1. Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features.
- Author
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Mehdizadeh K, Soveizi M, Askarinejad A, Elahifar A, Masoumi T, Fazelifar AF, Asadian S, Maleki M, and Kalayinia S
- Subjects
- Humans, Male, Female, Iran, gamma Catenin genetics, Adult, Mutation, Heredity, Desmoplakins genetics, Middle Aged, DNA Mutational Analysis, Arrhythmogenic Right Ventricular Dysplasia genetics, Arrhythmogenic Right Ventricular Dysplasia diagnosis, Arrhythmogenic Right Ventricular Dysplasia physiopathology, Arrhythmogenic Right Ventricular Dysplasia diagnostic imaging, Risk Factors, Filamins, Pedigree, Genetic Predisposition to Disease, Phenotype, Death, Sudden, Cardiac etiology, Exome Sequencing
- 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., (© 2024. The Author(s).)
- Published
- 2024
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