Fig. 1

Pedigrees of six families affected with the DSP c.6310delA, p.(Thr2104Glnfs*12) variant. Squares represent men and circles women. Black-filled symbols represent individuals who fulfill DCM diagnostic criteria. Grey symbol represents individual who was considered affected. Arrows indicate index patients. Carriers of the DSP p.(Thr2104Glnfs*12) variant are marked in symbols with bolded outlines. Genotypes: +/− heterozygous for the DSP p.(Thr2104Glnfs*12), −/− wild type allele, * TTN p.(Val33411Thrfs*32). Year of birth, left ventricular ejection fraction and end-diastolic diameter and other clinical features listed below the symbols. LVEF left ventricular ejection fraction (%); LVEDD left ventricular end-diastolic diameter (mm). Pacemaker/Cardiac transplant: + indicates yes, − indicates no. ECG (electrocardiogram) - SR indicates sinus rhythm; (p)L/RBBB (partial) left/right bundle branch block; LAHB left anterior hemiblock. Arrhythmias - VT for ventricular tachycardia; VES for ventricular extrasystoles; AF for atrial fibrillation; NA not available. ProBNP pro b-type natriuretic peptide, ** BNP b-type natriuretic peptide