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Hipoplasia do anel da válvula mitral
ORPHA:99058CID-10 · Q23.2CID-11 · LA87.1YDOENÇA RARA

A hipoplasia do anel da valva mitral é uma malformação congênita rara da valva mitral, caracterizada por anel hipoplásico que geralmente aparece dentro de uma hipoplasia valvar mitral completa, causando estenose da valva mitral. A associação com outras malformações cardíacas é comum, incluindo coarctação da aorta, estenose da válvula aórtica, complexo de Shone e síndrome do coração esquerdo hipoplásico.

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Introdução

O que você precisa saber de cara

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A hipoplasia do anel da valva mitral é uma malformação congênita rara da valva mitral, caracterizada por anel hipoplásico que geralmente aparece dentro de uma hipoplasia valvar mitral completa, causando estenose da valva mitral. A associação com outras malformações cardíacas é comum, incluindo coarctação da aorta, estenose da válvula aórtica, complexo de Shone e síndrome do coração esquerdo hipoplásico.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q23.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Estenose mitral
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Estenose mitralMitral stenosis

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Últimos 10 anos122publicações
Pico201916 papers
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20202014Hoje · 2026📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

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Publicações mais relevantes

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0 papers (10 anos)
#1

Mechanisms of mitral valve development and disease.

Frontiers in cardiovascular medicine2026

The mitral valve apparatus comprises the annulus, valve leaflets, chordae tendineae, and papillary muscles, forming an integrated biomechanical unit essential for unidirectional blood flow. The leaflets and chordae are primarily derived from endocardial cells, and damage to these structures results in either mitral stenosis or mitral regurgitation, depending on the underlying pathology. This review compares three major mitral valve diseases, rheumatic mitral stenosis, congenital mitral stenosis, and myxomatous mitral valve prolapse, to highlight their distinct etiologies, molecular mechanisms, and structural endpoints. Rheumatic mitral stenosis is an acquired immune-mediated disease triggered by Group A streptococcal infection, in which molecular mimicry leads to autoantibody formation and chronic inflammation. Immune-cell infiltration and cytokine release drive the progression of leaflet fibrosis, commissural fusion, calcification, and pronounced chordal shortening, ultimately culminating in fixed obstruction. Large-scale genetic studies have not identified strong causal genes, instead revealing associations with immune-related risk loci, while valve-specific epigenetic mechanisms are poorly explored. Congenital mitral stenosis arises from developmental abnormalities of the mitral valve complex during embryogenesis and is classified into four anatomical subtypes. Due to its low incidence, the condition remains the least studied at the molecular and genetic levels. In contrast, myxomatous mitral valve prolapse is a degenerative, polygenic disorder driven by aberrant TGFβ-dependent endothelial-to-mesenchymal transformation, valve interstitial cell activation, and extracellular matrix remodeling. Genetic studies have identified multiple causal genes, including FLNA, DCHS1, DZIP1, and TNS1, underscoring its mechano-genetic origin. Despite their distinct causes, immune-mediated, developmental, and degenerative/genetic, all three diseases converge on progressive structural failure of the MV apparatus. Notably, pathological remodeling of the chordae plays a decisive role in disease progression and the need for surgical intervention. A deeper understanding of both shared and disease-specific mechanisms, particularly valve- and chordae-specific molecular regulation, is essential to advance translational research in mitral valve disease.

#2

Anomalous Attachment of the Posterior Mitral Annulus to the Crest of the Left Ventricle in Patients With Mitral Annular Disjunction (MAD) and Mitral Valve Prolapse.

The American journal of cardiology2026 Mar 15

The purpose of this study is to determine the site of attachment of the posterior mitral annulus to the left ventricle in patients with mitral annular disjunction (MAD) and mitral valve prolapse (MVP). The posterior annulus normally attaches to the inlet of the left ventricle. Some histological findings suggest that the disjunctive annulus may instead attach anomalously to the left ventricular (LV) crest in patients with MVP. We used cardiac magnetic resonance imaging to determine the site of attachment of the posterior mitral annulus (crest vs inlet) in 25 patients with MVP with MAD (MAD+ group) and 24 patients with MVP without MAD (MAD- group). The site of annular attachment was determined in the 3-chamber view during diastole. Our data demonstrate complete separation in mitral annular attachment site between MAD+ and MAD- groups. All patients in the MAD+ group demonstrated annular attachment to the LV crest, whereas all those in the MAD- group demonstrated annular attachment to the LV inlet (p <0.001). The presence of anomalous annular attachment in MAD+, but not MAD- patients, suggests this anatomic abnormality represents a feature of the MAD phenotype rather than the myxomatous phenotype. Anomalous annular attachment may potentially influence the arrhythmic potential of MAD.

#3

Mitral Annular Disjunction: A Roadmap for the Surgeon.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery2026 Jan 06

Mitral annular disjunction (MAD) is a structural abnormality of the mitral annulus fibrosus, associated with myxomatous leaflet degeneration, mitral valve prolapse (MVP), and ventricular arrhythmias. The combination of annular dilatation and abnormal annular motion increases mechanical stress on the mitral leaflets, triggering the degenerative process. This review summarizes the major pathophysiologic, diagnostic and therapeutic measures for the treatment of patients with MAD and an indication for mitral surgery. The diagnosis is primarily based on non-invasive imaging techniques. Echocardiography is the first choice due to its ability to assess real-time mitral valve function. Cardiac computed tomography and magnetic resonance imaging provide more detailed information on the extent of MAD and the presence of calcifications. Indications for surgical mitral valve treatment are based on current recommendations. In cases with MAD and moderate mitral regurgitation, early intervention may be advocated in the presence of arrhythmogenic MVP. Long-term outcomes after treatment are assessed through multimodal imaging and electrocardiogram monitoring. A ring annuloplasty is an important cornerstone of treatment. Stabilization of the mitral annulus abolishes functional prolapse and increases the antiarrhythmic effect of mitral surgery. However, postoperative arrhythmic burden may persist in some cases, requiring continuous monitoring and sometimes an additional device therapy. MAD represents a complex anatomical and functional entity associated with diagnostic challenges and rhythm abnormalities. Although the current indications for surgical treatment follow the recommendations for treatment of primary mitral regurgitation, early treatment may be important especially in patients with arrhythmias.

#4

A tale of two MADs: a case series.

European heart journal. Case reports2025 Jul

Mitral annular disjunction (MAD), consisting in a systolic separation between the posterior atrial wall-leaflet junction and the basal left ventricular wall, is a disputed imaging entity. MAD was initially associated with sudden cardiac death and ventricular arrhythmias in patients with mitral valve prolapse, whereas in more recent studies, it has been presented as a normal variant of the mitral annulus. In the present series of two cases, we show a case featuring a young woman with syncope that showed a microscopic MAD on echocardiography but, after a thorough multimodality assessment, was diagnosed with a coronary anomaly responsible for her presentation. In the second case, a young man presenting with aborted sudden cardiac death was found to have a macroscopic MAD in the context of mitral valve prolapse with numerous high-risk arrhythmic features. The need for assessing the diverse significance of MAD in the clinical and imaging context of each patient is underscored. Assessment of MAD should be complemented by other imaging and clinical parameters: the circumferential and longitudinal extent of MAD, the presence of repolarization abnormalities or ventricular arrhythmias, bi-leaflet prolapse, systolic curling, the Pickelhaube sign, left heart remodelling, and the presence of myocardial fibrosis, among others.

#5

Sex Differences in Embolic Stroke of Undetermined Source: Echocardiographic Features and Clinical Outcomes.

European journal of neurology2025 Apr

Sex differences in stroke are well-documented, but in embolic stroke of undetermined source (ESUS) remains underexplored. This study aims to investigate sex-related differences in clinical and cardiac features and stroke outcomes in ESUS. Retrospective observational single-center study including consecutive ESUS patients. Multivariate regression analyses evaluated the association between sex, echocardiographic features, and 90-day outcomes. Cox regression assessed the independent effect of sex on ischemic stroke recurrence, all-cause death, and atrial fibrillation detection after stroke (AFDAS). Among 556 patients, 248 (44.6%) were women, who were older and had more severe strokes. Women exhibited larger left atria (LA) as evidenced by a higher LA volume index (adjusted β-coefficient = 2.59, 95% CI 0.53-4.65, p = 0.014) and more valve abnormalities, such as mitral annulus calcification (aOR 2.72; 95% CI 1.43-5.20, p = 0.002). Men showed more markers of left ventricular (LV) disease, including reduced ejection fraction < 50% (aOR 0.44; 95% CI 0.20-0.93, p = 0.033) and LV wall motion abnormalities (aOR 0.37; 95% CI 0.19-0.74, p = 0.005). In multivariate analyses, the female sex was independently associated with reduced all-cause death (aHR 0.59; 95% CI 0.38-0.91, p = 0.019) and showed a trend toward higher AFDAS risk (aHR 1.57; 95% CI 0.99-2.49, p = 0.053). No association was found with 90-day outcomes or stroke recurrence. ESUS patients exhibit significant sex-based differences in echocardiographic features, with women showing larger LA and more valve abnormalities, while men present greater LV dysfunction. Female sex is independently associated with a lower risk of long-term mortality and a potentially higher risk of AFDAS. These findings underscore the need for individualized, sex-specific ESUS management strategies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 120

2026

Mechanisms of mitral valve development and disease.

Frontiers in cardiovascular medicine
2026

Anomalous Attachment of the Posterior Mitral Annulus to the Crest of the Left Ventricle in Patients With Mitral Annular Disjunction (MAD) and Mitral Valve Prolapse.

The American journal of cardiology
2026

Mitral Annular Disjunction: A Roadmap for the Surgeon.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Cardiac manifestations in children with osteogenesis imperfecta: A single-center observational study.

International journal of cardiology
2025

A Rare Cardiac Malformation: Isolated Double-Orifice Mitral Valve.

Echocardiography (Mount Kisco, N.Y.)
2025

Advanced Imaging of Mitral Annular Disjunction: Where Are We?

Echocardiography (Mount Kisco, N.Y.)
2025

Early-onset multivalvular disease caused by a missense variant in lamin A/C.

HGG advances
2025

Development of Semi-automatic Algorithms for the Echocardiographic Diagnosis of Posterior Systolic Curling.

Ultrasound in medicine &amp; biology
2025

Mitral Annular Calcification: Understanding the Disease and Treatment Options.

Structural heart : the journal of the Heart Team
2025

A tale of two MADs: a case series.

European heart journal. Case reports
2025

Can TAVI be performed without on-site cardiac surgery?

International journal of cardiology. Heart &amp; vasculature
2025

Sex Differences in Embolic Stroke of Undetermined Source: Echocardiographic Features and Clinical Outcomes.

European journal of neurology
2025

Caseous calcification of the mitral annulus associated with a complete atrioventricular block: a case report.

European heart journal. Case reports
2025

Left Atrial Mitral Valve Chordae Which Disturbed the Mitral Leaflet Motion and Induced Mitral Regurgitation.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2025

Functional Mitral Valve Regurgitation, Pathophysiology, Leaflet ReModeling, and the Role of Imaging.

Echocardiography (Mount Kisco, N.Y.)
2025

Mini-loop technique for idiopathic isolated tricuspid valve prolapse: A case report.

SAGE open medical case reports
2024

An Echocardiographic Study of a Rare Cause of Mitral Regurgitation: Hypoplastic Posterior Mitral Valve Leaflet.

Anatolian journal of cardiology
2025

Echocardiographic Evaluation of Chronic Aortic Regurgitation: Comparison With Cardiac Magnetic Resonance and Implications for Guideline Recommendations.

JACC. Cardiovascular imaging
2025

Assessment of atrial and ventricular mitral annular disjunction using cardiac computed tomography.

Kardiologia polska
2024

Age-related changes in mitral annular disjunction: A retrospective analysis using enhanced cardiac CT.

International journal of cardiology
2024

Three-dimensional anatomic features of the mitral valve that predict systolic anterior motion occurring during dobutamine stress echocardiography.

Echocardiography (Mount Kisco, N.Y.)
2025

Mitral Annulus Disjunction: A Comprehensive Cardiovascular Magnetic Resonance Phenotype and Clinical Outcomes Study.

Journal of magnetic resonance imaging : JMRI
2024

Clinical Presentation and Therapy of Hypoplastic Left Heart Syndrome.

Advances in experimental medicine and biology
2024

In vivo mitral valve repair for the transplanted donor heart in orthotopic heart transplantation.

Journal of cardiothoracic surgery
2024

Anomalous circumflex artery encircling the aortic annulus: implications for mitral valve repair.

Journal of cardiothoracic surgery
2024

Description and prevalence of ventricular mitral annular disjunction: variation of normality or pathological variant?

Revista espanola de cardiologia (English ed.)
2024

Predictors of permanent pacemaker implantation following transcatheter aortic valve replacement-the search is still on!

World journal of cardiology
2024

Imaging for the assessment of the arrhythmogenic potential of mitral valve prolapse.

European radiology
2023

When too much closeness harms: circumflex artery injury during mitral valve surgery.

Frontiers in cardiovascular medicine
2024

Morphology of the mural and commissural atrioventricular junction of the mitral valve.

Heart (British Cardiac Society)
2024

Pre-operative Imaging of Critical Coarctation of the Aorta: Impact on Surgical Approach and Outcomes.

Pediatric cardiology
2024

Experimental observation on a new chimney-shaped mechanical valve completely implanted above the mitral annulus in animals.

General thoracic and cardiovascular surgery
2023

The evolving role of cardiovascular magnetic resonance in the assessment of mitral valve prolapse.

Frontiers in cardiovascular medicine
2023

Infant Mitral Valve Replacement: Current State of the Art.

Seminars in thoracic and cardiovascular surgery. Pediatric cardiac surgery annual
2023

[Microvascular perfusion and cardiac function after revascularization assessed by myocardial contrast echocardiography in patients with acute ST-segment elevation myocardial infarction].

Zhonghua xin xue guan bing za zhi
2022

Expected small left heart size in the presence of congenital diaphragmatic hernia: Fetal values and Z-scores for infants confirmed to have no heart disease postnatally.

Frontiers in pediatrics
2023

Mitral Valve Prolapse and Sudden Cardiac Death in Athletes at High Risk.

Current cardiology reviews
2022

Level of agreement between three-dimensional transthoracic and transesophageal echocardiography for mitral annulus evaluation: A feasibility and comparison study.

Echocardiography (Mount Kisco, N.Y.)
2022

Mitral valve stenosis in the current era: a changing landscape.

Journal of cardiovascular medicine (Hagerstown, Md.)
2022

Surgical Management for Systolic Anterior Motion (SAM) of the Mitral Valve in Obstructive Hypertrophic Myopathy.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2022

Anomalous origin of the left coronary artery from the pulmonary artery as a rare cause of mitral valve prolapse: a case report.

BMC cardiovascular disorders
2022

Surgical techniques for infectious endocarditis of the mitral valve with hypertrophic cardiomyopathy in Costello syndrome.

Journal of cardiology cases
2021

3D Echocardiography - A Useful Method for Cardiovascular Risk Assessment in End-Stage Renal Disease Patients.

Physiological research
2022

Impact of Sex and Obesity on Echocardiographic Parameters in Children and Adolescents.

Pediatric cardiology
2022

[Mitral valve prolapse and mitral annulus disjunction: be aware of a potential arrhythmogenic substrate].

Giornale italiano di cardiologia (2006)
2022

Additive prognostic and diagnostic value of diastolic exercise parameters in patients referred for exercise echocardiography.

European heart journal. Cardiovascular Imaging
2022

Epidemiology of heart disease in English Bull Terriers and echocardiographic characteristics of mitral valve abnormalities.

The Journal of small animal practice
2022

A Case of Transient Mitral Regurgitation: Not Everything Is Always What It Seems.

Journal of cardiothoracic and vascular anesthesia
2022

Resting Left Ventricular Global Longitudinal Strain to Identify Silent Myocardial Ischemia in Asymptomatic Patients with Diabetes Mellitus.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2021

The disappearance of nonsustained ventricular tachycardia after surgical repair in a patient with mitral annular disjunction and mitral valve prolapse.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2022

Fetal growth of left-sided structures and postnatal surgical outcome in borderline left heart varies by cardiac phenotype.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2021

Feature tracking myocardial strain analysis in patients with bileaflet mitral valve prolapse: relationship with LGE and arrhythmias.

European radiology
2020

The analysis of echocardiographic results in patients suffering from epidermolysis bullosa.

Postepy dermatologii i alergologii
2021

Myxomatous Mitral Valve Disease with Mitral Valve Prolapse and Mitral Annular Disjunction: Clinical and Functional Significance of the Coincidence.

Journal of cardiovascular development and disease
2021

Evolution from mitral annular dysfunction to severe mitral regurgitation in Barlow's disease.

Interactive cardiovascular and thoracic surgery
2020

A Blast From the Past: Radiation Therapy During Childhood Causing Cardiac Fibrosis and Calcification Leading to Complete Heart Block.

Cureus
2021

Comparison of mitral annular displacement and global longitudinal strain imaging for predicting significant coronary atherosclerotic disease in patients of chronic stable angina pectoris.

The international journal of cardiovascular imaging
2020

Presentation and Outcome of Arrhythmic Mitral Valve Prolapse.

Journal of the American College of Cardiology
2020

Epidemiological, clinical, and echocardiographic features, and outcome of dogs with Ebstein's anomaly: 32 cases (2002-2016).

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2020

Mitral annulus morphometry in degenerative mitral regurgitation phenotypes.

Echocardiography (Mount Kisco, N.Y.)
2020

Outcomes of Supra-annular Mechanical Atrioventricular Valve Replacement with Polytetrafluoroethylene Graft in Infants and Children.

Pediatric cardiology
2019

Mitral Valve Prolapse, Ventricular Arrhythmias, and Sudden Death.

Circulation
2019

Short-term results in infants with multiple left heart obstructive lesions.

Congenital heart disease
2019

Pediatric malignancies: Is the prechemotherapy left ventricular function normal?

Echocardiography (Mount Kisco, N.Y.)
2019

Primary cardiac dedifferentiated liposarcoma in a middle-aged female: a case report.

Journal of cardiothoracic surgery
2019

[Clinical Course and Predictors of Ischemic Mitral Regurgitation in Patients with Myocardial Infarctions of Different Localizations].

Kardiologiia
2019

Mitral annular disjunction: A systematic review of the literature.

Echocardiography (Mount Kisco, N.Y.)
2019

Prediction of biventricular repair by echocardiography in borderline ventricle.

Chinese medical journal
2021

Mitral valve in hypertrophic cardiomyopathy: a three-dimensional transesophageal study.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
2019

Perioperative management of a patient with double orifice mitral valve with supramitral ring with subaortic membrane with ventricular septal defect and severe pulmonary hypertension: Report of a rare case.

Annals of cardiac anaesthesia
2019

Morphological Assessment of the Tricuspid Apparatus and Grading Regurgitation Severity in Patients With Functional Tricuspid Regurgitation: Thinking Outside the Box.

JACC. Cardiovascular imaging
2019

Predictive Factors for Progression of Mitral Regurgitation in Asymptomatic Patients With Mitral Valve Prolapse.

The American journal of cardiology
2019

Mitral Annulus Calcium Score.

Circulation. Cardiovascular imaging
2019

Mechanistic insights into atrial functional mitral regurgitation: Far more complicated than just left atrial remodeling.

Echocardiography (Mount Kisco, N.Y.)
2019

Coexistent bicuspid aortic valve and mitral valve prolapse: epidemiology, phenotypic spectrum, and clinical implications.

European heart journal. Cardiovascular Imaging
2019

Outcomes of Valve Repair for Degenerative Disease in Patients With Mitral Annular Calcification.

The Annals of thoracic surgery
2018

The Mitral Annulus Disjunction Arrhythmic Syndrome.

Journal of the American College of Cardiology
2019

Abnormal exercise echocardiography plus abnormal E/e' ratio at exercise portends worse outcome in patients with dyspnea.

Journal of cardiology
2018

Diagnosis of Isolated Cleft Mitral Valve Using Three-Dimensional Echocardiography.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2018

Aortic elasticity and the influence of valve morphology in children with bicuspid aortic valve.

Cardiology in the young
2018

Modified Ross-Konno procedure in children: subcoronary implantation technique with Konno incision for annular and subannular hypoplasia.

Interactive cardiovascular and thoracic surgery
2018

Preoperative echocardiographic measures in interrupted aortic arch: Which ones best predict surgical approach and outcome?

Congenital heart disease
2018

Transmitral Septal Myectomy for Hypertrophic Obstructive Cardiomyopathy.

The Annals of thoracic surgery
2018

Para-prosthetic Leaks Following Mitral Valve Replacement: Case Analysis on a 20-year Period.

Current cardiology reviews
2018

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

European heart journal
2018

Left atrial outflow obstruction in double-outlet right atrium.

Asian cardiovascular &amp; thoracic annals
2017

Preoperative assessment of mitral valve abnormalities in left atrial myxoma patients using cardiac CT.

Oncotarget
2017

Morphologic variability of the mitral valve leaflets.

The Journal of thoracic and cardiovascular surgery
2017

Surgical Management of Caseous Calcification of the Mitral Annulus.

The Annals of thoracic surgery
2017

Elasticity of ascending aorta and left ventricular myocardial functions in children with bicuspid aortic valve.

Echocardiography (Mount Kisco, N.Y.)
2017

Papillary muscle approximation in mitral valve repair for secondary MR.

Journal of thoracic disease
2017

Biomechanics raises solution to avoid geometric mitral valve configuration abnormalities in ischemic mitral regurgitation.

Journal of thoracic disease
2017

Assessment of mitral apparatus in patients with acute inferoposterior myocardial infarction and ischaemic mitral regurgitation with two-dimensional echocardiography from anatomically correct imaging planes.

Kardiologia polska
2017

The Infant with Aortic Arch Hypoplasia and Small Left Heart Structures: Echocardiographic Indices of Mitral and Aortic Hypoplasia Predicting Successful Biventricular Repair.

Pediatric cardiology
2018

Repair of a Submitral Aneurysm with associated left atrial wall dissection.

Asian cardiovascular &amp; thoracic annals
2017

Epidemiology, anatomy, pathophysiology and clinical evaluation of functional tricuspid regurgitation.

Minerva cardioangiologica
2017

Echocardiographic Assessment of Degenerative Mitral Stenosis: A Diagnostic Challenge of an Emerging Cardiac Disease.

Current problems in cardiology
2017

Myocardial performance index in active and inactive paediatric systemic lupus erythematosus.

Clinical and experimental rheumatology
2017

Cardiac findings in Quarter Horses with heritable equine regional dermal asthenia.

Journal of the American Veterinary Medical Association
2017

Concomitant mitral annular calcification and severe aortic stenosis: prevalence, characteristics and outcome following transcatheter aortic valve replacement.

European heart journal
2017

Four-tiered echocardiographic analysis approach for congenital mitral valve malformations: Four years of experience.

International journal of cardiology
2016

Association of A Dilated Coronary Sinus in the Fetus with Actual and Apparent Coarctation of the Aorta and Diminutive Left Heart Structures.

Pediatric cardiology
2016

Novel Annular and Subvalvular Enlargement in Congenital Mitral Valve Replacement.

The Annals of thoracic surgery
2016

Morphofunctional Abnormalities of Mitral Annulus and Arrhythmic Mitral Valve Prolapse.

Circulation. Cardiovascular imaging
2016

Abnormalities of the Mitral Apparatus in Hypertrophic Cardiomyopathy: Echocardiographic, Pathophysiologic, and Surgical Insights.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2016

Mitral loop cerclage as a variant form of mitral cerclage annuloplasty that adds a device (CSTV) for preventing potential complications: a preclinical proof of concept and feasibility study.

EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology
2017

Circumflex coronary artery injury after mitral valve surgery: A report of four cases and comprehensive review of the literature.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2016

Electrocardiography as the First Step for the Further Examination of Cardiac Involvement in Myasthenia Gravis.

BioMed research international
2016

Large Ostium Primum Interatrial Septum Defect in Asymptomatic Elderly Patient.

Journal of cardiovascular echography
2016

Pilot study of chronic maternal hyperoxygenation and effect on aortic and mitral valve annular dimensions in fetuses with left heart hypoplasia.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2015

Review of Congenital Mitral Valve Stenosis: Analysis, Repair Techniques and Outcomes.

Cardiovascular engineering and technology
2015

Transaortic Chordal Cutting: Mitral Valve Repair for Obstructive Hypertrophic Cardiomyopathy With Mild Septal Hypertrophy.

Journal of the American College of Cardiology
2015

Treatment of secondary mitral valve regurgitation: why we need combined and evolving percutaneous strategies to tackle this moving target.

EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology
2015

The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure.

PloS one
2015

Evaluation of Acquired Valvular Heart Disease by the Pediatrician: When to Follow, When to Refer for Intervention? Part II.

Indian journal of pediatrics
2016

Assessment of Myocardial Function in Children before and after Autologous Peripheral Blood Stem Cell Transplantation.

Echocardiography (Mount Kisco, N.Y.)
2016

Double-orifice mitral valve treated by percutaneous balloon valvuloplasty.

Asian cardiovascular &amp; thoracic annals
2015

Right Ventricular Enlargement In Utero: Is It Coarctation?

Pediatric cardiology
2014

An uncommon case of isolated parachute-like asymmetric mitral valve in an adult.

The Journal of heart valve disease
2015

Surgical indications and results of mitral valve repair in pediatric patients with ventricular septal defects accompanied by mitral valve regurgitation.

The Annals of thoracic surgery

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Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Mechanisms of mitral valve development and disease.
    Frontiers in cardiovascular medicine· 2026· PMID 41717582mais citado
  2. Anomalous Attachment of the Posterior Mitral Annulus to the Crest of the Left Ventricle in Patients With Mitral Annular Disjunction (MAD) and Mitral Valve Prolapse.
    The American journal of cardiology· 2026· PMID 41478441mais citado
  3. Mitral Annular Disjunction: A Roadmap for the Surgeon.
    European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery· 2026· PMID 41408377mais citado
  4. A tale of two MADs: a case series.
    European heart journal. Case reports· 2025· PMID 40689163mais citado
  5. Sex Differences in Embolic Stroke of Undetermined Source: Echocardiographic Features and Clinical Outcomes.
    European journal of neurology· 2025· PMID 40186421mais citado
  6. Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.
    Taiwan J Obstet Gynecol· 2026· PMID 41617352recente
  7. [A case of double-ventricular arrhythmogenic cardiomyopathy with mitral annular disjunction].
    Zhonghua Xin Xue Guan Bing Za Zhi· 2026· PMID 41529854recente
  8. Transcatheter Closure of a Residual Mid-Leaflet Mitral Valve Cleft With a Siege Vascular Plug.
    Catheter Cardiovasc Interv· 2026· PMID 41521446recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99058(Orphanet)
  2. MONDO:0020399(MONDO)
  3. GARD:19625(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55789332(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

Hipoplasia do anel da válvula mitral
Compêndio · Raras BR

Hipoplasia do anel da válvula mitral

ORPHA:99058 · MONDO:0020399
CID-10
Q23.2 · Estenose mitral congênita
CID-11
MedGen
UMLS
C3165203
Wikidata
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