Sudden Cardiac Arrest in a Patient With Mitral Valve Prolapse and LMNA and SCN5A Mutations

Asha M Mahajan; Yuval Itan; Marina Cerrone; James Horowitz; Linda Borneman; Larry Chinitz; Lior Jankelson

doi:10.1016/j.jaccas.2020.11.046

Sudden Cardiac Arrest in a Patient With Mitral Valve Prolapse and LMNA and SCN5A Mutations

JACC Case Rep. 2021 Feb 17;3(2):242-246. doi: 10.1016/j.jaccas.2020.11.046. eCollection 2021 Feb.

Authors

Asha M Mahajan¹, Yuval Itan^{2

3}, Marina Cerrone¹, James Horowitz¹, Linda Borneman¹, Larry Chinitz¹, Lior Jankelson¹

Affiliations

¹ Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York, USA.
² Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.
³ The Charles Bronfman Institute for Personalized Medicine, Mount Sinai School of Medicine, New York, New York, USA.

Abstract

Bileaflet mitral valve prolapse (Bi-MVP) is associated with increased risk for cardiac arrest. We describe a patient who presented after a cardiac arrest with Bi-MVP and variants in Lamin A/C (LMNA) and the sodium channel alpha-subunit 5a (SCN5A). Genetic variants may be the culprit for arrhythmogenesis in Bi-MVP patients. (Level of Difficulty: Intermediate.).

Keywords: CADD, Combined Annotation Dependent Depletion; ECG, electrocardiogram; LV, left ventricle; MAD, mitral annular disjunction; MRI, magnetic resonance imaging; MSC, mutation significance cutoff; MVP, mitral valve prolapse; QTc, corrected QT; VF, ventricular fibrillation; genetic disorders; mitral valve; ventricular fibrillation.

Publication types

Case Reports