A não compactação do ventrículo esquerdo (NCVE) é uma cardiomiopatia rara caracterizada anatomicamente por trabéculas ventriculares esquerdas proeminentes e recessos intratrabeculares profundos, causando disfunção sistólica e diastólica progressiva, anormalidades de condução e, ocasionalmente, eventos tromboembólicos.
Introdução
O que você precisa saber de cara
A não compactação do ventrículo esquerdo (NCVE) é uma cardiomiopatia rara caracterizada anatomicamente por trabéculas ventriculares esquerdas proeminentes e recessos intratrabeculares profundos, causando disfunção sistólica e diastólica progressiva, anormalidades de condução e, ocasionalmente, eventos tromboembólicos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
15 genes identificados com associação a esta condição.
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
Cytoplasm, cytoskeleton
Cardiomyopathy, dilated, 1R
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satel
CytoplasmCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satelliteCell membrane
Left ventricular non-compaction 7
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition.
Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart
Nucleus
Atrial septal defect 4
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.
E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors
CytoplasmEndosome
Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:2188730, PubMed:22431096, PubMed:2344612, PubMed:23666920, PubMed:24741066, PubMed:31434876, PubMed:
Nucleus laminaNucleus envelopeNucleus, nucleoplasmNucleus matrixNucleus speckle
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments
Cytoplasm, cytoskeleton
Cardiomyopathy, familial hypertrophic, 3
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Involved in muscle contraction
Membrane
Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle
Cytoplasm, myofibrilCytoplasm, myofibril, sarcomere
Cardiomyopathy, familial hypertrophic, 1
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
Cardiomyopathy, familial hypertrophic, 2
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors
CytoplasmSynapseCell membrane
Left ventricular non-compaction 1
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition.
Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microtubule plus ends. Binding to ARL8B provides a link from lysosomal membranes to plus-end-directed motility (PubMed:22172677, PubMed:24088571, PubMed:25898167, PubMed:28325809). Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarizati
CytoplasmLysosome membrane
May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton
Cytoplasm, perinuclear regionCell projection, pseudopodiumCytoplasm, cytoskeletonCytoplasm, myofibril, sarcomere, Z line
Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.
A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins (PubMed:23884246). Required to maintain gingival epithelial barrier function (PubMed:34368962). Important component of the desmosome that is also required for localization of desmosome component pro
NucleusCell junction, desmosomeCell junctionCytoplasm
Arrhythmogenic right ventricular dysplasia, familial, 9
A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role
Cardiomyopathy, familial hypertrophic, 4
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context (PubMed:12816872). In the cytoplasm, acts as a histone methyltransferase, which catalyzes monomethylation of 'Lys-9' of free histone H3 (H3K9me1) during translation (By similarity). Monomethylated histone H3 is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases (SUV39H1 and SUV39H2) use it as a substrate to catalyze histone H3 'Lys-9'
NucleusChromosomeCytoplasm
Left ventricular non-compaction 8
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition.
Variantes genéticas (ClinVar)
443 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,454 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
29 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Não-compactação ventricular esquerda
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Familial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant.
Left ventricular noncompaction cardiomyopathy (LVNC) is a distinct form of cardiomyopathy that may present as either an inherited or a sporadic condition. This report describes the first documented case of familial LVNC associated with the MYH7 p.Asp461Asn variant. Phenotypic variability among affected individuals within the family was assessed to identify potential contributors to the observed clinical heterogeneity in LVNC. The reported family included 10 individuals across three generations. Two members were diagnosed with LVNC, and 1 was classified as having suspected LVNC. Identical twins (Ⅱ-1 and Ⅱ-3) were both found to harbor the heterozygous missense variant c.1381G > A (p.Asp461Asn) in the MYH7 gene. Subsequent pedigree analysis confirmed the presence of this variant in individuals Ⅲ-1, Ⅲ-2, and Ⅲ-4. Clinical observations from this familial case highlight the importance of early identification and intervention in patients with LVNC to mitigate the risks of heart failure, sudden cardiac death, and thromboembolic events. The MYH7 variant plays a significant role in the pathogenesis of LVNC and may represent a promising target for future gene-based therapies aimed at improving patient outcomes.
Digenic sarcomeric variants in paediatric dilated cardiomyopathy and maternal peripartum cardiomyopathy: a familial case report.
Left ventricular non-compaction (LVNC) can be observed as a phenotypic trait in patients with dilated cardiomyopathy. Familial cases have been increasingly recognized, with sarcomeric gene mutations-particularly in MYH7 and MYBPC3-playing a significant role. Peripartum cardiomyopathy (PPCM) may also share overlapping genetic architecture with inherited cardiomyopathies. We report a 7-year-old girl with a clinical diagnosis of dilated cardiomyopathy with LVNC since infancy. Genetic analysis revealed two heterozygous missense variants in sarcomeric genes associated with inherited cardiomyopathies: MYH7: c.4186C>T (p.Arg1396Trp) and MYBPC3: c.2672G>A (p.Arg891Gln), both classified as variants of uncertain significance. Segregation analysis showed that the MYH7 variant was maternally inherited and the MYBPC3 variant paternally inherited. Notably, the mother developed PPCM 4 months postpartum, with an ejection fraction (EF) of 35%-40%, and was found to carry the same MYH7 variant. The father remained asymptomatic. This case highlights a potential familial cardiomyopathy syndrome with phenotypic variability: the child presenting with an dilated cardiomyopathy with LVNC phenotype and the mother with PPCM. The presence of distinct cardiomyopathy phenotypes within the same family carrying shared and separate sarcomeric variants suggests a possible genotype-phenotype correlation, emphasizing the importance of comprehensive genetic screening and long-term familial surveillance in such cases. This report highlights the clinical relevance of identifying digenic sarcomeric variants in paediatric cardiomyopathy, particularly when associated with a positive maternal history of PPCM. Familial evaluation and recognition of genotypic overlap may aid in risk stratification and management.
FHOD3 deficiency disrupts sarcomere organization and activates caMKII signaling in human stem cell-derived cardiomyocytes.
Inherited cardiomyopathy (ICM) is a genetic disorder characterized by abnormal myocardial structure and function, often progressing to heart failure. FHOD3, a member of the Formin gene family, plays a crucial role in cardiomyocyte cytoskeletal organization. Mutations in FHOD3 have been associated with various cardiomyopathies, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular noncompaction (LVNC). However, the molecular mechanisms underlying FHOD3 deficiency-induced cardiomyopathy remain elusive. A FHOD3 knockout (FHOD3-/-) human embryonic stem cell (hESC) line was generated using the CRISPR/Cas9 system and subsequently differentiated into cardiomyocytes (hESC-CMs). Sarcomere structure, calcium handling, mitochondrial function, and contractility were evaluated via immunofluorescence, electron microscopy, Seahorse metabolic analysis, and high-definition video analysis, respectively. Transcriptomic sequencing was performed to identify differentially expressed genes and enriched pathways. FHOD3-deficient hESC-CMs exhibited marked sarcomere disorganization and degradation, impaired calcium handling and compromised mitochondrial function, ultimately leading to reduced contractility. Transcriptomic analysis revealed significant downregulation of sarcomere-related genes and calcium-handling genes, with enrichment in pathways associated with cardiomyopathy and calcium signaling. Furthermore, FHOD3 deficiency triggered the phosphorylation of CaMKII (Thr286), a key regulator of cardiac hypertrophy and remodeling, contributing to the progression of heart failure. Treatment with the myosin activator Omecamtiv mecarbil (OM) partially restored contractility without affecting calcium handling, highlighting its potential as a therapeutic strategy. Our study establishes a valuable human-derived model for investigating the molecular mechanisms of FHOD3 deficiency-induced cardiomyopathy. This model allows for extensive investigation into the phenotypes caused by FHOD3 deficiency and identifies CaMKII activation as a crucial factor contributing to the HF phenotype. Additionally, this model serves as an important tool for discovering novel therapeutic agents, and we demonstrate that OM can partially improve myocardial function in FHOD3 KO hESC-CMs. Barth syndrome is a multisystem disorder characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, and prepubertal growth delay; however, not all features may be present in an affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with bacterial infections and aphthous ulcers, pneumonia, and sepsis. Skeletal myopathy predominantly affects the proximal muscles, and results in delays in development of early motor skills. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies. The diagnosis of Barth syndrome is established in a male proband with suggestive findings and either an increased monolysocardiolipin-to-cardiolipin ratio (if available) or a hemizygous pathogenic variant in TAFAZZIN (formerly TAZ) identified by molecular genetic testing. The diagnosis of Barth syndrome is usually established in a female proband with suggestive clinical findings and a heterozygous TAFAZZIN pathogenic variant identified by molecular genetic testing. Targeted therapy: Elamipretide is indicated for the improvement of muscle strength in individuals with Barth syndrome. Treatment of manifestations: Standard treatment of cardiac issues include: (1) for cardiac arrhythmia, consideration of antiarrhythmic medications or implantable cardiac defibrillator (ICD); (2) for heart failure, careful fluid and volume management and avoidance of overdiuresis and dehydration, standard heart failure medications, and cardiac transplantation when heart failure is severe and intractable. Interventions for other findings include granulocyte colony-stimulating factor for neutropenia; physical therapy for skeletal muscle weakness; standard treatment for talipes equinovarus and/or scoliosis; feeding therapy and consideration of gastrostomy tube placement for persistent feeding issues; uncooked cornstarch prior to bedtime for hypoglycemia; standard management of developmental delay / intellectual disability. Prevention of secondary complications: Aspirin therapy to prevent clot formation in those with severe cardiac dysfunction and/or marked left ventricular noncompaction; antibiotic prophylaxis to prevent recurrent infections; limit fasting or provide intravenous glucose infusion prior to planned medical procedures; regularly monitor blood potassium concentrations during administration of IV fluids that contain potassium and during episodes of diarrhea; consult with nutritionist and/or gastroenterologist to determine optimal caloric delivery. Surveillance: Monitoring existing manifestations, the individual's response to supportive care, and the emergence of new manifestations requires at least annual electrocardiography with Holter monitor and echocardiography; as-needed electrophysiologic studies to assess for potentially serious cardiac arrhythmia; at least semiannual complete blood count with differential as well as with all febrile episodes; at each visit, measurement of height and weight, clinical assessment of strength, and clinical assessment for scoliosis; every three to five years during childhood, formal assessments of developmental progress and educational needs. Agents/circumstances to avoid: Prolonged fasting, use of rectal thermometers in those with neutropenia, and use of succinylcholine. Although growth hormone is typically not indicated as most affected males will attain normal stature by adulthood, recommendations about use of human growth hormone may vary based on endocrinology testing and recommendations. The muscular involvement in Barth syndrome may increase the risk for malignant hyperthermia compared to the general population. Evaluations of relatives at risk: Molecular genetic testing (if the TAFAZZIN pathogenic variant in the family is known) or monolysocardiolipin-to-cardiolipin ratio testing (if the TAFAZZIN pathogenic variant in the family is not known) of male sibs of a proband and male relatives in the maternal lineage is appropriate to identify as early as possible those who would benefit from initiation of treatment and preventive measures. Barth syndrome is inherited in an X-linked manner. If the mother of the proband has a TAFAZZIN pathogenic variant, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected. Females who inherit the pathogenic variant will be heterozygotes. Heterozygous females typically do not manifest the disease. Affected males transmit the TAFAZZIN pathogenic variant to all of their daughters and none of their sons. If the TAFAZZIN pathogenic variant has been identified in an affected family member, identification of female heterozygotes and prenatal/preimplantation genetic testing for Barth syndrome are possible.
Invasion of Epicardial-Derived Cells to the Trabeculae Mediated by NFPs-Fgf Signaling Regulates Ventricular Compaction.
Left ventricular noncompaction cardiomyopathy (LVNC; OMIM No. 604169) is anatomically characterized by excess trabeculation and deep intertrabecular recesses. It is the third most prevalent pediatric cardiomyopathy. Despite its clinical significance, the pathogenesis of LVNC remains uncertain. We examined Numb expression in epicardial cells (EpiCs) and epicardial-derived cells (EPDCs) using a mCherry::Numb knock-in mouse line; used Tbx18Cre/+ and inducible WT1CreERT2/+ to generate epicardium-specific Numb and Numblike double knockouts (epicardial Nb;Nl double knockout [EDKO]) and inducible EpiC-specific Nb;Nl knockout, respectively; monitored EpiCs/EPDCs invasion into the myocardium by lineage tracing; assessed LVNC defects via the ratio of noncompact to compact zone thickness/area; utilized single-nuclei mRNA sequencing and biochemical tools to determine the disrupted molecular mechanisms of EDKOs; and used pharmacological approaches to rescue defects in EDKOs. Cardiac structural and functional changes in adult stages were examined using echocardiography and histochemistry. Sample sizes ranged from 3 to 9 hearts across experiments. Numb is enriched in EpiCs and EPDCs. In EDKO hearts, EPDCs displayed abnormal differentiation, and their migration was arrested at the outer compact zone, resulting in the absence of EPDCs in the inner compact zone and trabeculae. The EDKO hearts displayed LVNC, and inducible EpiC-specific Nb;Nl knockouts (induced at embryonic day 10.5) recapitulated the defects. Single-nuclei mRNA sequencing revealed the upregulation of Fgfr1 (fibroblast growth factor receptor 1) in epicardium and the downregulation of Fgf (fibroblast growth factor) ligands in cardiomyocytes in EDKOs. Exogenous Fgf2 supplementation to pregnant females partially rescued epithelial-mesenchymal transition and compaction defects in EDKO hearts. Female EDKOs survived to adulthood and maintained LVNC. Ablation of NFPs (Numb family proteins) in EpiCs disrupted the invasion and differentiation of EPDCs and the communication between cardiomyocytes and other cells, and caused LVNC. The epithelial-mesenchymal transition and compaction defects can be partially rescued by exogenous Fgf2 supplementation. Our findings highlight an essential role for the epicardial NFPs-Fgf/Fgfr axis in regulating ventricular compaction.
Intermittent High-Grade Atrioventricular Block as a Presenting Sign of Left Ventricular Noncompaction.
Left ventricular noncompaction is characterized by excessive trabeculation and is variably associated with heart failure, arrhythmias, thromboembolism, and conduction disease. A 37-year-old man with palpitations and chest discomfort had intermittent high-grade (Mobitz II) atrioventricular block on event monitoring (3.7-second pause). Cardiac magnetic resonance revealed apicolateral hypertrabeculation with a diastolic noncompacted:compacted ratio of 3.5 without late gadolinium enhancement; transthoracic echocardiography showed preserved ejection fraction (60%). Electrophysiology recommended longitudinal rhythm surveillance with an implantable loop recorder; pacemaker was deferred. Genetic testing was advised but not authorized by insurance. Intermittent high-grade atrioventricular block can be an initial manifestation of left ventricular noncompaction with preserved systolic function. Recognition of this association supports advanced imaging in unexplained conduction disease in young adults and favors loop-recorder-guided surveillance with multidisciplinary follow-up, including genetics. Unexplained high-grade atrioventricular block in a young adult should prompt advanced structural evaluation-including cardiac magnetic resonance-to exclude left ventricular noncompaction and other cardiomyopathies. Preserved ejection fraction and absent late gadolinium enhancement can coexist with clinically relevant conduction disease in left ventricular noncompaction. Implantable loop recorder-guided surveillance enables individualized timing of device therapy and complements genetic evaluation and cascade family screening.
Publicações recentes
A Rare Presentation of Left Ventricular Noncompaction Cardiomyopathy Revealed by Acute Decompensated Heart Failure.
Hypercortisolism with coronary nonobstructive myocardial infarction and left ventricular noncompaction: a case report.
Intermittent High-Grade Atrioventricular Block as a Presenting Sign of Left Ventricular Noncompaction.
Familial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant.
LMNA-p.Arg78Trp and MYH6-p.Val893Met Mutations Associated with Left Ventricular Noncompaction.
📚 EuropePMC728 artigos no totalmostrando 198
Intermittent High-Grade Atrioventricular Block as a Presenting Sign of Left Ventricular Noncompaction.
JACC. Case reportsFamilial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant.
Open life sciencesLMNA-p.Arg78Trp and MYH6-p.Val893Met Mutations Associated with Left Ventricular Noncompaction.
Combinatorial chemistry & high throughput screeningLeft Ventricular Non-Compaction Cardiomyopathy: The Tragedies & Trabeculations of the Architectural Cardiac Sponge.
Journal of clinical medicineDiagnostic utility of cardiac magnetic resonance-derived myocardial strain and fractal analysis in differentiating left ventricular noncompaction from dilated cardiomyopathy.
BMC medical imagingDiagnostic Dilemma in Left Ventricular Noncompaction Cardiomyopathy: Thrombus or Tumor?
CureusAn infant case of double-chambered left ventricle with extensive non-compaction revealed by intraoperative endoscopy.
Journal of cardiology casesThe spongy heart paradox: balancing bleeding and clotting risk in left ventricular noncompaction cardiomyopathy.
Heart failure reviewsDigenic sarcomeric variants in paediatric dilated cardiomyopathy and maternal peripartum cardiomyopathy: a familial case report.
European heart journal. Case reportsNONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.
Prenatal diagnosisLeft Ventricular Noncompaction Syndrome.
Cardiology in reviewClinical phenotypes across age groups and the predictive value of NT-proBNP for ventricular arrhythmias in left ventricular non-compaction: a multicenter cohort study.
Journal of translational medicineDe Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non-Compaction and Metabolic Disturbances: A Rare Case Report.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncFHOD3 deficiency disrupts sarcomere organization and activates caMKII signaling in human stem cell-derived cardiomyocytes.
Stem cell research & therapyPredictors of life-threatening events in adult patients with left ventricular noncompaction.
World journal of cardiologyInvasion of Epicardial-Derived Cells to the Trabeculae Mediated by NFPs-Fgf Signaling Regulates Ventricular Compaction.
Circulation. Heart failureCommon Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.
GenesA Rare Case of Left Ventricular Noncompaction Discovered During Severe Rhythm Disorder: About a Case Report.
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Frontiers in cardiovascular medicineOptimizing the Diagnostic Assessment of Left Ventricular Noncompaction Cardiomyopathy: The Clinical Value of Cardiac Magnetic Resonance Imaging.
Current medical imagingMetabolic remodeling and cardiac dysfunction in left ventricular noncompaction: Insights from the MYH7 Q315R model.
PloS oneAre NONO variants linked to congenital heart disease? Patient reports and review.
European journal of medical geneticsA ryanodine receptor 2 gene variant associated with left ventricular non-compaction, cardiac conduction disease, ventricular arrhythmias, and sudden cardiac death.
Cardiology in the youngLeft Ventricular Non-Compaction Cardiomyopathy: A Review of the Pathophysiology, Epidemiology, Diagnosis, Genetics, and Clinical Management.
Journal of personalized medicineDual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.
Internal medicine (Tokyo, Japan)Multimodality CMR diagnosis of double-chambered left ventricle in a child: A case report.
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JACC. Case reportsCardiac CT fractal analysis of LV noncompaction and common cardiomyopathies.
Journal of cardiovascular computed tomographyCritical predictors of heart transplant necessity in children with advanced DCM.
Italian journal of pediatricsImmuhistochemically-confirmed mitochondrial cardiomyopathy presenting as a conduction system hamartoma: A case report.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyDouble-Chambered Left Ventricle: How Cardiac Magnetic Resonance Overturned the Diagnosis.
JACC. Case reportsLeft Ventricular Noncompaction Cardiomyopathy in an Elderly Patient: A Case Report.
CureusDeletion of Ptpmt1 by αMHC-Cre in Mice Results in Left Ventricular Non-Compaction.
Journal of developmental biologySaw-tooth cardiomyopathy from foetal to neonatal period: a case report and literature review.
European heart journal. Case reportsRole of Col1a2 and Postn in left ventricular noncompaction cardiomyopathy.
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Channels (Austin, Tex.)Dysfunction of PDE4DIP contributes to LVNC development by regulating cell polarity, skeleton, and energy metabolism via Rho-ROCK pathway.
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Journal of imagingIsolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy.
The Indian journal of radiology & imagingA ViTUNeT-based model using YOLOv8 for efficient LVNC diagnosis and automatic cleaning of dataset.
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GenesPrognostic Value of Compact Myocardial Thinning in Patients With Left Ventricular Noncompaction.
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CureusAbnormal P wave terminal force in lead V1 is correlated with adverse cardiac remodeling in patients with left ventricular noncompaction: A useful noninvasive indicator of disease severity.
Journal of electrocardiologyBeyond convention: non-compacted myocardium, ventricular tachycardia, and systolic dysfunction in dextrocardia patients: a case series.
Annals of medicine and surgery (2012)Lack of Bridge to Recovery in Pediatric Dilated Cardiomyopathy With Left Ventricular Noncompaction.
Annals of thoracic surgery short reportsPulmonary artery banding for dilated and depressed left ventricle: dilated cardiomyopathy versus left ventricular non-compaction cardiomyopathy.
Cardiology in the youngThe Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy-A Case Report.
GenesThrowing thrombi: noncompaction cardiomyopathy causing renal infarct and catastrophic stroke - a case report.
BMC cardiovascular disordersHow to Approach Left Ventricular Hypertrabeculation: A Practical Guide and Literature Review.
Journal of clinical medicineA rare genetic variant in PRDM16 is associated with Wolff-Parkinson-White syndrome with complex accessory pathway characteristics and left ventricular non-compaction cardiomyopathy.
Cardiology in the youngCardiac resynchronization therapy via left bundle branch pacing in heart failure with complete left bundle branch block: is the defibrillator needed?
Frontiers in cardiovascular medicineLeft Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete.
Journal of clinical medicine researchIncidence and Impact of Myocarditis in Genetic Cardiomyopathies: Inflammation as a Potential Therapeutic Target.
GenesSuccessful heart transplantation after 4 years of bridging with HeartWare HVAD for left ventricular noncompaction in an 11-year-old boy with prohibitively high pulmonary vascular resistance.
Annals of pediatric cardiologySemi-Automatic Refinement of Myocardial Segmentations for Better LVNC Detection.
Journal of clinical medicineNONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.
European journal of medical geneticsFetal bradycardia associated with left ventricle noncompaction diagnosed as HCN4 mutations.
Annals of pediatric cardiologyBAG-3 Mutation Dilated Cardiomyopathy With Left Ventricular Noncompaction in Young Healthy Adult.
JACC. Case reportsNovel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
International journal of molecular sciencesThe Role of Echocardiography in the Diagnosis of Left Ventricular Noncompaction: Usefulness in a Resource-Constrained Setting.
Clinical case reportsClinical observation of 4 cases of cerebral infarction caused by left ventricular noncompaction.
The American journal of emergency medicineA tri-leaflet mitral valve with left ventricular non-compaction cardiomyopathy.
European heart journal. Imaging methods and practiceDilated Cardiomyopathy: A Genetic Journey from Past to Future.
International journal of molecular sciencesDetermination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Journal of the American Heart AssociationMorphological, electrophysiological, and molecular alterations in foetal noncompacted cardiomyopathy induced by disruption of ROCK signalling.
Frontiers in cell and developmental biologySearching for genetic determinants for left ventricular non-compaction.
Quantitative imaging in medicine and surgeryPrevalence, Clinical Manifestations, and Adverse Outcomes of Left Ventricular Noncompaction in Adults: A Systematic Review and Meta-Analysis.
Cardiology researchLeft Ventricular Non-Compaction: Evolving Concepts.
Journal of clinical medicineCardiomyopathy-Associated Chronic Heart Failure in Infants Aged <1 Year: A Prospective Observational Cohort Over 5 Years in Northern China.
Journal of the American Heart AssociationGenophenotypic correlates and long-term outcome prognosticators of left ventricular non-compaction in children.
Journal of the Formosan Medical Association = Taiwan yi zhiCongenital Left Ventricular Aneurysm.
JACC. Case reportsThe effect of excessive trabeculation on cardiac rotation-A multimodal imaging study.
PloS oneLeft Ventricular Non-compaction Cardiomyopathy: A Report of a Rare Case From Saudi Arabia.
CureusWhat happened to the left ventricular non-compaction cardiomyopathy? to be or not to be: This is the question.
Current problems in cardiologyTitin Cardiomyopathy Associated With Refractory Ventricular Tachycardia: A Case Report.
CureusPathophysiological and Pedigree Analysis of Left Ventricular Noncompaction in Japanese Macaques (Macaca fuscata).
Comparative medicineA Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
International journal of molecular sciencesHypereosinophilia and Left Ventricular Thrombus: A Case Report and Literature Review.
CureusIsolated left ventricular non-compaction: Clinical characterisation of a teenage male.
JPMA. The Journal of the Pakistan Medical AssociationWatchful Waiting: Echocardiographic Surveillance of Childhood Left Ventricular Noncompaction.
JACC. AdvancesLeft Ventricular Noncompaction in Childhood: Echocardiographic Follow-Up and Prevalence in First-Degree Relatives.
JACC. AdvancesExploring the Unknown: Appreciating the Challenges of Non-compaction Cardiomyopathy.
CureusA neonate with a spongy failing heart - What could it be?
Annals of pediatric cardiologyMolecular Pathways and Animal Models of Ebstein's Anomaly.
Advances in experimental medicine and biologyCardiac Transcription Factors and Regulatory Networks.
Advances in experimental medicine and biologyLeft Ventricle Noncompaction Phenotype: Cause or Consequence?
Journal of cardiovascular echographySevere Regurgitant Bicuspid Aortic Valve in a Patient with Overlapping Left Ventricular Noncompaction and Asymmetrical Septal Hypertrophy.
Journal of cardiovascular echographyLeft Ventricular Non-compaction and Associated Cardiomyopathy Presenting With Cardiac Failure: A Case Report.
CureusMyosin Heavy Chain 7 (MYH7) Variant Associated Cardiovascular Disease: An Unusual Case of Heart Failure in a Young Male.
CureusBilateral Renal Infarct in a Young Adult: Unveiling an Autoimmune Enigma.
CureusCase Report: Challenges in the etiology of left ventricular aneurysm.
F1000ResearchElectrophysiological phenotyping of left ventricular noncompaction cardiomyopathy in pediatric populations: A systematic review.
Physiological reportsA review regarding the article 'Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults.'.
Current problems in cardiologyAdvances and challenges in the diagnosis and management of left ventricular noncompaction in adults: A literature review.
Current problems in cardiologyLeft ventricular function assessment including or excluding trabeculations in left ventricular non-compaction, a preliminary case-control cardiac magnetic resonance study.
Quantitative imaging in medicine and surgeryNovel MYH7 Variant in the Neonate of a Mother with Gestational Diabetes Mellitus Showing Left Ventricular Hypertrophy and Noncompaction.
GenesTranscription Factors Leave Their Mark on the Heart.
Circulation. Genomic and precision medicineSudden unexpected intrapartum death and left ventricular noncompaction involving the right ventricle.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyA rare case of mitral valve dysplasia and left ventricular noncompaction: surgical management and genetic investigation.
Quantitative imaging in medicine and surgeryImpact of Cardiac Magnetic Resonance on the Diagnosis of Left Ventricular Noncompaction-A 15-Year Experience.
Journal of clinical medicineGenetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction.
Frontiers in cardiovascular medicinePregnancy and cardiac maternal outcomes in women with inherited cardiomyopathy: interest of the CARPREG II risk score.
ESC heart failureLong-term prognostic value of thyroid hormones in left ventricular noncompaction.
Journal of endocrinological investigationRole of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Circulation. Genomic and precision medicineCellular-level analyses of SCN5A mutations in left ventricular noncompaction cardiomyopathy suggest electrophysiological mechanisms for ventricular tachycardia.
Biochemistry and biophysics reportsEbstein's Anomaly of the Tricuspid Valve, Mitral Valve Prolapse and Left Ventricular Non-Compaction: A Triple Trouble.
Heart, lung & circulationTitin: The Missing Link in Cardiac Physiology.
Cardiology in reviewLEFT VENTRICULAR NONCOMPACTION CARDIOMYOPATHY: A SCOPING REVIEW.
Annals of Ibadan postgraduate medicineMyocardial Mechanics and Associated Valvular and Vascular Abnormalities in Left Ventricular Noncompaction Cardiomyopathy.
Journal of clinical medicineRETRACTED: Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria.
Diagnostics (Basel, Switzerland)Left Ventricular Noncompaction Cardiomyopathy Diagnosis in a Patient Presenting with Epileptic Seizure: A "Double-edged Sword".
Innovations in clinical neuroscienceCatheter Ablation of Left Ventricular Summit Ectopies in Left Ventricular Noncompaction.
Journal of medical casesThe clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.
European journal of pediatricsNovel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in-depth exploration.
Prenatal diagnosisImpella 5.5 in left ventricular noncompaction syndrome as bridge to heart transplant.
JHLT openImproving a Deep Learning Model to Accurately Diagnose LVNC.
Journal of clinical medicineNonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
Circulation. Heart failureA novel NONO nonsense variant in a fetus with renal abnormalities.
Prenatal diagnosisMultidisciplinary approach in cardiomyopathies: From genetics to advanced imaging.
Heart failure reviewsHighlights of right ventricular characteristics of left ventricular noncompaction using 3D echocardiography.
International journal of cardiology. Heart & vasculatureClinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.
Cardiology in the young[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].
Zhonghua xin xue guan bing za zhiEarly Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report.
CureusLeft Ventricular Noncompaction Cardiomyopathy and Myocardial Bridging Association: A Coincidence Or a Usual Association?
Journal of the Saudi Heart AssociationUnmasking the uncommon: bidirectional ventricular tachycardia in two rare paediatric cardiomyopathies.
Cardiology in the youngA Rare Case of an Infant With 1p36 Deletion Syndrome Presenting With Systolic Heart Failure Secondary to Severe Dilated Cardiomyopathy.
CureusLeft ventricular entropy: A promising predictor of cardiovascular events in patients with left ventricular noncompaction.
International journal of cardiologyPronounced QT Prolongation During General Anesthesia in a Child with Left Ventricular Noncompaction Cardiomyopathy: A Case Report.
Anesthesia progressLeft Ventricular Noncompaction in Concomitance With Heroin Use Disorder.
CureusPregnancy Outcomes in Left Ventricular Noncompaction.
The American journal of cardiologyCase report: A rare case of left ventricular noncompaction in two Chinese siblings with becker muscular dystrophy caused by deletion of exons 10 to 12 in the DMD gene.
Frontiers in cardiovascular medicineLong-Term Prognosis of Different Subtypes of Left Ventricular Noncompaction Cardiomyopathy Patients: A Retrospective Study in China.
Journal of cardiovascular development and diseaseMarfan Syndrome, Giant Ascending Aortic Aneurysm, and Left Ventricular Noncompaction: The Heart in Jeopardy!
CureusCharacteristics of the right ventricle in left ventricular noncompaction with reduced ejection fraction in the light of dilated cardiomyopathy.
PloS oneAccurate Classification of Non-ischemic Cardiomyopathy.
Current cardiology reportsLeft ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncEntropy as a novel predictor of cardiovascular events in patients with left ventricular noncompaction.
International journal of cardiologyEstablishment and identification of cardiomyocyte arhGEF18 gene conditional knockout mice.
Pediatric discoveryMouse Models of Cardiomyopathies Caused by Mutations in Troponin C.
International journal of molecular sciencesLeft ventricular noncompaction in Ibadan, Nigeria.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyCase Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.
Frontiers in geneticsNew Scenarios in Heart Transplantation and Persistency of SARS-CoV-2 (Case Report).
Life (Basel, Switzerland)Prinzmetal angina in a child with actin gene ACTC1 mutation.
Cardiology in the youngA novel mutation in the TTN gene resulted in left ventricular noncompaction: a case report and literature review.
BMC cardiovascular disordersVariants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
HGG advancesThe impact of fragmented QRS on clinical findings and outcomes in children with dilated cardiomyopathy with or without left ventricular non-compaction.
Cardiology in the youngThe Rare Condition of Left Ventricular Non-Compaction and Reverse Remodeling.
Life (Basel, Switzerland)Non-Compaction Ventricle and Associated Cardiovascular and Non-Cardiovascular Diseases; More Attention Is Needed!
Life (Basel, Switzerland)Low-frequency maternal novel MYH7 mosaicism mutation in recurrent fetal-onset severe left ventricular noncompaction: a case report.
Frontiers in pediatricsGenetic landscape in Russian patients with familial left ventricular noncompaction.
Frontiers in cardiovascular medicineIncreased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.
Circulation researchAnomalous origin of the left circumflex artery from the pulmonary artery associated with non-compaction of the left ventricle: usefulness of multimodality imaging-a case report.
European heart journal. Case reportsMultimodality Imaging and Biomarker Approach to Characterize the Pathophysiology of Heart Failure in Left Ventricular Non-Compaction with Preserved Ejection Fraction.
Journal of clinical medicineTreatment Strategies for Cardiomyopathy in Children: A Scientific Statement From the American Heart Association.
CirculationLeft Ventricular Noncompaction Cardiomyopathy in an Elderly Patient: A Case Report and Literature Review.
CureusMissense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.
Circulation researchThe Value of Multimodal Imaging in Early Phenotyping of Cardiomyopathies: A Family Case Report.
Journal of personalized medicineAdvances in symptomatic therapy for left ventricular non-compaction in children.
Frontiers in pediatricsAltered contractility, Ca2+ transients, and cell morphology seen in a patient-specific iPSC-CM model of Ebstein's anomaly with left ventricular noncompaction.
American journal of physiology. Heart and circulatory physiologyA case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
Molecular genetics & genomic medicineImpact of left ventricular noncompaction on brain.
Neurologia i neurochirurgia polskaA rare case of uni-leaflet mitral valve accompanied with left ventricular noncompaction and patent ductus arteriosus.
Echocardiography (Mount Kisco, N.Y.)Clinical characteristics and management of coexistent cardiomyopathy in patients with bicuspid aortic valve.
Journal of geriatric cardiology : JGCWhole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy.
QJM : monthly journal of the Association of PhysiciansEndothelial deletion of PTBP1 disrupts ventricular chamber development.
Nature communicationsCan left ventricular entropy by cardiac magnetic resonance late gadolinium enhancement be a prognostic predictor in patients with left ventricular non-compaction?
Diagnostic and interventional radiology (Ankara, Turkey)New-Onset Heart Failure and Ischemic Stroke in Non-compaction Cardiomyopathy: A Case Report.
CureusEvolution in the management of aorta to left ventricular tunnel in a national congenital cardiology centre.
Cardiology in the youngDifferent methods, different results? Threshold-based versus conventional contouring techniques in clinical practice.
International journal of cardiologyValue of cardiac magnetic resonance feature tracking technology in the differential diagnosis of isolated left ventricular noncompaction and dilated cardiomyopathy.
Quantitative imaging in medicine and surgeryCardiomyopathies in children: An overview.
Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheoreseA Novel Case of Acquired Isolated Left Ventricular Non-compaction in a Primigravida: Revisiting the Diagnostic Criteria of Left Ventricular Non-compaction.
CureusA novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.
Frontiers in cardiovascular medicinePrognosis and subtype analysis of left ventricular noncompaction in adults: A retrospective multicenter study.
Clinical cardiologyExcessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.
JACC. Cardiovascular imagingLeft Ventricular Noncompaction and Coronary Artery Disease: An Unexpected Combination.
Texas Heart Institute journalChronic left ventricular apical thrombosis complicating isolated left ventricular noncompaction in a patient with human immunodeficiency virus infection.
Journal of medical ultrasonics (2001)A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans.
International journal of molecular sciencesCardiac resynchronization therapy in a patient with Ebstein's anomaly and left ventricular noncompaction: Rethink the resync?
HeartRhythm case reportsThree-dimensional Whole-Heart Cardiac MRI Sequence for Measuring Trabeculation in Left Ventricular Noncompaction.
Radiology. Cardiothoracic imagingLeft Atrial Diameter and the Risk of Thromboembolism in Patients with Left Ventricular Noncompaction.
Journal of cardiovascular development and diseaseLeft ventricular non-compaction cardiomyopathy and ischaemic stroke.
Neurologia i neurochirurgia polskaElectrocardiographic Parameters Associated with Adverse Outcomes in Children with Cardiomyopathies.
Journal of clinical medicinePrognostic value of cardiac magnetic resonance imaging parameters in left ventricular noncompaction with left ventricular dysfunction.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Familial left ventricular noncompaction cardiomyopathy associated with the p.Asp461Asn MYH7 variant.
- Digenic sarcomeric variants in paediatric dilated cardiomyopathy and maternal peripartum cardiomyopathy: a familial case report.
- FHOD3 deficiency disrupts sarcomere organization and activates caMKII signaling in human stem cell-derived cardiomyocytes.
- Invasion of Epicardial-Derived Cells to the Trabeculae Mediated by NFPs-Fgf Signaling Regulates Ventricular Compaction.
- Intermittent High-Grade Atrioventricular Block as a Presenting Sign of Left Ventricular Noncompaction.
- A Rare Presentation of Left Ventricular Noncompaction Cardiomyopathy Revealed by Acute Decompensated Heart Failure.
- Hypercortisolism with coronary nonobstructive myocardial infarction and left ventricular noncompaction: a case report.
- LMNA-p.Arg78Trp and MYH6-p.Val893Met Mutations Associated with Left Ventricular Noncompaction.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:54260(Orphanet)
- MONDO:0018901(MONDO)
- GARD:10985(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1725245(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
