A Swiss DSG2 Founder Variant Promotes Left Ventricular Thrombus Formation Causing Cardioembolic Stroke in Autosomal Recessive Arrhythmogenic Cardiomyopathy

Phenotypic Transition From Danon Disease to Arrhythmogenic Cardiomyopathy: Multimodality and Histopathologic Evidence.

BACKGROUND Pathogenic variants in lysosome-associated membrane protein 2 (LAMP2) gene cause X-linked Danon disease, associated with hypertrophic cardiomyopathy. Arrhythmogenic cardiomyopathy is characterized by myocardial fibrofatty replacement and ventricular arrhythmias. CASE SUMMARY A 30-year-old woman presented w...

Biventricular arrhythmogenic cardiomyopathy due to a PKP2 mutation with severe heart failure and multifocal thromboembolism as the clinically apparent presentation: a case report

Abstract Background Arrhythmogenic cardiomyopathy (ACM) is a genetic myocardial disease classically characterized by ventricular arrhythmias and right ventricular involvement. Biventricular variants involving PKP2 mutations are increasingly recognized but rarely present primarily as severe heart failure and multi-focal...

Incidence of Atrial and Ventricular Arrhythmias in Patients With Titin Truncating Variants Across the Ventricular Morphofunctional Phenotypic Spectrum.

BACKGROUND Titin truncating variants (TTNtvs), the most common genetic cause of dilated cardiomyopathy (DCM), are over-represented in early-onset atrial fibrillation (AF) and unexplained sudden cardiac arrest/death (SCA/SCD), suggesting they can cause arrhythmias before development of overt ventricular cardiomyopathy....

Genotype and arrhythmic risk in dilated cardiomyopathy.

Ventricular Fibrillation in PRKAG2 Cardiomyopathy: A Genetic Arrhythmia Substrate Beyond Wolff-Parkinson-White.

BACKGROUND PRKAG2 syndrome is a rare autosomal dominant glycogen storage cardiomyopathy characterized by left ventricular hypertrophy, ventricular pre-excitation, and progressive conduction system disease. CASE SUMMARY We report the case of a 25-year-old woman with genetically confirmed PRKAG2 syndrome who presented...

The Multifaceted Role of the FLNC Gene in Hereditary Cardiomyopathies and Prognosis

This narrative review summarizes FLNC molecular biology, genotype-phenotype relationships, imaging features, arrhythmic risk, and implications for clinical management and discusses the limited evidence linking FLNCtv to arrhythmogenic mitral valve prolapse with mitral annular disjunction.