Table 9.
Clinical findings of SVIL variant carriers.
| Patient ID | HCM-129 | HCM-130 | HCM-108 | HCM-134 | HCM-119 | HCM-138 | HCM-139 |
|---|---|---|---|---|---|---|---|
| Gender | Female | Female | Male | Male | Male | Male | Male |
| Age at onset | 29 years (postpartum period) | 27 years | 40 years | 29 years | 48 years | 24 years | 60 years |
| Initial symptoms | NA | Asthenia and dyspnea since childhood | SCV (VF) | Asthenia | A symptomatic | Asymptomatic | Syncopes during effort |
| Muscular abnormalities/deformities | Severe scoliosis with permanent bracing, muscle fasciculations | Isolated back pain | Not checked | None | Not reported by the patient/not checked | Not reported by the patient/not checked | Not reported by the patient/not checked |
| Arrhythmias | AF | NSVT | AF and VT/VF | AF | None | None | None |
| LV thickness TTE/MRI | 26/19 mm | 32/22 mm | 31/30 mm | 23/25 mm | 19/19 mm | 22/22 mm | 16/15 mm |
| Fibrosis localization on MRI | LGE intramyocardial anteroseptal and apical | Severe intramyocardial LGE Apical and on the RV (rare) | Severe intramyocardial LGE inferoseptal and lateral | Severe intramyocardial LGE Septal | LGE intramyocardial Septal and apical | LGE Not significant | LGE intramyocardial anteroseptal |
| LVEF (%) TTE/MRI | 60/30 | 50/64 | 50/63 | 70/67 | 65/70 | 75/79 | 70/74 |
| Aortic phenotype | Normal | Normal | Normal | Bicuspid aortic valve associated with dilation of Valsalva’s sinus (41 mm) and severe aortic regurgitation Aortic valve replacement |
Isolated ectasia of Valsalva’s sinus (39 mm) | Normal | Degenerative Aortic insufficiency (mild) without aortic dilatation |
| CK (0–170) | 150–200 | 100–200 | 315 | 150–900 | 95 | CPK (39–308): 79 | CPK (39–308): 161 |
| Tropo T (<14) | 29–34 | 15–21 | 32–35 | Tropo Ic US (0,000 – 0,050): 0,197 | 13 | Tropo Ic US (0,000 – 0,050): 0,023 | Tropo Ic US (0,000 – 0,050): <0,006 |
| NT-proBNP | 1,100–3,000 | 2,350 | 300–900 | BNP (0–100): 713 | 379 | BNP (0–100): 70 | BNP (0–100): 66 |
| SVIL variant | SVIL: p.(Arg215Trp) | SVIL: p.(Glu313Gly) | SVIL: p.(Glu291Lys) | SVIL: p.(Ser1414Thr) | SVIL: p.(Glu1286Lys) | SVIL: p.(Arg1870Gln) | SVIL: p.(Lys1960Arg) |
| Additional variant | None | None | FHOD3: p.(Arg638Trp) | None | TRIM63: p.(Thr262Ile) | None | None |
| Extracardiac features | Sickle cell disease; Bilateral hips prothesis; Appendicitis Osteoporosis Type-2 diabetes Hyperuricemia Arterial hypertension Tuberculosis (15 years) Non-secreting adrenal benign tumor Glaucoma |
Sleep apnea syndrome | NA | NA | NA | NA | NA |
| Neurological exam/findings | Muscular fasciculations | Mild paresthesia (nocturnal) | Normal | Not performed | Not performed | Not performed | Not performed |
AF, atrial fibrillation; CK, creatine kinase; HCM, hypertrophic cardiomyopathy; LGE, late gadolinium enhancement; LVEF, left ventricular ejection fraction; RV, right ventricular; VF, Ventricular fibrillation; VT, ventricular tachycardia; MRI, magnetic resonance imaging; NSVT, non-sustained ventricular tachycardia; NA, not available; SCD, sudden cardiac death; TTE, transthoracic echocardiography.