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