Table 1.
Clinical Characteristics of Affected Family Members Based on Severity of Clinical Presentation
| Family | Pedigree | Age at Diagnosis*, years. |
Current Age or age at death† |
D230N | Sex | Clinical Features |
EF (%) |
LVIDD (cm)/(Z score)†† |
Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| NYHA > II | A | I-2 | - | 3† | NA | F | SCD | - | - | No symptoms prior to SCD. No autopsy performed. |
| A | III-3 | 13 | 13† | NA | F | NYHA IV HF Death |
- | - | Died of multi-system organ failure during heart failure hospitalization. |
|
| A | III-10 | 13 mos. | 13 mos.† |
NA | M | SCD | - | - | No symptoms prior to SCD. Autopsy notable for LV dilation. |
|
| A | IV-1 | 7 | 26 | + | M | NYHA IV Txp |
9 | 8.6 | Diagnosed during family screening and became progressively symptomatic culminating in cardiac transplantation at 18 years. |
|
| A | IV-5 | 5 mos. | 28 | + | F | NYHA IV With improvement |
27 | 4.2 (13.2) |
Severe heart failure as an infant with improvement after medical therapy (LVEF now 50%). |
|
| A | IV-7 | 6 mos. | 6 mos.† | NA | F | SCD | - | - | SCD at age 6 mos without prior symptoms. Autopsy reported LV dilation. |
|
| A | IV-8 | 5 mos. | 21 | + | F | NYHA IV With improvement |
29 | 4.5 (15.2) |
Severe heart failure as an infant with improvement after medical therapy (EF now 58%). |
|
| B | I-1 | 56 | 64 | + | F | VT | 25 | 5.9 | Presented with symptomatic VT and severe DCM which improved with medical therapy (EF now 40%). |
|
| B | II-6 | 20 | 24 | + | M | NYHA IV Txp |
<20 | - | Cardiac transplantation at age 20. | |
| B | II-7 | 9 | 12† | NA | M | NYHA IV HF Death |
- | - | Presented with DCM at 9 yrs and died of HF at 12 yrs. Also had congenital cataracts and skeletal weakness. |
|
| B | III-1 | 10 wks. | 8 | + | F | NYHA IV | 15 | 4.8 (15.6) |
Severe heart failure as an infant with improvement after medical therapy (LVEF now 46%). |
|
| NYHA ≤ II | A | II-4 | - | 71 | + | F | NYHA I | 49 | 4.6 | Asymptomatic. Mildly reduced LVEF identified after myocardial infarction at 71 years. |
| A | III-1 | 54 | 57 | + | F | NYHA I | 40 | 5.5 | Asymptomatic but LVEF declined during follow-up from 52% to 40%. |
|
| A | III-4 | 47 | 53 | + | M | NYHA II | 50 | 6.4 | Minimal exercise intolerance developed at age 48. |
|
| A | III-5 | - | 53 | + | F | NYHA I | 56 | 4.8 | Asymptomatic without evidence of LV enlargement or dysfunction. |
|
| A | III-7 | 45 | 50 | + | M | NYHA II | 50 | 5.7 | Minimal exercise intolerance developed at age 47. |
|
| A | III-12 | 40 | 44 | + | F | NYHA II | 50 | 5.6 | Palpitations and mild LV enlargement/systolic dysfunction without exercise limitation. |
|
| A | III-13 | - | 42 | + | F | NYHA I | 55 | 4.7 | Asymptomatic without evidence of LV enlargement or dysfunction. |
|
| A | IV-2 | - | 23 | + | F | NYHA I | 59 | 4.8 | Asymptomatic without evidence of LV enlargement or dysfunction. |
|
| A | IV-4 | 16 | 19 | + | F | NYHA I | 57 | 5.6 | Asymptomatic with mild left ventricular enlargement. |
|
| A | IV-11 | 22.0 | 24 | + | M | NYHA I | 40 | 5.5 | Asymptomatic but LVEF declined during follow-up from 50% to 40% |
|
| A | IV-15 | 8.0 | 11 | + | F | NYHA I | 51 | 4.2 | Asymptomatic with mildly reduced LVEF. |
|
| B | II-2 | 30 | 38 | + | M | NYHA I | 45 | 5.1 | Asymptomatic with mildly reduced LVEF. |
|
| B | II-3 | 32 | 36 | + | M | NYHA I | 35 | 6.4 | Asymptomatic but moderately reduced LVEF that declined during follow-up from 42% to 35% with concomitant 5 mm increase in LVIDD. |
|
| B | II-4 | 31 | 34 | + | F | NYHA I | 39 | 5.6 | Asymptomatic but LVEF declined after pregnancy from 48% to 39%, normalizing with medical therapy (55%). |
*
No age provided for subjects without evidence of DCM;
†
Age at Death;
††
LVIDD = LV end diastolic diameter, Z-score calculated for children less than 16 years, NA = Not available; LVEF = LV ejection fraction; SCD = sudden cardiac death, Txp = cardiac transplantation; VT = ventricular tachycardia; HF = Heart Failure