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.
Introdução
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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.
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Sinais e sintomas
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Características mais comuns
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Genética e causas
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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🇧🇷 Atendimento SUS — Hipoplasia do anel da válvula mitral
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Publicações mais relevantes
Mechanisms of mitral valve development and disease.
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.
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 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.
Mitral Annular Disjunction: A Roadmap for the Surgeon.
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.
A tale of two MADs: a case series.
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.
Sex Differences in Embolic Stroke of Undetermined Source: Echocardiographic Features and Clinical Outcomes.
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.
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Mitral Annular Disjunction: A Roadmap for the Surgeon.
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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.
- Mechanisms of mitral valve development and disease.
- 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.
- 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
- A tale of two MADs: a case series.
- Sex Differences in Embolic Stroke of Undetermined Source: Echocardiographic Features and Clinical Outcomes.
- 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.
- [A case of double-ventricular arrhythmogenic cardiomyopathy with mitral annular disjunction].
- Transcatheter Closure of a Residual Mid-Leaflet Mitral Valve Cleft With a Siege Vascular Plug.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99058(Orphanet)
- MONDO:0020399(MONDO)
- GARD:19625(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
