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Table 2 Reports about left ventricular noncompaction/hypertrabeculation with atrial septal defect

From: Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

Ref. Age/sex Additional cardiac findings Extracardiac comorbidity Follow-up Genetic findings
[2] 39y/f Eb, heart failure, EF <55 NI NI MYH7 mutation
[9] 16y/m Right pulmonary vein aplasia, left-sided pulmonary vein obstruction Right lung hypoplasia Balloon dilatation, interventional ASD closure NI
[10] NI/m AV-block I, syncope NI NI NKX2.5 mutation
[11] 23y/m VSD NI NI NI
[3] Birth/f VSD Agenesis of corpus callosum, facial dysmorphism, febrile seizures Alive at 3 years, delayed psychomotor development Interstitial 1q43 deletion
[5] 16y/m None NI NI E101K ACTC mutation
[5] 62y/m None NI NI E101K ACTC mutation
[6] 1 m/m None Hypotonia, developmental delay, nystagmus, strabismus, failure to thrive NI MMACHC mutation
[7] 5d/m EF <55, PDA, Eb NI Alive NI
[7] 1d/f None Ni Alive NI
[7] 6 m/m Ectopic atrial rhythm, VSD NI Alive NI
[7] 5y/f WPW, Eb NI Alive NI
[7] 6 m/f EF <55, VSD, SAS, Coa NI Dead NI
[7] 2 m/m VSD NI Alive NI
[7] 1 m/f SVT, VT, VSD, PDA, DILV NI Alive NI
[7] Birth/f EF <55, PDA NI Dead NI
[7] 1d/f VSD, PDA, BAV, LSVC NI Alive NI
[7] 9 m/f EF <55, VSD NI Dead NI
[7] 2d/m EF <55, VSD NI Dead NI
[7] 3 m/m VSD NI Alive NI
[7] 6d/m EF <55 NI Alive NI
[7] 9 m/m VSD NI Alive NI
[7] 7d/f EF <55 NI Alive NI
[7] 1 m/m EF <55 NI Alive NI
[8] Birth/f Sinusbradycardia, pulmonary valve atresia BLI, ACV, abdominal situs ambiguous, polysplenia Dead Linkage to 6p24.3-21.2
[8] 22y/m Sinusbradycardia, AF BLI, ACV Alive Linkage to 6p24.3-21.2
[8] 32y/f Pulmonary valve stenosis, sick sinus syndrome ACV, polysplenia, malrotation of the gut Alive Linkage to 6p24.3-21.2
[8] 59y/m AF, heart failure, EF <55 Polysplenia Died suddenly Linkage to 6p24.3-21.2
  1. NI, not indicated; EF, <55 left ventricular ejection fraction <55 %; PDA, patent ductus arteriosus; Eb, Ebstein anomaly of the tricuspid valve; VSD, ventricular septal defect; WPW, Wolff-Parkinson-White; SAS, subaortic stenosis; Coa, coarctation of the aorta; SVT, supraventricular tachycardia; VT, ventricular tachycardia; DILV, double-inlet left ventricle; BAV, bicuspid aortic valve; LSVC, left-sided superior vena cava; ACV, azygous continuation of the vena cava inferior; AF, atrial fibrillation; BLI, bronchial left isomerism.