Table 1.
Phenotype Characteristics of DCM-Affected Individuals and FLNC-Variant Carriers in Families TSFDC029, TSFDC031, and DNFDC057
| Individual |
Age at Enrollment, yrs |
Sex |
Symptoms |
Arrhythmias |
ECG |
NYHA |
LVEF (%) |
LVEDD (cm) |
FS (%) |
CK |
Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|
| TSFDC029 | |||||||||||
| II:2 | 62 | F | Palpitations | SVT, PVC (800/24 h), NSVT | PVC | I | 52 | 5.4; infero-basal hypokinesis | 24 | 56 | 77 yo, NYHA I, LVEF 51% |
| III:4 | 46 | F | Palpitations, SOB, chest pain |
PVC (900/24 h), NSVT | Low voltages | II | 32 | 5.5 | 20 | 32 | 59 yo, NYHA II noncardiac death |
| III:6∗ | 35 | M | Asymptomatic | — | — | I | — | — | — | — | 34 yo, SD, cardiomegaly |
| III:7 | 34 | F | Palpitations | No | Normal | I | 63 | 4.9 | 31 | 50 | — |
| IV:1 | 27 | M | Fatigue, palpitations | PAC, PVC (93/24 h) | RBBB | II | 45 | 5.3 | 26 | 80 | 41 yo, NYHA I, palpitations LVEF 52% |
| TSFDC031 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| II:2 | 44 | M | SOB | 154/24 h, couplet, NSVT | Normal | II | 47 | 5.7 | 17 | 103 | 48 yo, NYHA II SD |
| III:1 | 20 | M | Pre-syncope | PAFib, SVT, SAECG | Normal | I | 45 | 55, infero-basal hypokinesis | 23 | 70 | 36 yo, NYHA I, palpitations, LVEF 40% |
| DNFDC057 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| II:1 | 53 | F | Palpitations, SOB | pVT (1997) Afib | LVH | II | 10 | 5.6 | — | 106 | OHT |
| II:2 | 59 | M | DOE, fatigue | PVC | AVB1, inc. LBBB | III | 45 | 6.4 | 24 | 118 | LVEF 21% |
Dashes indicate unavailable data.
AF = atrial fibrillation; AVB = atrioventricular block; CK = creatine kinase; DCM = dilated cardiomyopathy; DOE = dyspnea on exertion; ECG = electrocardiogram; FLNC = filamin C; FS = fractional shortening; inc. = increase; LBBB = left bundle branch block; LVEDD = left ventricular end-diastolic dimension; LVEF = left ventricular ejection fraction; LVH = left ventricular hypertrophy; NSVT = nonsustained ventricular tachycardia; NYHA = New York Heart Association functional class; OHT = orthotopic heart transplant; PAC = premature atrial contractions; PAF = paroxysmal atrial fibrillation; PVC = premature ventricular contractions; pVT = polymorphic sustained ventricular tachycardia; RBBB = right bundle branch block; SAECG = signal-averaged electrocardiography; SD = sudden unexpected death; SOB = shortness of breath; SVT = supraventricular tachycardia; yo = years old.
Individual III-6 died before enrollment; deoxyribonucleic acid was not available for genetic testing.