Table 1.
Main characteristics of our pediatric patients affected by laminopathies presenting with cardiac disease.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | |
|---|---|---|---|---|---|---|
| LMNA variant | c.673C>T (p.Arg225Ter) | c.1201C>T (p.Arg401Cys) | c.746G>A (p.Arg249Gln) | c.598A>G (p.Met200Val) (brother of patient 5) | c.598A>G (p.Met200Val) (brother of patient 4) | c.214delC (Arg72Alafs*24) |
| Inheritance | Maternally inherited (affected), mother, grandfather and great grandmother: CMP + arrhythmia | Maternally inherited (maternal line SCD) | De novo | Paternally inherited (Vous) paternal uncle: CMP (onset <1 year old), paternal grandfather: CMP | Paternally inherited (Vous) paternal uncle: CMP (onset <1 year old), paternal grandfather: CMP | Paternally inherited (affected). Father, >1 paternal uncle, grandfather: CMP. |
| First cardiac event | Aortic coarctation Bicuspid aortic valve Mitral valve cleft | Repaired VSD, post-operative RBBB | Ectopic atrial tachycardia myocarditis | Mildly dilated LV; mild hypertrabeculation of the lateral wall; dilatation of the aortic root and an ascending aorta at the higher limits of the normality | Dilated LV with preserved EF | Aortic coarctation |
| Endpoints | Paroxysmal AF Mild biventricular dysfunction S/P ICD implant (primary prevention) | VF; S/P ICD LVNC-EF 45% I degree AVB Paroxysmal AF | DCM, LBBB | – | – | Redundant mitral valve Upper normal limits LV Ascending aorta and sinotubular junction dilatation EVB, SVT |
| Age at CHD diagnosis | At birth | At birth | No CHD | No CHD | No CHD | At birth |
| Age at first manifestation of HF/rhythm disturbances | 11 years old | 9 years old | 13 years old | 11 years old | 3 years old | 17 years old |
| Neuromuscular and general phenotypic aspects | III and V fingers camptodactyly; hip asymmetry; sloping shoulders; turricephaly; short and down-slanting palpebral fissures; prominent but low-set ears; asymmetry of mandibular bite and micrognathia | Down-slanting palpebral fissures; prominent but low-set ears; asymmetry of mandibular bite; micrognathia; long neck; sloping shoulders; pectus excavatum | Normal | Mild skeletal anomalies | Mild skeletal anomalies | Short palpebral fissures; prominent ears; jaw asymmetry; he has a scoliosis; right-sided hemihypertrophy; curved vara knees |
AF, atrial fibrillation; ICD, implantable cardiac defibrillator; HF, heart failure; LVNC, left ventricular noncompaction; EF, ejection fraction; VSD, ventricular septal defect; AVB, atrium-ventricular block; RBB, right bundle-branch block; DCM, dilated cardiomyopathy; EVB, ectopic ventricular beats; SVT, supraventricular tachycardia; Vous, variant of unknown significance.