Case: proband, 2mo

DiseaseEntity: Left ventricular noncompaction (LVNC)

CasePresentingHPOs: HP:0001635 (congestive heart failure)

HPOsFreeText: required mechanical ventilation and inotropic support, depressed left ventricular function, deep left ventricle trabeculations

FamilyInfo: sibling with fetal demise at 24wks gestation due to pulmonary hypoplasia and biventricular noncompaction with deep recesses in myocardial walls of both ventricles, right ventricular dilation, and widespread fibrosis; signs of LVNC also present in 4yo sibling and father, paternal grandfather had history of arrhythmia

CaseGenotypingMethod: WES

Variant: NM_000257.4(MYH7):c.1159C>T (p.Leu387Phe)

ClinVar: 524975, https://www.ncbi.nlm.nih.gov/clinvar/variation/524975/

gnomAD: absent from gnomAD

MultipleGeneVariants:

(1) MLK2 Variant

Variant: NM_001308142.1:c.2010G>C

CAID: CA394829003, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA394829003

gnomAD: absent

(2) NKX2-5 Variant

Variant: NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)

ClinVar: 9018, https://www.ncbi.nlm.nih.gov/clinvar/variation/9018/

gnomAD: 0.0009792, https://gnomad.broadinstitute.org/variant/5-172660192-C-A?dataset=gnomad_r2_1