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Table 1 The main clinical features of the index patients and their relatives

From: DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

FamilyAge (M/F)Genotype, * = TTN+Conduction defectArrhythmiasPM, ICDLVEDD (mm)EF (%)proBNP (ng/l), ** = BNPAge at dgPhenotypeOther
Family 1
 II.268 M−/−AVB1nono537622  
 II.465 M−/−*pLBBBVT, VESm/R, AFICD6833205958DCM 
II.551 M+/− *LAHBnono8010–152135**51DCMHeart transplant
 II.963 M−/−nonono476513  
 III.141 M−/−nonono485716  
 III.331 M−/−nonono5867109  
 III.744 M−/−*LAHBnono5514NA44DCM 
Family 2
II.267F+/−LAHB, RBBBAFno683065046DCMSCD
 II.466F+/−AVB1, LAHBnono5545174260DCM 
 III.249F+/−nonono4950–5643  
 III.347 M−/−nonono595730  
 III.446 M−/−nonono546455  
 III.542 M−/−nobradycardiano565556  
 III.640 M+/−nonono5254–5579  
 IV.126 M−/−pRBBBnono4954–5920  
Family 3
II.181 M+/−AVB1, LBBBVTm, AFno8318–2423,47872DCM 
 III.156 M+/−nonono6052265Slightly dilated ventricle (Henry’s formula: 118.8%)
 III.253 M+/−nonono5456–5813  
 III.349F−/−nonono486324  
Family 5
II.354F+/−AVB1, LAHBVTm, VESpno6030–35140043DCM 
 III.121F−/−nobradycardiano506071  
Family 6
II.159 M+/−AVB3VT, AFPM8319983648DCMHeart transplant
Family 7
II.270F+/−AVB2, LAHBVESp, AFCRT-D6015–20242850DCM 
 II.462F−/−nonono477248  
 II.557 M+/−noVESno6732455NADCM 
 III.150F−/−nonono4665123  
 III.347 M−/−NANAnoNANANA  
Family 8
 48F+/−AVB1VTPM7022311742DCM 
Family 9
 27F+/−noVESno604040022DCM 
Family 10
 II.1M+/−noVESno545221  
III.114 M+/−noVFno5517NA14DCMSCD
Family 11
 43 M+/−AVB2nono525220**  
  1. Index patients are marked in bold. Symbols and abbreviations: Age (M/F) age and gender (M: male, F: female); genotype +/− heterozygous for the DSP p.(Thr2104Glnfs*12), −/− wild type allele, * TTN p.(Val33411Thrfs*32); NA not available; AVB1–3 atrioventricular blocks type 1–3, (p)L/RBBB (partial)left/right bundle branch block; LAHB left anterior hemiblock; Arrhythmias - VT for ventricular tachycardia: VT means VT episode without information on QRS-axis or morphology, VTm monomorphic VT and VTp polymorphic VT; VES for ventricular extrasystoles: VES, when no information on VES morphology is available, VESm/R means that most of the VES were monomorphic with RV origin (LBBB-morphology) and VESp when most of the VES were polymorphic; AF for atrial fibrillation; VF for ventricular fibrillation; PM pacemaker; ICD implantable cardioverter-defibrillator; CRT-D cardiac resynchronization therapy device; LVEDD left ventricular end-diastolic diameter (mm); LVEF left ventricular ejection fraction (%); ProBNP pro b-type natriuretic peptide, ** BNP b-type natriuretic peptide; Age at dg - age at diagnosis of cardiomyopathy; Phenotype - phenotype at diagnosis; DCM dilated cardiomyopathy; Other – other significant clinical features; SCD sudden cardiac death