Case2: Full term male

DiseaseAssertion: poor feeding, respiratory distress, and cyanosis

FamilyInfo: Healthy non‐consanguineous parents. Positive for HCM on the mother's side: the maternal grandfather died from HCM at the age of 52 years, and a brother of the maternal grandfather was also affected. The parents and siblings of the patient showed no abnormalities on cardiological examination.

ParentalTesting:

CasePresentingHPOs: HP:0001714, HP:0011623, HP:0010438

CaseHPOFreeText: On cardiac catheterisation, both ventricles were found to be hypertrophic. There was mild shunting at the level of the foramen ovale. The pressures in the right ventricle and pulmonary artery were pathologically high, while the pressures in the left atrium and ventricle were normal (though with high A waves). There was a total left to right shunt of 43% of the pulmonary circulation, partly caused by a low muscular ventricular septal defect.

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

CasePreviousTesting: NR

Genotyping Method: NR

FunctionalAnalysis: NR

Variant: NM_001242672.3(TTC34):c.2827C>T (p.Arg943Trp)

ClinVar: 3329883

CAID: NR

gnomAD: 1-2573220-G-A

AdditionalInfo: NR