Table 1 Comparison of clinical manifestations in gene-elusive sporadic patients and those with P/LP germline variants
From: Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling
Gene-elusive sporadic patients | Those with P/LP germline variants | p-value | |
|---|---|---|---|
Number of Patients, n | 20 | 29 | |
Male, n | 12 | 16 | 0.97 |
Age at diagnosis (years) | 45 ± 12.8 | 35.8 ± 15.4 | 0.03 |
Duration of disease (years) | 7.4 ± 4.7 | 6.9 ± 3.8 | 0.34 |
BMI (kg/m2) | 19.7 ± 3.5 | 20.9 ± 2.7 | 0.67 |
Heart Rate, n | 77.4 ± 9.4 | 80.4 ± 4.7 | 0.59 |
Co-morbidities | |||
Diabetes, n | 4 | 8 | 0.79 |
Hypercholesterolemia, n | 12 | 15 | 0.78 |
Atrial Fibrillation, n | 0 | 3 | 0.38 |
NSVT, n | 2 | 6 | 0.44 |
Chest Pain, n | 6 | 11 | 0.79 |
Syncope, n | 1 | 8 | 0.06 |
NYHA class III or IV, n | 9 | 20 | 0.17 |
Medications | |||
Beta blockers, n | 13 | 19 | 0.34 |
Calcium channel blockers, n | 10 | 16 | 0.89 |
Thickness of IVS (mm) | 18.8 ± 5.3 | 21.1 ± 6.1 | 0.17 |
Maximal LV wall thickness (mm)a | 23.4 ± 6.0 | 25.7 ± 6.0 | 0.19 |
LVEF (%) | 73.5 ± 6.8 | 71.1 ± 8.1 | 0.29 |
LVEDD (mm) | 44.1 ± 6.0 | 39.9 ± 6.4 | 0.02 |
