Article
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
BMC medical genetics - 31 Jan 2020
Heliö Krista, Kangas-Kontio Tiia, Weckström Sini, Vanninen Sari U M, Aalto-Setälä Katriina, Alastalo Tero-Pekka, Myllykangas Samuel, Heliö Tiina M, Koskenvuo Juha W
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (LMNA) genes are the two most significant contributors in familial DCM. Previously mutations in the desmoplakin (DSP) gene have been associated with...
Topics
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Arrhythmogenic Right Ventricular Dysplasia
- Cardiomyopathy, Dilated
- Contrast Media
- Desmoplakins
- Female
- Gadolinium