5 articles
Carvajal syndrome
Carvajal syndrome is a rare genetic disorder with woolly hair, thickened skin on the palms and soles, and dilated cardiomyopathy that can be fatal in childhood.
Desmoglein-2
Desmoglein-2 (DSG2) is a cardiac desmosomal cadherin at 18q12 whose variants cause arrhythmogenic cardiomyopathy, accounting for roughly 2.5–10% of cases, with founder variant p.Phe531Cys common in China.
Histiocytoid cardiomyopathy
Histiocytoid cardiomyopathy (infantile xanthomatous or oncocytic cardiomyopathy) is a rare mitochondrial arrhythmogenic disorder of infants under 2, mostly girls, causing incessant ventricular tachycardia, sudden death, and mitochondria-rich histiocytoid myocardial cells.
Naxos disease
Naxos disease, also called keratoderma with woolly hair type I, is a rare autosomal recessive cardiocutaneous disorder combining arrhythmic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma, usually caused by a homozygous JUP plakoglobin deletion.
Plakophilin-2
Plakophilin-2 (PKP2), also called plakophilin 2, is an 881-amino-acid desmosomal armadillo-repeat protein encoded at 12p11 and the main cardiac plakophilin; PKP2 loss-of-function mutations are the leading cause of arrhythmogenic right ventricular cardiomyopathy.