Table 1.

Characteristics of HCM Patients Participating in MedSeq who Underwent Multigene HCM Panel Testing and WGS (n=41)

Mean age (SD), y58 (12)
Female, n (%)22 (54%)
White, n (%)39 (95%)
Family history of HCM, n (%)17 (42%)
Atrial fibrillation, n (%)10 (24%)
End-stage HCM/HF death/transplant4 (10%)
Sudden cardiac arrest/death5 (12%)
Mean maximal left ventricular wall thickness, mm (SD)17.2 (4.3)
Mean left ventricular ejection fraction, % (SD)62.2 (14.6)
New York Heart Association functional class
 I21 (51%)
 II12 (29%)
 III3 (7%)
 Unknown5 (12%)
Sarcomere genes implicated by targeted HCM genetic testing18 (44%)
MYBPC3, n (%)10 (56%)
MYH7, n (%)5 (28%)
TNNI3, n (%)1 (6%)
MYL2, n (%)1 (6%)
ACTN2, n (%)1 (6%)
  • Age and maximal left ventricular wall thickness are presented as mean and SD, left ventricular ejection fraction as mean percentage and SD and categorical variables as numbers (n) and percentages. ACTN2 indicates actinin α2; HCM, hypertrophic cardiomyopathy; HF, heart failure; MYBPC3, myosin binding protein C; MYH7, cardiac β-myosin heavy chain; MYL2, myosin light chain 2; TNNI3, troponin I; and WGS, whole genome sequencing.