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Table 2 Clinical characteristics of mutation carriers

From: Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

No.* Indiv. Sex Age Age at first presentation (Diagnosis) ECG*** Echo MRI
       MWT (mm) LVEF MWT (mm) LVEF (%) Late enhancement
1 II-3§ m 56 49 (HCM) SR, CV 28 n 27 60 mid-, inferoseptal and inferior basal
  II-9 m 55 53 (HCM) AF, LBBB 30 n-↓ 33 51 massive septal, anterior, inferior
2 II-1§ m 55 55 (HCM) pxAF 24 n    
  III-1 f 30 30|| (HCM) SR 15 n    
3 SP# m 71 67 (HCM) AF 20 n-↓    
4 SP# m 48 46 (HCM) SR, CV, iLBBB 25    
5 I-2 f 85 n.a. (-) AF 11 n    
  II-2§ m 65 62 (DCM) SR, CV 15†† n 12.5 72‡‡ discrete septal (mid and basal)
  II-6 f 55 55|| (-) SR 10 n < 11 65 none
  III-2 m 38 38 (susp.) SR 14†† n < 11 62§S none
6 II-2 f 68 n.a. (HCM) SR n.a.     
  III-1§ m 39 18 (HCM) SR n.a.     
7 SP# f 52 45 (HCM) SR, CV n.a. n    
8 I-2 f 71 69|| (HCM) SR 20 n    
  II-1§ m 49 35 (HCM) SR, AVB1, pxAF 25 26 71 n.a.
9 SP# f 66 44 (HCM) SR, pxAF 24 n    
10 SP# m 54 54 (HCM) SR 22 n    
11 II-3 m 66 66|| (HCM) AF 20 n    
  II-6§ f 62 54 (HCM) SR 22 n-↓    
12 II-6 m 67 67|| (susp.) SR, LAHB 12 n    
  III-1 m 46 42|| (HCM) SR 14 n 21 54 massive intramural basal- and mid-septal
  III-3§ m 42 37 (HCM) SR 30 n    
  IV-4 f 20 20|| (HCM) SR 14 n 14 77 none
  IV-5 f 14 14|| (susp.) SR 13 n 11 66 none
13 II-1 m 54 54 (HCM) SR 13 n    
  II-6§ m 42 21 (HCM) SR 27    
14 II-2§ f 61 57 (HCM) SR 14|| n    
  II-5 m 55 55|| (HCM) SR 18 n 20 74 mid and basal septal
15 SP# m 49 49 (HCM) SR 19 n 24 62 anteroseptal basal
16 II-3§ m 66## 57 (DCM) AF n.a.## ↓↓↓##    
  II-5 m 65 34 (DCM) AF, LBBB 12 ↓↓↓    
  III-3 m 42 18 (HCM) SR 15 n 22 67 intense septal
  III-6 f 40 40|| (HCM) SR 15 n    
  III-7 f 39 39|| (HCM) SR 15 n 14.5 72 septal, inferoseptal basal
  III-9 f 44 44|| (HCM) SR, iLBBB 16 n 22 71 midseptal and inferoseptal basal
17 II-3§ m 72 n.a. (HCM) AF, RBBB 16 n    
  III-6 m 48 n.a. (HCM) SR 24 n    
  III-8 f 43 43|| (HCM) SR 10 n 13.5 65 discrete basal-septal
  III-9 m 42 42|| (HCM) SR 18 n    
  IV-2 m 17 17|| (susp.) SR 12 n    
18 II-4§ f 37 27 (HCM) SR 23 n 24 66 massive intramural basal- and mid-septal
  III-5 m 15 15|| (susp.) SR 12 n    
  1. *Number of family or single patient (SP); MWT: maximum wall thickness; Left ventricular ejection fraction (n: normal; ↓: mildly reduced, ↓↓↓: severely reduced); §Index patient; ||First presentation due to screening program; #single patient; **n.a.: not available; ††marked trabeculation; ‡‡ End diastolic volume 205 ml, EDV index 94.9 ml/m2 (reference value 47–92 ml/m2); §§ End diastolic volume 212 ml, EDV index 98.1 ml/m2; || ||4 years after transcoronary ablation of septal hypertrophy; ##heart transplantation with 58 years; ***ECG: electrocardiogram; SR: sinus rhythm; CV: status after electrical cardioversion due to atrial fibrillation; AF: atrial fibrillation; pxAF: paroxysmal AF; LBBB: left bundle branch block; iLBBB: incomplete LBBB; AVB1: first degree atrio-ventricular block; LAHB: left-anterior hemiblock; RBBB: right bundle branch block