Case III-1: Male, 11yo, proband, died at 12yo
DiseaseAssertion: Left ventricular hypertrophy
CasePresentingHPOs: HP:0002018, HP:0000969, HP:0003388, HP:0001640, HP:0002240, HP:0002240, HP:0005135, HP:0031295 (nausea, edema, fatigability, cardiomegaly, hepatomegaly, left ventricular hypertrophy, abnormal T-wave, left atrial enlargement)
CaseHPOFreeText: inability to lie down, double chambered left ventricle, protrusion of precordium, soft heart sounds, grade 3/6 systolic murmur at the cardiac apex, liver enlarged to 3cm below right costal margin, left ventricle divided into apical and basal chambers by an incomplete fibromuscular septum, basal chamber was enlarged (ball-shaped) and had end-diastolic diameter of 80.7mm, impaired contraction of of left ventricular wall and septum, reduction of left ventricular ejection fraction = 35%, diameter of communication between 2 chambers of left ventricle = 16.0mm, the apical chamber of the left ventricle had a thinning wall, relative dullness of cardiac enlargement, normal thickness of septum and left ventricular wall, upper and middle section of ventricular septum expanded to right ventricle, died due to multiple system organ failure
FamilyInfo: 8 family members with double-chambered left ventricles
CasePreviousTesting: transthoracic echocardiography, ECG, cardiac MRI
CaseGenotypingMethod: WES, Affymetrix Cytoscan 750K Array to check potential candidate copy number variations, segregation analysis using the results from Sanger sequencing
Variant: NM_000257.3:c.998A>T
CAID: CA389051586, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389051586
gnomAD: n/a