Clinical profile associated with previous reported ACTC mutations
| Mutation | Carriers of mutations | Patients | ||||
|---|---|---|---|---|---|---|
| Phenotype positive | Symptomatic | Abnormal electrocardiogram | Ventricular arrhythmia | Abnormal echocardiogram | ||
| * Episodes of non-sustained ventricular tachycardia accompanied by syncope. † ventricular fibrillation and cardiac arrest. ‡ one with ventricular fibrillation and cardiac arrest and one with ventricular tachycardia. ** Seven with wall hypertrophy and two with end stage dilation. †† Septal and apical hypertrophy. ‡‡ Five with predominant apical hypertrophy and one with septal hypertrophy. | ||||||
| Ala295Ser3 | 14 | 13 | 3 | 13 | 1* | 9** |
| Pro164Ala20 | 1 | 1 | 1 | 1 | 1† | 1†† |
| Ala331Pro20 | 1 | 1 | 1 | 1 | 0 | 1†† |
| Glu99Lys20 | 7 | 6 | 6 | 7 | 2‡ | 6‡‡ |