Phenotype | Gene | Frequency or mean±SD Rare variant present | Frequency or mean±SD Rare variant absent | p Value |
---|---|---|---|---|
Age at initial evaluation (years) | MYBPC3 | 45.5±14.4 | 51.0±15.5 | 8.97×10−6 |
MYH7 | 43.9±15.4 | 50.5±15.2 | 1.91×10−5 | |
Family history of HCM | MYBPC3 | 40.4% (86/213) | 21.9% (140/640) | 2.7×10−7 |
MYH7 | 47.4% (54/114) | 23.4% (173/740) | 3.06×10−7 | |
Family history of SCD | MYBPC3 | 28.7% (62/216) | 18.3% (120/656) | 0.001 |
MYH7 | 31.6% (37/117) | 19.2% (145/775) | 0.003 | |
ASH pattern | MYBPC3 | 88.0% (184/209) | 71.6% (459/641) | 3.75×10−6 |
MYH7 | 89.2% (99/111) | 73.6% (544/739) | 0.001 | |
MLVWT (mm) | MYBPC3 | 19.4±4.7 | 18.2±4.2 | 0.0005 |
MLVWT ≥30 mm | ANK2 | 12.5% (6/48) | 2% (11/553) | 0.0005 |
LV end-diastolic diameter (mm) | MYBPC3 | 44.8±5.5 | 46.3±6.0 | 0.00089 |
LV end-systolic diameter (mm) | MYBPC3 | 27.4±6.0 | 28.8±5.4 | 0.005 |
Right ventricular hypertrophy | TNNI3 | 50% (10/20) | 21.6% (174/806) | 0.004 |
SBP response to exercise (mmHg) | MYH7 | 36.6±19.9 | 50.2±24.4 | 5.49×10−6 |
Abnormal SBP response to exercise | TNNT2 | 40.9% (9/22) | 13.0% (83/640) | 0.002 |
Myectomy and/or alcohol septal ablation and/or pacemaker implantation for gradient reduction | MYBPC3 (splicing variants) | 43.1% (22/51) | 20.0% (160/799) | 3.0×10−4 |
LVOTO (>30 mm Hg) | TNNI3 | 10.0% (2/20) | 41.2% (326/792) | 0.005 |
p Values reflect the comparison for proportions or means between the group of patients with versus the group of patients without a rare variant in a given gene (p value thresholds of <0.0056 for SP genes and <0.0018 for non-SP genes).
ASH, asymmetric septal hypertrophy; SBP, systolic blood pressure; HCM, hypertrophic cardiomyopathy; LVOTO, LV outflow tract obstruction; MLVWT, maximum LV wall thickness; SCD, sudden cardiac death.