Table 2.
Clinical characteristics and genetic variants identified by NGS gene sequencing in the 8 patients with final definitive diagnosis of inherited cardiomyopathy.
| Patient | Cardiomyopathy | Genetic Results | Birth Date | ECG | LVEF |
|---|---|---|---|---|---|
| 1 | NDLVC (reclassified from ACM) | FLNC c.82060_82061del (p.Tyr1042Ter) | 11 May 1975 | Abnormal | 48% |
| 2 | DCM | TTN c.82060_82061del (p.Lys27354ValfsTer7) | 23 June 1962 | Abnormal | Fluctuant |
| 3 | DCM |
TTN c.28074 + 1G > T (IVS112 + 1G > T) |
13 May 1963 | Normal | 45% |
| 4 | DCM | Negative | 10 January 1963 | Abnormal | 35% |
| 5 | HCM | Negative | 20 September 1949 | Abnormal | >55% |
| 6 | HCM | Negative | 18 December 1956 | Abnormal | >55% |
| 7 | Apical HCM | Negative | 11 July 1948 | Abnormal | >55% |
| 8 | NDLVC (reclassified from LVNC) |
Negative | 10 May 1974 | Abnormal | >55% |
LVEF: left ventricular ejection fraction; DCM: familial dilated cardiomyopathy; HCM: hypertrophic cardiomyopathy; ACM: arrhythmogenic cardiomyopathy; NDLVC, non-dilated left ventricular cardiomyopathy; LVNC: left ventricular non-compaction cardiomyopathy.