CLINICAL PROFILE AND LONG-TERM FOLLOW-UP OF A COHORT OF PATIENTS WITH DESMOPLAKIN CARDIOMYOPATHY.
Sign Up to like & getrecommendations! Published in 2022 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2022.04.015
Abstract: BACKGROUND Desmoplakin (DSP) genetic variants have been reported in Arrhythmogenic Cardiomyopathy (ACM) with particular regard to predominant left ventricular involvement. OBJECTIVE To improve our understanding of clinical phenotype and outcome of DSP variant carriers. METHODS… read more here.
Keywords: major ventricular; ventricular arrhythmias; profile long; clinical profile ... See more keywords
DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2023.1130903
Abstract: Background Pathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, curly or wavy hair, and palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated with DSP cardiomyopathy might… read more here.
Keywords: increased trabeculation; 6310dela thr2104glnfs; dsp 6310dela; participants dsp ... See more keywords