Clinical, biochemical, and molecular characteristics of the 40 examined subjects from the three families A, B, and C
| Sex/age | ECG abnormalities | Echo IVS (cm) | Echo PW (cm) | Echo LVD (cm) | Echo LVEF (%) | Echo IVS hypertrophy | Hypo Mg | Pes cavus | mtDNA (%) | βMHC mutation | Other cardiovascular or extracardiac abnormalities | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Blood | Heart | Muscle | |||||||||||||||||||||||
| Family A | |||||||||||||||||||||||||
| III-5 | M/70 | RBBB-LVH | 1.3 | 1.3 | 3.8 | 65 | Diffuse | − | − | 65 | − | Hypertension, COPD | |||||||||||||
| III-9 | F/55 | – | 1.1 | 1.1 | 5.2 | 60 | / | + | − | 70 | − | – | |||||||||||||
| III-11 | M/67 | LVH | 1.4 | 1.1 | 4.7 | 75 | Mid-septum | + | ≠ | 88 | + | Stroke | |||||||||||||
| III-14 | M/62 | – | 1.1 | 1.0 | 4.4 | 65 | / | − | − | 58 | − | – | |||||||||||||
| IV-1 | M/46 | LVH | 1.5 | 0.9 | 7.3 | 40 | Mid-apical septum | + | + | 90 | 95 | 82 | + | – | |||||||||||
| IV-3 | M/45 | – | 1.1 | 1.0 | 5.3 | 65 | / | + | + | 70 | − | – | |||||||||||||
| IV-5 | M/42 | LVH | 1.6 | 1.3 | 4.9 | 45 | Mid-apical septum | + | + | 92 | + | – | |||||||||||||
| IV-7 | F/39 | −ve T waves V1–V3 | 0.9 | 0.8 | 4.9 | 55 | / | + | − | 70 | + | Kidney malformation* Transient amaurosis | |||||||||||||
| IV-9 | M/44 | LVH | 1.8 | 1.7 | 8.1 | 22 | Diffuse | ≠≠ | − | 95 | 98 | 85 | + | Late renal failure post-HT | |||||||||||
| IV-11 | F/36 | IRBBB | 0.9 | 0.8 | 4.2 | 60 | / | + | − | 65 | − | – | |||||||||||||
| IV-13 | M/36 | – | 1.1 | 1.0 | 5.2 | 65 | / | + | − | 50 | − | – | |||||||||||||
| IV-15 | F/31 | – | 0.9 | 0.8 | 4.1 | 60 | / | − | − | 55 | − | – | |||||||||||||
| IV-18 | M/58 | LVH | 1.3 | 1.1 | 4.9 | 65 | Basal septum | + | + | 62 | + | Prior non-Q wave MI | |||||||||||||
| IV-19 | M/56 | – | 1.3 | 1.1 | 4.3 | 65 | Mid-basal septum | + | + | 65 | + | Gout | |||||||||||||
| IV-20 | M/50 | LVH | 1.3 | 1.0 | 4.0 | 60 | Mid-septum | + | + | 60 | + | Mild hypertension | |||||||||||||
| V-1 | M/18 | IRBBB | 1.1 | 1.0 | 4.4 | 60 | / | − | − | / | − | – | |||||||||||||
| V-2 | F/14 | – | 0.9 | 0.9 | 4.4 | 60 | / | − | − | / | − | – | |||||||||||||
| V-3 | M/15 | – | 0.8 | 0.8 | 4.8 | 60 | / | − | − | / | − | – | |||||||||||||
| V-4 | M/15 | – | 0.8 | 0.8 | 4.5 | 55 | / | − | − | / | − | – | |||||||||||||
| V-5 | M/13 | – | 0.8 | 0.8 | 4.5 | 60 | / | − | − | / | + | Bilateral pes contortus | |||||||||||||
| V-6 | F/25 | – | 0.9 | 0.7 | 5.0 | 65 | / | + | − | 78 | − | – | |||||||||||||
| V-7 | M/17 | – | 1.1 | 1.1 | 4.5 | 60 | / | − | − | 70 | + | – | |||||||||||||
| V-8 | M/15 | – | 1.0 | 1.0 | 4.6 | 65 | / | − | − | 75 | − | – | |||||||||||||
| V-10 | F/12 | – | 0.9 | 0.8 | 4.0 | 60 | / | − | − | / | − | – | |||||||||||||
| V-11 | M/18 | – | 1.1 | 1.1 | 5.3 | 60 | / | + | − | 65 | − | Left renal cyst | |||||||||||||
| V-12 | F/10 | – | 0.9 | 0.8 | 4.0 | 65 | / | + | − | 70 | − | – | |||||||||||||
| Family B | |||||||||||||||||||||||||
| II-1 | M/57 | – | 0.7 | 0.9 | 5.3 | 63 | / | − | − | – | − | – | |||||||||||||
| II-2 | F/54 | – | 0.9 | 0.9 | 4.4 | 60 | / | − | − | 75 | − | – | |||||||||||||
| II-3 | F/51 | – | 0.9 | 0.1 | 5.0 | 56 | / | − | − | 70 | − | Mild mitral valve prolapse | |||||||||||||
| II-5 | F/58 | – | 0.75 | 0.75 | 4.0 | 52 | / | − | − | 68 | − | – | |||||||||||||
| II-7 | F/42 | – | 0.75 | 0.85 | 4.5 | 55 | / | − | − | 73 | − | – | |||||||||||||
| III-1 | M31 | LVH | 1.3 | 1.4 | 7.8 | 20 | Diffuse | − | − | 76 | 95 | 85 | + | – | |||||||||||
| III-2 | F/21 | – | 0.9 | 0.8 | 4.8 | 48 | / | − | − | 82 | − | – | |||||||||||||
| III-3 | F30 | – | 1.05 | 1.05 | 4.5 | 61 | / | − | − | 72 | − | – | |||||||||||||
| III-4 | M/31 | – | 0.8 | 1 | 5.1 | 60 | / | − | − | 80 | − | – | |||||||||||||
| III-5 | F/16 | – | 0.9 | 0.75 | 4.3 | 58 | / | − | − | 78 | − | – | |||||||||||||
| III-6 | M/48 | – | 1.15 | 1.1 | 4.8 | 70 | / | − | − | 70 | − | – | |||||||||||||
| Family C | |||||||||||||||||||||||||
| II-2 | F/55 | AVB III/PM | 1.0 | 0.7 | 3.8 | 20 | Diffuse septal | − | − | 45 | 64 | 70 | + | Height 145 cm, weight 40 kg | |||||||||||
| III-1 | M/31 | AVB III/PM | 1.0 | 0.8 | 6.0 | 15 | Mid-septum | − | − | 48 | 92 | 82 | + | Height 174 cm, weight 63 kg | |||||||||||
| IV-1 | F/9 | LVH | 2.2 | 0.7 | 3.1 | Septal diffuse | − | − | – | – | – | + | Height 135 cm, weight 38 kg | ||||||||||||
≠ Not evaluated because of previous stroke; ≠≠ Not evaluated because of renal failure; *Right renal hypoplasia, double pelvis.
IVS, interventricular septum; PW, posterior wall; LVD, left ventricular diameter; LVEF, left ventricular ejection fraction; Hypo Mg, hypomagnesaemia; RBBB, right bundle branch block; LVH, left ventricular hypertrophy (S in V1 and in V5 > 35 mm); IRBBB, incomplete right bundle branch block; COPD, chronic obstructive pulmonary disease; HT, heart transplantation; M, myocardial infarction; AVB atrioventricular block; PM, pacemaker.