Table 5.
Phenotypes in Carriers of Pathogenic/Likely Pathogenic Variants Associated with LMNA-related Cardiomyopathy
| Carriers (N=6) | Noncarriers (N=30) | P value | |
|---|---|---|---|
| Demographics | |||
| Age, years | 59.9 ± 10.6 | 59.9 ± 9.8 | NA |
| Female | 3 (50%) | 15 (50%) | |
| Genetic ancestry | |||
| European | 3 (50%) | 15 (50%) | |
| African | 3 (50%) | 15 (50%) | |
| Imaging | |||
| Individuals with TTE or CMR | 6 (100%) | 25 (83%) | 0.6 |
| Left ventricular ejection fraction, % | 19 ± 8 | 41 ± 16 | 0.003 |
| Left ventricular end-diastolic diameter, cm | 5.7 ± 1.0 | 5.4 ± 1.1 | 0.6 |
| Left atrial diameter, cm | 4.8 ± 1.4 | 4.1 ± 0.9 | 0.4 |
| Nonischemic cardiomyopathy | 5 (83%) | 9 (30%) | 0.02 |
| Arrhythmias | |||
| Symptomatic bradyarrhythmia | 3 (50%) | 2 (7%) | 0.02 |
| Atrial fibrillation/flutter | 4 (67%) | 4 (13%) | 0.01 |
| Nonsustained ventricular tachycardia | 5 (83%) | 4 (13%) | 0.002 |
| Sustained ventricular tachycardia | 4 (67%) | 2 (7%) | 0.003 |
| Other findings | |||
| Family history of heart failure | 6 (100%) | 4 (13%) | 0.0001 |
| Syncope | 1 (17%) | 6 (20%) | 1 |
| Permanent pacemaker | 6 (100%) | 7 (23%) | 0.0009 |
| Implantable cardioverter-defibrillator | 4 (67%) | 5 (17%) | 0.02 |
| Heart transplantation | 5 (83%) | 2 (7%) | 0.0003 |
| Minimum eGFR, ml/min/1.73 m2 | 28 ± 23 | 47 ± 26 | 0.1 |
| Obstructive coronary artery disease | 1 (17%) | 16 (53%) | 0.2 |
Continuous measures are described as mean ± standard deviation and are compared using the Wilcoxon rank-sum test. Categorical variables are described as N (%) and are compared using Fisher’s exact test. P values in bold indicate p <0.05. CMR, cardiac magnetic resonance imaging; eGFR, estimated glomerular filtration rate; NA, not applicable; TTE, echocardiogram.