Table 3.
Clinical characteristics of seven probands with DCM and TTN:c.12478del
| Category | Probands with TTN:c.12478del |
|---|---|
| No of probands | 7 |
| Male sex | 5 (71%) |
| Age at diagnosis [years] | 56.4 ± 10.4 (39–73) |
| Family history of DCM | 2 (29%) |
| Family history of SCD | 0 |
| Baseline clinical evaluation | |
| NYHA III | 5 (71%) |
| Electrocardiogram | |
| AF | 2 (29%) |
| PR interval [ms] | 188.0 ± 15.9 (164–210) |
| QRS duration [ms] | 97.1 ± 10.5 (80–110) |
| Abnormal T-waves inversion | 6 (86%) |
| Low QRS voltage limb leads | 1 (14%) |
| Transthoracic echocardiography | |
| LVEF [%] | 25.7 ± 7.1 (14–38) |
| LVEF <40% | 7 (100%) |
| LVEDV [mL] | 201.3 ± 59.5 (134–315) |
| RV inflow diameter [cm] | 3.5 ± 0.5 (2.7–4.3) |
| TAPSE [cm] | 1.9 ± 0.3 (1,4-2.2) |
| Cardiac magnetic resonance imaging | |
| LGE - presence of scar | 4 (57%) |
| Biochemistry | |
| CK [μkat/L] | 2.16 ± 0.64 (1.47–3.46) |
| NT-proBNP [ng/L] | 3945 ± 2411 (488–7275) |
| Events | |
| NSVT/VT | 2 (29%) |
| aSCD | 1 (14%) |
| ICD | 3 (43%) |
| Heart transplantation | 1 (14%) |
AF; atrial fibrillation; aSCD, aborted sudden cardiac death; CK; creatine kinase; DCM; dilated cardiomyopathy; EDV, end-diastolic volume; EF, ejection fraction; ICD, implantable cardioverter defibrillator; LGE, late gadolinium enhancement; LV, left ventricle; NYHA, New York Heart Association; NSVT, non-sustained ventricular tachycardia; NT-proBNP, N-terminal prohormone of brain natriuretic peptide; RV, right ventricle; TAPSE, tricuspid annular plane systolic excursion; VT, ventricular tachycardia