ArticleHeart rhythm O22021
Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome.
Article in Heart rhythm O2, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Clinical, pathological, and genetic characteristics of 23 DMD patients in northern China.Orphanet journal of rare diseases · 2026Article
- Utility of genetic screening for the prediction of severe arrhythmic outcomes in mitral valve prolapse.medRxiv : the preprint server for health sciences · 2026Article
- Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.Genes & genomics · 2025Article
- The Arrhythmic Mitral Valve Prolapse Syndrome: A New Insight for Understanding the Arrhythmogenic Substrate?JACC. Case reports · 2025Article
- Arrhythmic mitral valve complex: diagnostic and therapeutic approach.Archivos de cardiologia de Mexico · 2025Review
- Distinguishing benign mitral valve prolapse from arrhythmic mitral valve prolapse: not always a benign entity.Proceedings (Baylor University. Medical Center) · 2025Article
- The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.Journal of clinical medicine · 2023Review
- DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.Circulation. Genomic and precision medicine · 2023Article
- Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives.Heart rhythm O2 · 2023Review
- Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?-a case report.European heart journal. Case reports · 2023Article
- Genetics and pathophysiology of mitral valve prolapse.Frontiers in cardiovascular medicine · 2023Review
- Mitral Valve Prolapse and Sudden Cardiac Death in Athletes at High Risk.Current cardiology reviews · 2023Article
- Developing a Mechanistic Approach to Sudden Death Prevention in Mitral Valve Prolapse.Journal of clinical medicine · 2022Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitral valve prolapse (MVP) is largely considered a benign condition. However, MVP is over-represented consistently in sudden unexplained death in the young (SUDY) cohorts.
objectiveTo determine the prevalence and potential genetic underpinnings of suspected arrhythmogenic MVP in a referral cohort of SUDY cases.
methodsIn this retrospective study, medical records/autopsy reports and whole exome molecular autopsy (WEMA) results for 77 SUDY victims (27 female; average age at death 20.6 ± 8.9 years) were reviewed for evidence of myxomatous MVP and left ventricle (LV) fibrosis. Variants detected in the prespecified 147 WEMA gene panel with a minor allele frequency ≤ 0.001 in public exomes/genomes were classified using the 2015 American College of Medical Genetics (ACMG) guidelines.
resultsOverall, 6 of 77 (7.8%; 2 female; average age at death 20.7 ± 6.9 years) SUDY cases had MVP as the lone abnormal postmortem finding. The majority had bileaflet involvement (5/6; 83%) and microscopic LV fibrosis (5/6; 83%). In 2 SUDY cases (33%), subjects were diagnosed with MVP by echocardiography prior to death. Unexpectedly, an ACMG pathogenic/likely pathogenic (P/LP) was more likely to be detected in SUDY cases with MVP than those without (3/6 [50%] vs 9/71 [13%];
conclusionThis WEMA series provides additional evidence that the combination of MVP and LV fibrosis underlies an unexpected number of SUDY cases. Whether P/LP variants in cardiomyopathy/channelopathy-susceptibility genes contribute to the pathogenesis of arrhythmogenic MVP requires further investigation.
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