Article
Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features.
BMC cardiovascular disorders - 23 Aug 2024
Mehdizadeh Kasra, Soveizi Mahdieh, Askarinejad Amir, Elahifar Amin, Masoumi Tannaz, Fazelifar Amir Farjam, Asadian Sanaz, Maleki Majid, Kalayinia Samira
Abstract excerpt
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) characterized by progressive myocardial loss and replacement with fibro-fatty tissue is a major cause of sudden cardiac death (SCD). In particular, ACM with predominantly left ventricular involvement, known as arrhythmogenic left ventricular cardiomyopathy (ALVC), has a poor prognosis. METHODS: The proband underwent whole-exome sequencing (WES) to determine the...
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