Search

Abstract 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 etiology of ALVC. Family members were then analyzed using PCR and Sanger sequencing. Clinical evaluations including 12-lead ECG, transthoracic echocardiography, and cardiac MRI were performed for all available first-degree relatives. Results WES identified two variants in the FLNC (c.G3694A) and JUP (c.G1372A) genes, the combination of which results in ALVC and SCD. Conclusion The present study comprehensively investigates the involvement of two discovered variants of FLNC and JUP in the pathogenesis of ALVC. More study is necessary to elucidate the genetic factors involved in the etiology of ALVC.

The article describes the cases of French-Canadian families with Naxos disease (NXD) linked to arrhythmogenic right ventricular cardiomyopathy (ARVC), palmoplantar keratoderma (PPK) and peculiar woolly hair. Other characteristics of the family members include homozygous mutation in the exon 5 of JUP gene, typical cutaneous and hair, and whites of French-Canadian descent. It is recommended that further studies are made to ascertain the cause of the genetic mutation in the heterozygous state.