A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.

V KarvonenL HarjamaK HeliöK KettunenO ElomaaJ W KoskenvuoJ KereS WeckströmM HolmströmJ SaarelaA RankiT HeliöK Hannula-Jouppi

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)

We report a novel truncating DSP mutation causing focal PPK with varying severity and left ventricular dilatation and ventricular extrasystoles. This finding emphasizes the importance of genetic diagnosis in patients with PPK for clinical counselling and management of cardiomyopathies and arrhythmias.

Keyphrases

left ventricular
heart failure
acute myocardial infarction
gene expression
mitral valve
hypertrophic cardiomyopathy
hepatitis c virus
acute coronary syndrome
copy number
atrial fibrillation
congenital heart disease
aortic stenosis