| Cardiology Research, ISSN 1923-2829 print, 1923-2837 online, Open Access |
| Article copyright, the authors; Journal compilation copyright, Cardiol Res and Elmer Press Inc |
| Journal website https://www.cardiologyres.org |
Original Article
Volume 14, Number 5, October 2023, pages 379-386
Clinical and Genetic Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy Patients: A Single-Center Experience
Tables
| Characteristics | No. or value (%) |
|---|---|
| ACEIs/ARBs: angiotensin-converting enzyme inhibitors/angiotensin-receptor blockers; ARVC: arrhythmogenic right ventricular cardiomyopathy; ECG: electrocardiogram; EPS: electrophysiology study; ICD: implantable cardioverter-defibrillator; LVEF: left ventricular ejection fraction; MRC: mineralocorticoid receptor antagonist; MRI: magnetic resonance imaging; PVCs: premature ventricular complexes; RVEF: right ventricular ejection fraction; SCD: sudden cardiac death; SVT: supraventricular tachycardia; VF: ventricular fibrillation; VT: ventricular tachycardia. | |
| Age | 24.95 ± 13.9 years (7 to 55 years) |
| Gender | 17 males (73.91%) |
| Clinical presentation | |
| Palpitations | 14 (60.9%%) |
| Shortness of breath | 6 (26.1%) |
| Dizziness | 4 (17.4%) |
| Syncope | 10 (43.5%) |
| VT | 12 (52.2%) |
| SCD | 3 (13%) |
| Family history of SCD | 6 (26.1%) |
| Family history of ARVC | 4 (17.4%) |
| Diagnostic workup | |
| ECG | |
| Epsilon wave | 9 (39%) |
| T-wave inversion in V1-3 or beyond | 17 (73.9%) |
| Echocardiogram meeting major diagnostic criteria | 9 (39%) |
| LVEF | 52.8±6.3% (30-55%) |
| Cardiac MRI meeting major diagnostic criteria | 6/11 (54.5%) |
| RVEF | 41.3±11.4% (23-64%) |
| Medications | |
| Beta-blockers | 12 (52.2%) |
| ACEIs/ARBs | 10 (43.5%) |
| MRC | 1 (4.5%) |
| Sotalol | 8 (34.8%) |
| Flecainide | 2 (9.1%) |
| Amiodarone | 7 (30.4%) |
| ICD therapy | 17 (73.9%) |
| EPS procedures | |
| PVCs ablation | 3 (13%) |
| VT ablation | 7 (30.4%) |
| SVT ablation | 4 (17.4%) |
| Follow-up | 13.22 ± 6.83 years (2 - 25 years) |
| VT/VF on follow-up | 12/17 (70.6%) |
| Mortality | 1 (4.3%) non-cardiac cause |
| Proband | Family members with positive gene | Consanguinity | Gene | Transcript | Variant | Zygosity | ClinVar Classification | Reference |
|---|---|---|---|---|---|---|---|---|
| 1 | 5 | No | PKP2 | NM_004572.4 | c.2274delG p.Asn759Ilefs*41 | Hetero | Likely pathogenic | [14] |
| 2 | 2 | Yes | PKP2 | NM_004572.4 | c.2274delG p.Asn759Ilefs*41 | Hetero | Likely pathogenic | [14] |
| 3 | 1 | No | PKP2 | NM_004572.4 | c.2274delG p.Asn759Ilefs*41 | Hetero | Likely pathogenic | [14] |
| 4 | - | No | PKP2 | NM_004572.4 | c.2274delG p.Asn759Ilefs*41 | Hetero | Likely pathogenic | [14] |
| 5 | No | PKP2 | NM_004572.4 | c.663C>A p.Tyr 221* Stop codon | Hetero | Pathogenic | [15, 16] | |
| 6 | Yes | PKP2 | NM_004572.4 | c.663C>A p.Tyr 221* Stop codon | Hetero | Pathogenic | [7, 16-18] | |
| 7 | Yes | PKP2 | NM_004572.4 | c.663C>A p.Tyr 221* Stop codon | Hetero | Pathogenic | [6, 16-18] | |
| 8 | Yes | PKP2 | NM_004572.4 | c.663C>A p.Tyr 221* Stop codon | Hetero | Pathogenic | [7, 16-18] | |
| 9 | Yes | PKP2 | NM_004572.4 | c.663C>A p.Tyr 221* Stop codon | Hetero | Pathogenic | [7, 16-18] | |
| 10 | - | PKP2 | NM_004572.4 | c.148_151delACAG, p. T50SfsTer61 | Hetero | Pathogenic | [12, 13, 19, 20] | |
| 11 | 5 | Yes | PKP2 | NM_004572.4 | c.148_151delACAG, p. T50SfsTer61 | Hetero | Pathogenic | [12, 13, 19, 20] |
| 12 | 1 | No | PKP2 | NM_004572.4 | c. 277G>T p.Val93Phe | Hetero | Uncertain significance | [21, 22] |
| 13 | - | Yes | PKP2 | NM_004572.4 | c.1837A>T Asn 613 Tyr | Hetero | Not reported | This study |
| 14 | 2 | No | DSC2 | NM_024422.6 | c.589T>C p.Cys 197 Arg | Hetero | Not reported | This study |
| 15 | 1 | No | DSP | NM_004415.4 | c. 1067C>T p.Thr356Met | Hetero | Uncertain significance | [23, 24] |
| 16 | Yes | DSP | NC_000006.12 | c.273+5G>A | Hetero | Uncertain significance | [25, 26] |