Case1: 49 year old male

DiseaseAssertion: LVNC

FamilyInfo: parent to child transmission affecting both sexes in ≥2 successive generations

CasePresentingHPOs: HP:0001650

"Aortic valve stenosis"

CaseHPOFreeText: bicuspid aortic valve (BAV) and mild-to-moderate aortic valvular stenosis, grade III/VI harsh crescendo-decrescendo murmur at right upper sternal border radiating to both carotids, prominent trabeculations, left ventricular apical recesses in continuation with the ventricular cavity, reduced LV systolic function with concomitant LV dilation

GenotypingMethod: next-generation sequencing using an Illumina Solexa platform for the coding regions including the splice sites of 27 genes known to be associated with familial dilated cardiomyopathy

Variant: NM_000257.4:c.1316T>G

ClinVar: 181406

CAID: CA010528

gnomAD: not found