É uma doença rara do músculo do coração, que é de família, caracterizada pela dilatação do ventrículo esquerdo (a câmara principal do lado esquerdo do coração) e pelo enfraquecimento progressivo da sua capacidade de bombear o sangue. Isso acontece sem que existam outras condições que sobrecarreguem o coração, ou problemas nas artérias coronárias (as artérias que nutrem o coração) que por si só justificariam essa fraqueza geral no bombeamento. A doença pode causar insuficiência cardíaca (quando o coração fica fraco) ou arritmia (quando o coração bate fora do ritmo). É considerada isolada quando não há outros sinais ou problemas incomuns no coração ou em outras partes do corpo.
Introdução
O que você precisa saber de cara
A miocardiopatia dilatada isolada familiar é uma condição genética rara em que o coração sofre dilatação e enfraquece de forma progressiva. Ela costuma provocar cansaço, insuficiência cardíaca congestiva e batimentos irregulares no ritmo do coração. A doença pode se manifestar em qualquer fase da vida e ser transmitida aos descendentes por diferentes padrões de herança. No Brasil, ela não possui um protocolo clínico específico de doença rara no Ministério da Saúde, devendo o paciente buscar apoio e acompanhamento cardiológico regular na rede pública.
É uma doença rara do músculo do coração, que é de família, caracterizada pela dilatação do ventrículo esquerdo (a câmara principal do lado esquerdo do coração) e pelo enfraquecimento progressivo da sua capacidade de bombear o sangue. Isso acontece sem que existam outras condições que sobrecarreguem o coração, ou problemas nas artérias coronárias (as artérias que nutrem o coração) que por si só justificariam essa fraqueza geral no bombeamento. A doença pode causar insuficiência cardíaca (quando o coração fica fraco) ou arritmia (quando o coração bate fora do ritmo). É considerada isolada quando não há outros sinais ou problemas incomuns no coração ou em outras partes do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 109 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
53 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive.
Progressive familial heart block 1A
A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
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.
Cardiomyopathy, dilated, 1M
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, familial hypertrophic, 7
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.
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.
Mitochondrial complex II deficiency, nuclear type 1
A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive.
Cardiomyopathy, dilated, 1DD
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, familial hypertrophic, 23, with or without left ventricular non-compaction
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.
Noonan syndrome 5
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.
Cardiomyopathy, dilated, 1QQ
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1QQ is an autosomal dominant form.
Cardiomyopathy, dilated, 2I
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2I is an autosomal recessive, severe form characterized by onset in infancy or childhood.
Cardiomyopathy, dilated, 2G
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy.
Arrhythmogenic right ventricular dysplasia, familial, 10
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.
Cardiomyopathy, dilated, 2H
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy.
Muscular dystrophy, limb-girdle, autosomal recessive 6
An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.
Cardiomyopathy, dilated, 1OO
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant.
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Cardiomyopathy, dilated, 2C
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children.
Keratoderma, palmoplantar, striate 2
A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.
Alzheimer disease 3
A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Cardiomyopathy, familial hypertrophic, 17
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.
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.
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.
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.
Cardiomyopathy, familial hypertrophic, 7
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.
Congenital myopathy 24
An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies.
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.
Myopathy, myofibrillar, 2A, adult-onset
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2A is an autosomal dominant form characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, respiratory insufficiency, hypertrophic cardiomyopathy, and cataract.
Cardiomyopathy, dilated, 2D
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset.
Cardiomyopathy, dilated, 2F
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2F is an autosomal recessive, early-onset form.
Cardiomyopathy, dilated, 1P
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, familial hypertrophic, 25
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.
Cardiomyopathy, dilated, 2B
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Congenital disorder of glycosylation 1M
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life.
Myopathy, myofibrillar, 9, with early respiratory failure
An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support.
Cardiomyopathy, dilated, 1W
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, 1CC
An autosomal dominant form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Duchenne muscular dystrophy
Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
Cardiomyopathy, dilated, 1JJ
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Myopathy, myofibrillar, 1
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells.
Alzheimer disease 4
A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Cardiomyopathy, dilated, 1O
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Myopathy, myofibrillar, 6
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients.
Glucocorticoid deficiency 5
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
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.
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.
Barth syndrome
An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.
Atrial septal defect 3
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.
Variantes genéticas (ClinVar)
1.955 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
117 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 — Miocardiopatia dilatada isolada familiar
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Familial glucocorticoid deficiency type 4 (GCCD4), caused by nicotinamide nucleotide transhydrogenase (NNT) gene mutations, represents a rare multisystem disorder with poorly characterized cardiac manifestations. A 12-year-old female presented with recurrent fatigue, syncope, and severe arrhythmias. After multiple misdiagnoses [including dilated cardiomyopathy, fulminant myocarditis, and long QT syndrome (LQTS)], comprehensive evaluation revealed hypocortisolism (<1.0 µg/dL), markedly elevated adrenocorticotropic hormone (ACTH) (>1,250 pg/mL), and hypothyroidism. Genetic testing identified compound heterozygous NNT mutations (c.639_640insC/p.Val214Argfs*32 and c.2764C>T/p.Arg922*). Comprehensive whole-exome sequencing (WES) ruled out pathogenic variants in genes associated with isolated cardiomyopathy or congenital hypothyroidism. Cardiac assessment showed left ventricular dilation [left ventricular end-diastolic diameter (LVEDD) 5.14 cm], reduced left ventricular ejection fraction (LVEF) 53%, and corrected QT interval (QTc) prolongation (559 ms) with torsades de pointes. The patient was managed with hormone replacement (hydrocortisone 8.8→16.1 mg/m2/day; levothyroxine 16.7 µg/day) and cardioprotective therapy (propranolol, captopril, coenzyme Q10), resulting in significant improvement at 3-year follow-up: ejection fraction (EF) normalized to 68%, thyroid function recovered permitting levothyroxine discontinuation, hyperpigmentation resolved completely, and no arrhythmias recurred. This case underscores GCCD4 as a differential diagnosis in pediatric cardiomyopathy with arrhythmias. Multidisciplinary collaboration and early genetic testing are critical for diagnosis. Individualized glucocorticoid dosing combined with cardiac support enables favorable outcomes.
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Deleterious variants in SCN5A lead to a wide clinical spectrum that includes pathologies characterized by life-threatening cardiac events (CEs). In the pediatric population, early identification, management, and risk stratification of these pathologies are the main current challenges. This study analyzed a Spanish pediatric cohort (≤18 years) carrying rare SCN5A variants to explore genotype-phenotype correlations. A retrospective descriptive cohort study, including clinical, demographic, and genetic data of probands and their relatives, was conducted. Out of 100 children studied, 69 had definitively deleterious SCN5A variants (26 females, 38%; median age: 3 years, IQR 1-12). The main diagnoses were isolated Brugada syndrome (BrS) (31; 45%); isolated long QT syndrome type 3 (LQT3) (5; 7%); isolated progressive cardiac conduction disease (PCCD) (1; 2%); isolated familial atrial fibrillation (1; 2%); overlapping phenotypes (7; 10%) including: BrS-PCCD (2; 2.8%); BrS-LQT3 (1; 1.4%); premature ventricular contraction-dilated cardiomyopathy (1; 1.4%); BrS-LQT3-PCCD (1; 1.4%); BrS-PCCD-sick sinus syndrome (SSS) (1; 1.4%) and BrS-PCCD-SSS-familial atrial fibrillation (1; 1.4%). Of them, 13 (19%) patients presented with CEs (cardiogenic syncope, ventricular tachycardia/fibrillation, sudden cardiac arrest/death, and appropriate implantable cardio defibrillator shock). These findings underscore the utility of genetic testing for early diagnosis, risk stratification, and personalized management, enhancing preventive strategies for CE prevention in pediatrics.
Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.
Variants of dystrophin can lead to diverse phenotypes, ranging from isolated cardiomyopathy to aggressive Duchenne muscular dystrophy with progressive skeletal muscle weakness. We present a case of dystrophin-deficient cardiomyopathy in a 36-year-old man who presented in cardiogenic shock due to severe dilated cardiomyopathy requiring a bridge-to-transplant left ventricular assist device Genetic testing identified a DMD c.4857_4859del variant of uncertain significance. After heart transplantation, immunohistochemistry of the explanted heart revealed markedly reduced dystrophin staining, suggesting that the variant is disease-causing. Cascade testing identified multiple family members who were affected. This case report underscores the importance of synthesizing the clinical phenotype with functional testing to classify cardiomyopathy gene variants accurately. Periodic review of variants of uncertain significance is critical to enable early diagnosis, treatment, and family screening.
Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations.
Nonischemic dilated cardiomyopathy (DCM) can result from pathogenic variants in genes affecting myocardial structure and function. FKTN and LMNA mutations may involve both cardiac and skeletal muscle, consistent with limb-girdle muscular dystrophy (LGMD), with cardiac disease sometimes preceding neuromuscular symptoms. We report on 2 adults presenting with advanced DCM requiring heart transplantation, who were later diagnosed with LGMD. A 22-year-old woman had biallelic FKTN variants, and a 37-year-old man carried a heterozygous LMNA pathogenic variant. Both had elevated creatine kinase prior to proximal muscle weakness. Muscle biopsy and genetic testing confirmed dystrophic processes. These cases demonstrate that genetically mediated DCM may initially present as isolated cardiac disease. Early genetic testing can guide transplant planning, long-term care, and family counseling.
Cardiac CT fractal analysis of LV noncompaction and common cardiomyopathies.
Left ventricular noncompaction (LVNC), or hypertrabeculation, is a myocardial condition that remains challenging to diagnose and differentiate from other cardiomyopathies. This study evaluated the ability of cardiac CT to differentiate between LVNC, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and controls using fractal analysis of LV trabeculae. Subjects with LVNC, HCM, DCM, as well as controls, who underwent coronary CT angiography were included. LV trabecular structure was quantified using fractal analysis on a stack of 15 short-axis CT images. For each subject, maximum (FDmax) and average (FDglobal) fractal dimensions were reported. A subset of subjects also had clinically acquired cardiac MRI (CMR) exams for comparison. One-way ANOVA, Pearson correlation, and Bland-Altman analysis were used for statistical analysis. The study included 313 subjects (median age: 58.8 [48.1-68.0] years, 153 male) categorized into Control (89), LVNC (46), HCM (106), and DCM (72) cohorts. FDmax was significantly higher in LVNC (1.379 ± 0.047) than in Control (1.305 ± 0.033), HCM (1.321 ± 0.040), and DCM (1.344 ± 0.054) cohorts; all p < 0.001. Similarly, FDglobal was significantly higher in LVNC (1.279 ± 0.041) than in the other cohorts; all p < 0.05. In a subset of 132 subjects with both CT and CMR exams, fractal dimensions from the two modalities were strongly correlated (r = 0.63, p < 0.0001), with CT-derived values being higher (1.337 ± 0.049 vs. 1.262 ± 0.045, p < 0.0001). CT-derived fractal dimensions of LV trabecular structure were significantly higher in LVNC compared to control subjects, HCM, and DCM. CT-derived fractal dimensions strongly correlated with, but were higher than, those from cardiac MRI in the same subjects.
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Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.
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GenesLeft Ventricular Noncompaction Cardiomyopathy: Left Ventricular Dilation and Dysfunction at Baseline Portend the Risk of Death or Heart Transplantation.
The Canadian journal of cardiologyA combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.
The journal of cardiovascular agingIntegrated regulatory network based on lncRNA-miRNA-mRNA-TF reveals key genes and sub-networks associated with dilated cardiomyopathy.
Computational biology and chemistryCase Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction.
Frontiers in pediatrics[Familial left ventricular noncompaction: phenotypes and clinical course. Results of the multicenter registry].
Terapevticheskii arkhivCardiac-Specific Deletion of Orai3 Leads to Severe Dilated Cardiomyopathy and Heart Failure in Mice.
Journal of the American Heart AssociationCELF1 promotes vascular endothelial growth factor degradation resulting in impaired microvasculature in heart failure.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
GenesPhosphorylated cofilin-2 is more prone to oxidative modifications on Cys39 and favors amyloid fibril formation.
Redox biologyLMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.
Circulation. Genomic and precision medicineDifferent Manifestations in Familial Isolated Left Ventricular Non-compaction: Two Case Reports and Literature Review.
Frontiers in pediatricsInfections in children with left ventricular assist device.
Transplant infectious disease : an official journal of the Transplantation SocietyCardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.
Circulation. Arrhythmia and electrophysiologyA novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs.
European review for medical and pharmacological sciencesThe Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype.
Frontiers in physiologySOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Circulation. Genomic and precision medicineFamilial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.
ESC heart failureFamily screening in black patients with isolated left ventricular non-compaction: the Chris Hani Baragwanath experience.
Cardiovascular journal of AfricaMutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
Molecular genetics & genomic medicineASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Annals of neurologyLow mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.
Scientific reportsLeft ventricular noncompaction - Risk stratification and genetic consideration.
Journal of cardiologyDisruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
Science advancesLeft Ventricular Noncompaction: Cause or Consequence of Myocardial Disease? A Case Report and Literature Review.
CardiologyA novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
Molecular genetics & genomic medicineFLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Clinical geneticsHeterozygous Mylk3 Knockout Mice Partially Recapitulate Human DCM With Heterozygous MYLK3 Mutations.
Frontiers in physiologyPatients with Isolated Focal Right Ventricular Dyskinetic Segments: Toward a Better Understanding of This Cohort.
Journal of cardiovascular imagingAutosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Parkinsonism & related disordersCardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
Journal of the American College of CardiologyInhibition of the Hypoxia-Inducible Factor 1α-Induced Cardiospecific HERNA1 Enhance-Templated RNA Protects From Heart Disease.
CirculationAlström Syndrome Presenting as Isolated Dilated Cardiomyopathy.
Indian journal of pediatricsCharacterization of rhinovirus C from a 4-year-old boy with acute onset dilated cardiomyopathy in Jakarta, Indonesia.
JMM case reportsGenetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaClinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy.
Circulation journal : official journal of the Japanese Circulation SocietyThree new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyAtrial fibrillation in patients with inherited cardiomyopathies.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyPrevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.
Circulation. Heart failureClinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNovel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.
Journal of the American Heart AssociationThe pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei.
GeneClinical spectrum of woolly hair: indications for cerebral involvement.
Italian journal of pediatricsA Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart FoundationThe structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.
Journal of molecular and cellular cardiologyExome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.
CardiologyAdeno-associated Virus Serotype 9 - Driven Expression of BAG3 Improves Left Ventricular Function in Murine Hearts with Left Ventricular Dysfunction Secondary to a Myocardial Infarction.
JACC. Basic to translational scienceDevelopment of dilated cardiomyopathy and impaired calcium homeostasis with cardiac-specific deletion of ESRRβ.
American journal of physiology. Heart and circulatory physiologyLong-Term Biased β-Arrestin Signaling Improves Cardiac Structure and Function in Dilated Cardiomyopathy.
CirculationCo segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.
Biochemical and biophysical research communicationsAltered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy.
Archives of biochemistry and biophysicsMutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.
BMC medical geneticsInhibition of late sodium current attenuates ionic arrhythmia mechanism in ventricular myocytes expressing LaminA-N195K mutation.
Heart rhythmWhole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.
CardiologyTwo novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
BMC medical geneticsEvidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Molecular genetics and metabolismPivotal Role of Regulator of G-protein Signaling 12 in Pathological Cardiac Hypertrophy.
Hypertension (Dallas, Tex. : 1979)PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Human molecular geneticsA high frequency of viral agents yet absence of Borrelia burgdorferi is seen within the myocardium of subjects with normal left ventricular systolic function: an electron microscopy study.
Folia microbiologicaLeft ventricular noncompaction in a family with lamin A/C gene mutation.
Texas Heart Institute journalHealth Status and Psychological Distress in Patients with Non-compaction Cardiomyopathy: The Role of Burden Related to Symptoms and Genetic Vulnerability.
International journal of behavioral medicineSustained ventricular tachycardia in a patient with isolated non-compaction cardiomyopathy.
Cardiovascular journal of AfricaAssociações
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Doença com base genética
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É uma doença genética rara do músculo cardíaco que acarreta a dilatação do ventrículo esquerdo e diminui a força de bombeamento do sangue. Ela é considerada isolada porque afeta primariamente o coração sem envolvimento de outras partes do corpo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Miocardiopatia dilatada isolada familiar. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/miocardiopatia-dilatada-isolada-familiar
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Miocardiopatia dilatada isolada familiar
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- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub
