Table 1. Clinical data of ACM and HCM mutation carriers in Families A and B.
| ID | Mutated Gene | Gender | Age first visit | Age last FU | ECG | Late potentials | max LVWT, (mm) | LA (mm) | EF (%) | RV | CMR data | Symptoms | Arrhytmias | Events | Comorbidities | Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family A | ||||||||||||||||
| III-4 | DSP MYBPC3 | M | 48 | 52 | LVH | negative | 18 | 49 | 54 | Mild dilation | NP | Chest pain and dyspnea | Sporadic polymorphic PVCs. | None | Gastritis, athlete since 32 yrs | HCM |
| III-6 | DSP MYBPC3 | M | 44 | 60 | Neg inferior T waves (first), LAD and septal pseudonecrosis (last) | positive | 18 | 52 | 66 | Minor kinetic abnormalities | NP | Palpitations | Rare PVCs, Permanent AF | None | None, athlete since 40 yrs | HCM |
| III-8 | DSP MYBPC3 | F | 48 | 65 | normal | positive | 12 | 41 | 68 | Mild dilation, regional akinesia | NP | None | Frequent PVCs, persistent AF (Pharm CV) | None | Hypertension hypercholesterolemic | ACM |
| IV-4 Proband | DSP MYBPC3 | M | 19 | 36 | Neg T waves V1-V3 | positive | 10 | 33 | 60 | Mild dilation, regional akinesia | Structural and dynamic alterations of RV, spot of LGE | Chest pain | Frequent PVCs | None | None | ACM |
| IV-2 | MYBPC3 | F | 15 | 18 | LAD | negative | 11 | 27 | 56 | Normal | Septal crypts, normal LV and RV dimensions, thickness and function | None | Rare PVCs | None | None | − |
| IV-3 | DSP | M | 16 | 29 | normal | negative | 9 | 32 | 67 | Mild dilation,regionalhypokinesia | Mild RV dilation with normal function, mitral valve prolapse | None | None | None | None | Borderline ACM |
| IV-5 | MYBPC3 | M | 30 | 33 | normal | negative | 13 | 34 | 61 | normal | LV hypertrophy (14 mm) | None | None | None | None | HCM |
| III-1 | DSP | F | 25 | 35 | normal | positive | 7 | 31 | 61 | normal | NP | None | None | None | None | Borderline ACM |
| III-2 | MYBPC3 | F | 28 | 40 | normal | positive | 9 | 29 | 58 | normal | NP | None | None | None | None | − |
| IV-1 | MYBPC3 | F | 18 | 23 | normal | negative | 8 | 30 | 57 | normal | NP | None | None | None | None | − |
| Family B | ||||||||||||||||
| II-7 | CTNNA3 MYH7 | M | 50 | 57 | normal | negative | 12 | 45 | 62 | Mild dilation | NP | None | None | None | None | Borderline ACM |
| III-3 Proband | CTNNA3 | F | 15 | 32 | normal | positive | 7 | 34 | 64 | Mild dilation, regional akinesia | Mild RV dilatation and kineticalterations of RV apex | None | NSVT | None | None | ACM |
| II-1 | MYH7 | F | 69 | 77 | LVH + Repolarisation abnorm | NP | 20 | 54 | 56 | Normal | HCM (max LVWT=18 mm) with apical aneurism, septal and apical LGE | Dyspnea (NYHAclassII), palpitations | Paroxysmal AF, frequent PVCs and NSVT | Syncope in the past | Hypothyroidism, latent TB | HCM |
| II-3 | MYH7 | F | 64 | 65 | normal | NP | 19 | 42 | 64 | Normal | NP | Dyspnea | None | None | None | HCM |
| II-4 | CTNNA3 | F | 64 | 66 | normal | negative | 8 | 31 | 65 | normal | NP | None | None | None | None | Borderline ACM |
| III-2 | CTNNA3 | M | 36 | 44 | normal | positive | 9 | 38 | 60 | Mild dilation, regional akinesia | NP | None | None | None | None | ACM |
Abbreviations: AF, atrial fibrillation; CMR, cardiac magnetic resonance; ECG, electrocardiogram; EF, ejection fraction; FU, follow-up; LA, left atrium; LAD, left anterior descending; LGE, late gadolinium enhancement; LVH, Left ventricular hypertrophy; LVWT, Left Ventricular Wall Thickness; NP, not performed; NSVT, non-sustained ventricular tachycardia; NYHA class, New York Heart Association classification; Pharm CV, Pharmacological cardioversion; PVCs, premature ventricular contractions; RV, right ventricle; TB, tuberculosis.