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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.


ABSTRACT:

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

SUBMITTER: Parthiban N 

PROVIDER: S-EPMC10141575 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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