Table 2.
Clinical Phenotype of JPH2 Genotype Positive Patients with HCM
Case | Mutation | Age (y) Sex | Age at Dx (y) | Race | Symptoms at Presentation | Subsequent symptoms | AF | Max LVWT (mm) | Resting LVOTO (mmHg) | FH of HCM | FH of SCD | Treatment |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | S101R | 40/M | 27 | C | Dyspnea | Dyspnea | No | 22 | 0 | Yes | No | ICD |
2 | Y141H | 33/M | 24 | C | Dyspnea, palpitations, angina, non-Q-wave MI | Dyspnea, palpitations | No | 38 | 25 | No | No | Pacemaker ICD |
3 | S165F | 58/F | 30 | C | Dyspnea, SBE | Dyspnea | No | 18 | 36 | No | No | Myectomy |
HCM, hypertrophic cardiomyopathy; Dx, diagnosis; C, Caucasian; SBE, subacute bacterial endocarditis; AF, atrial fibrillation; LVWT, left ventricular wall thickness; LVOTO, left ventricular outflow tract obstruction; FH, family history; SCD, sudden cardiac death; ICD, implantable cardioverter-defibrillator.