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Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report

BACKGROUND: Despite recent advances in cardiology, sudden cardiac death remains to be a significant challenge, and the precise cause for a large proportion of sudden cardiac arrests remains unclear. CASE SUMMARY: A 48-year-old fit and healthy medical personnel with no previous medical illness suffer...

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Autores principales: Parthiban, Nirmalatiban, Sani, Huzairi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10141575/
https://www.ncbi.nlm.nih.gov/pubmed/37123658
http://dx.doi.org/10.1093/ehjcr/ytad196
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author Parthiban, Nirmalatiban
Sani, Huzairi
author_facet Parthiban, Nirmalatiban
Sani, Huzairi
author_sort Parthiban, Nirmalatiban
collection PubMed
description BACKGROUND: Despite recent advances in cardiology, sudden cardiac death remains to be a significant challenge, and the precise cause for a large proportion of sudden cardiac arrests remains unclear. CASE SUMMARY: A 48-year-old fit and healthy medical personnel with no previous medical illness suffered from ventricular fibrillation at his workplace and was successfully resuscitated. Although the basal electrocardiogram did not show a Brugada pattern, we identified mutations in the CACNB2 genes (Chr10: 18150879 and Chr10: 18539538 variants), which are pathogenic variants linked to the Brugada syndrome. A transthoracic echocardiogram and cardiac magnetic resonance revealed mitral valve prolapse (MVP) with characteristics of Barlow’s disease, as well as malignant MVP features such as the presence of bileaflet prolapse, mitral annular disjunction, and inferior and inferolateral left ventricular wall fibrosis. DISCUSSION: To the best of our knowledge, this is the first case report on sudden cardiac arrest in a patient with malignant MVP with a CACNB2 gene mutation. This study highlights the merit for further research to establish standardized criteria for the diagnosis of malignant MVP, for the primary prevention of sudden cardiac death. Cardiac MR should also be part of the diagnostic evaluation of MVP to allow for the early detection of arrhythmogenic features, especially left ventricular fibrosis. We also suggest that the utility of genetic testing should be complementary to the current diagnostic tools for unexplained cardiac arrest and patients with MVP. This would help to better understand the genetic basis between these two conditions for better risk stratification and early cardiac intervention.
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spelling pubmed-101415752023-04-29 Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report Parthiban, Nirmalatiban Sani, Huzairi Eur Heart J Case Rep Case Report BACKGROUND: Despite recent advances in cardiology, sudden cardiac death remains to be a significant challenge, and the precise cause for a large proportion of sudden cardiac arrests remains unclear. CASE SUMMARY: A 48-year-old fit and healthy medical personnel with no previous medical illness suffered from ventricular fibrillation at his workplace and was successfully resuscitated. Although the basal electrocardiogram did not show a Brugada pattern, we identified mutations in the CACNB2 genes (Chr10: 18150879 and Chr10: 18539538 variants), which are pathogenic variants linked to the Brugada syndrome. A transthoracic echocardiogram and cardiac magnetic resonance revealed mitral valve prolapse (MVP) with characteristics of Barlow’s disease, as well as malignant MVP features such as the presence of bileaflet prolapse, mitral annular disjunction, and inferior and inferolateral left ventricular wall fibrosis. DISCUSSION: To the best of our knowledge, this is the first case report on sudden cardiac arrest in a patient with malignant MVP with a CACNB2 gene mutation. This study highlights the merit for further research to establish standardized criteria for the diagnosis of malignant MVP, for the primary prevention of sudden cardiac death. Cardiac MR should also be part of the diagnostic evaluation of MVP to allow for the early detection of arrhythmogenic features, especially left ventricular fibrosis. We also suggest that the utility of genetic testing should be complementary to the current diagnostic tools for unexplained cardiac arrest and patients with MVP. This would help to better understand the genetic basis between these two conditions for better risk stratification and early cardiac intervention. Oxford University Press 2023-04-18 /pmc/articles/PMC10141575/ /pubmed/37123658 http://dx.doi.org/10.1093/ehjcr/ytad196 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Parthiban, Nirmalatiban
Sani, Huzairi
Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
title Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
title_full Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
title_fullStr Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
title_full_unstemmed Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
title_short Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
title_sort sudden cardiac arrest in a patient with malignant mitral valve prolapse with cacnb2 gene mutation: a simple coincidence or coexistence?—a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10141575/
https://www.ncbi.nlm.nih.gov/pubmed/37123658
http://dx.doi.org/10.1093/ehjcr/ytad196
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