Table 1.
Patient characteristics in clinical studies on cardiac laminopathies, with data on arrhythmic profile, heart failure and stroke or thromboembolism.
| Author, year | N of Patients and genetics | Age (yrs) and gender | Follow-up | % with AF, atrial flutter or atrial standstill; AV block or conduction disorders; VT or VF | % with heart failure (NYHA ≥2) and/or LV dysfunction; HTx or end stage HF; mean LVEF | % with stroke or thromboembolism |
|---|---|---|---|---|---|---|
| Becane H.-M [47], 2000 | 54 living relatives | N/A | N/A | AF, atrial flutter or atrial standstill 7% AV block or conduction disorders 20%, VT 9% | 13%; HTx or end-stage HF 6% | N/A |
| Boriani G [4], 2003 | 18 patients with genetically confirmed X-linked (n 10, including 3 carriers) or autosomal dominant (n 8) EDMD | 42.8 ± 19.6 M 72% | ranging from 1 to 30 y | Atrial fibrillation/flutter 61% with atrial standstill occurring in 5 of 11 (45%); AV block or conduction disorders 77.7% | HF 22.2%; HTx or end-stage HF 6% | 36% |
| Sanna T [51], 2003 | 10 patients with EDMD and a LMNA gene mutation | 25.6 ± 12.1 M 90% | median of 29 m | AF, atrial flutter or atrial standstill 70%; AV block or conduction disorders 60%; VT 50% | Mean LVEF 63.3 ± 8.5 % | N/A |
| Van Berlo J.H [23], 2005 | 299 carriers of lamin A/C mutations | 31.2 M 55% | N/A | AF, atrial flutter or atrial standstill 16%; AV block or conduction disorders 45% | 26%; HTx or end-stage HF 12% | N/A |
| Meune C [52], 2006 | 19 | 41.7 ± 13.4 M 74% | 33.9 ± 21.0 m | AF, atrial flutter or atrial standstill 70%; AV block or conduction disorders 60%; VT 50% | Mean LVEF 58 ± 12 % | N/A |
| Van Tintelen J.P [43], 2007 | 61 | N/A | N/A | AF, atrial flutter or atrial standstill 16%; AV block or conduction disorders 14%; VT 2% | HTx 11.5% | 8% |
| Pasotti M [6], 2008 | 94 patients with LMNA gene mutations: 60 (64%) phenotypically affected 34 (36%) genotypically affected | Affected 40 ± 10 Healthy 23 ± 14 M 59% | median of 57 m | AF, atrial flutter or atrial standstill 25%; AV block or conduction disorders 85%; VT 13% | LVEF <35%: 35%; HTx 3% | N/A |
| van Rijsingen I.A [53], 2012 | 269 LMNA mutation + | 36 (27–45) M 55% | median of 43 m | AF, atrial flutter or atrial standstill 36%; AV block or conduction disorders 47%; Sinus node dysfunction 13%; Malignant ventricular arrhythmias 18% | LVEF <45%: 37%; Mean LVEF: 55 % (35–63) | N/A |
| Saj M [54], 2012 | 103 | 59.7 ± 11.4 M 80.5% | N/A | AF, atrial flutter or atrial standstill 100%; AV block or conduction disorders 48.5% | LVEF <40%: 6.8%; Mean LVEF 55.6 ± 9.6% | Stroke 9.7%; TIA 2.9% |
| Anselme F [55], 2013 | 47 | 38 ± 11 M 55% | median of 95 m | AF, atrial flutter or atrial standstill 26%; AV block or conduction disorders 45%; VT 66% | LVEF <45%: 13%; HTx 19% | N/A |
| Maggi L [56], 2014 | 108 patients: 78 myopathic patients LMNA+ and 30 familial cases LMNA+ without myopathy | M 48% | 7.5 ± 7 y | AF 43.5% (myopathic patients LMNA+) | 78 myopathic patients LMNA +: 47.9% DCM, 1.4% HCM, 5.6% other CMP; HTx 10.3% | N/A |
| Forleo C [57], 2015 | 20 LMNA mutation-positive subjects (n = 10) LMNA mutation-negative subjects (n = 10) | 36 ± 16 M 45% | N/A | AF, atrial flutter or atrial standstill 10%; AV block or conduction disorders 35%; VT 80% | Mean LVEF 60 ± 7 % HTx 5% |
N/A |
| Steckiewicz R [58], 2016 | 21 EDMD patients | 29 ± 9 M 76% | 11 ± 8 y | N/A | N/A | N/A |
| Olde Nordkamp L.R [59], 2016 | 4916 patients with inherited arrhythmia syndromes 162 (3.3%) with LMNA | M 50% | 33 m | AF, atrial flutter or atrial standstill 71% | N/A | N/A |
| Kumar S [60], 2016 | 25 LMNA mutation + | 55 ± 9 M 92% | median of 7 m | AF, atrial flutter or atrial standstill 12% | Mean LVEF 34 ± 12%; HTx or end stage HF 44% | N/A |
| Kumar S [24], 2016 | 122 (104 phenotypically affected) | 41 ± 14 M 57% | median of 7 y | AF, atrial flutter or atrial standstill 62%; AV block or conduction disorders 63%; VT 43% | LVEF ≤ 50%: 47%; HTx 27% | 8% |
| Ollila L. 27], 2017 | 27 LMNA mutation carriers | 48 M 48.1% | N/A | AF, atrial flutter or atrial standstill 55.6%; AV block or conduction disorders 59.3%; VT 77.8% | N/A | 14.8% overall (33.3% in cases with dilated cardiomyopathies) |
| Sedaghat-Hamedani F [44], 2017 | 95 patients with left ventricular non-compaction (68 patients and 27 affected relatives; familial LVNC = 23.5%) | NA | median of 61 m | AF, atrial flutter or atrial standstill 29.4.%; VT 35.3% | Mean LVEF 38 ± 15.3%; HTx 10.3% | Stroke/TIA 8.8% Systemic thromboembolism 10.3% |
| Nishiuchi S [62]., 2017 | 77 LMNA mutation carriers (92% phenotypically affected) | 45 ± 17 M 63.6% | median of 49 m | AF, atrial flutter or atrial standstill 58%; AV block or conduction disorders 81%; VT 26% | LVEF <50%: 45%; NYHA ≥3: 34% | N/A |
| Hasselberg N.E [61]., 2018 | 79 lamin A/C genotype + | 42 ± 16 M 54% | 7.8 ± 6.3 y | AF, atrial flutter or atrial standstill 61%; AV block or conduction disorders 65%; VT 60% |
Mean LVEF 45 ± 13%; HTx 19% | N/A |
Legend: AF: atrial fibrillation; AV: atrio-ventricular; EDMD: Emery-Dreifuss muscular dystrophy; HF: heart failure; HTx: heart transplantation; LMNA: lamin A/C; VT: ventricular tachycardia; LVEF: left ventricular ejection fraction; NYHA: New York Heart Association functional class; N/A: not available; m: months; Y: years; M: male; TIA: transient ischemic attack.