Table 1 Clinical features of affected males hemizygous for the EMD variant c.23C>G.
Pedigree number | Age at diagnosed cardiac disease (years) | Age at diagnosed DCM (years) | Age at last cardiac evaluation (years) | CMRI LVEDVindex (ml/m2) | TTE LVEDD (mm) | TTE EF (%) | Left atrial dimensions | TTE findings | ECG findings | Pacemaker/ICD | Heart transplant | Histopathologic findings | Neuromuscular symptoms | CK (µkat/L) | Emerin level in myocardium | Emerin level in skeletal muscle |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V:15 | 50 | 50 | 54 (heart transplant) | 64 | 19 | LA area 37 cm2 | BAD, BVD | AFl, AVBI–III, LBBB, nsVT, PVCs | CRT-P, ICD | Yes | Myocyte hypertrophy and interstitial fibrosis in explanted heart, no signs of myopathy in skeletal muscle | None | 4.1 | Reduced | Reduced | |
V:17a | 32 (AVBIII) | 38 | 39 (heart transplant) | 69 | 15 | LA area 31 cm2 | BAD, BVD | AF, AFl, AVBIII, nsVT, PVCs, SVT | DDD-R, ICD | Yes | Myocyte hypertrophy and interstitial fibrosis in explanted heart | None | 2.4 | Reduced | ||
V:24 | 29 (nsVT, PVCs) | 38 | 38 | 177 (66–101)b | 59 | 35 | LA volume 23 ml/m2 (LA area 17.7 cm2) | LAD, LVD, decreased left ventricular motility, apical akinesia | ITW, LAH, nsVT, PVCs, SB | ICD | No | No signs of myopathy in skeletal muscle | None | 1.8 | Reduced | |
IV:4 | 37 (LBBB, PVCs) | 39 | 39 (heart transplant) | 13 | LAD, LVD | AF/AFl, AVBI–III, LBBB, nsVT, PVCs | Yes | None | ||||||||
V:29 | 41 | 41 | 47 | 187 (64–99)b | 67 | 25–35 | LA volume 37 ml/m2 (LA area 24.7 cm2) | LAD, LVD, decreased left ventricular motility | AVBI, ITW, paroxysmal LBBB, nsVT, PVCs, VF, VT | DDD-ADI, ICD | No | Slight myocyte hypertrophy, slight interstitial fibrosis, increased endocardial thickness, and subendocardial fibrosis in right ventricular myocardial biopsy | None | 1.2 | Absent | |
V:31 | 36 | 36 | 36 | 180 (66–101)b | 65 | 20–30 | LA volume 47 ml/m2 | LAD, LVD | ITW, PVCs | ICD | No | None | 2.6 |
