Table 1.
Clinical and genetic characteristics of patients affected by EDMD and presented with heart rhythm disorders.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
| Mutation variant |
EMD NM_000117.3:c.631delC (pArg211ValfsTer26) |
EMD NM_000177.3:c.449+1G>A |
EMD NM_000117.3:c.173C>T (p.Ser58Phe) rs781797234 |
LMNA NM_170707.4:c.746G>A (p.Arg249Gln) rs59332535 |
LMNA NM_170707.3:c.305T>C (p.Leu102Pro) rs1553262 |
| Age at first cardiac manifestation | 14 y.o. | 11 y.o. (possibly earlier) |
16 y.o. | 16 y.o. | 9 y.o. |
| Heart rhythm disorders | AT, AF, AFib, PACs, AVNRT, SSNS, AVB II |
AT, PACs, SSNS | SB, AVB I, II | AFib, AF, PACs, PVCs, SAB II, AVB I, II | AT, AF, AFib, PACs, SSNS, AVB I, II |
| Inheritance | Maternal grandfather – SCD, DCM (31 y.o) Maternal cardiac examination showed no pathology |
No data | Brother had aborted cardiac arrest at 1 y.o. Maternal cardiac examination showed no pathology |
No Similar mother's DNA pathology wasn't detected |
Parents have no ECG pathology. |
| Current age | 20 y.o.* | 18 y.o.* | 28 y.o. | 22 y.o. | 15 y.o. |
| Structural and functional cardiac abnormalities | LA dilatation (z-score** 3.04) and LV EF 54% | RA dilation (z-score 2.72),* RV dilation (z-score 2.98) | No | No | No |
| Antiarrhythmic therapy | Metoprolol tartrate, Lappaconitine hydrobromide, Sotalol, Propafenone | Lappaconitine hydrobromide | No | Metoprolol tartrate | Metoprolol tartrat, Propafenone |
| Other therapy | Perindopril | Perindopril Spironolactone |
No | No | No |
| Clinical symptoms | Palpitations | Palpitations | Dizziness | Palpitations, reduced physical tolerance | Palpitations, reduced physical tolerance |
| Syncope | No | No | No | No | No |
| Neuromuscular phenotype | Not in childhood Mild myopathic changes in the upper limbs by ENMG after 18 y.o. |
No | Not in childhood elbow contractures presented at 25 y.o |
Myopathic changes since 1.5 y.o. Detected by ENMG |
elbow and ankle contractures, muscle weakness in the upper limbs since 11 y.o. |
| Pacemaker implantation | 16 y.o. | Patient's refusal | No | No | 15 y.o. |
| RFA | AVNRT (eff) AF (eff) |
Multifocus AT (no eff) | No | No | No |
| CK level | Normal | Normal | ↑CKx2 | ↑CKx7 | ↑CKx6,5 |
AT, atrial tachycardia; AF, atrial flutter; AFib, atrial fibrillation; AVB, atrioventricular block; AVNRT, atrioventricular nodal reentrant tachycardia; CK, creatine kinase; EF, ejection fraction; eff, efficiency; ENMG, electroneuromyography; LA, left atrium; LV, left ventricle; PACs, premature atrial captures; PVCs, premature ventricular contractions; RFA, radiofrequency ablation; SSNS, sick sinus node syndrome; RV, right ventricle; SAB, sinoatrial block; SB, sinus bradycardia.
z-score values were used for assessment of dilatation by echocardiography.
LV dysfunction was considered as a reduction of LV ejection fraction <55% (Simpson method).