Case1: 12 year old boy

DiseaseAssertion: hypertrophic cardiomyopathy

FamilyInfo: parents were clinically normal, and there was no family history of HCM

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: Chest radiography showed protrusion of left third and fourth arches and the cardio-thoracic ratio was 0.50. Two-dimensional echocardiogram showed asymmetrical hypertrophy of the LV. Laboratory examinations showed elevated serum levels of brain natriuretic peptide. Cardiovascular magnetic resonance imaging revealed a markedly thickened IVS and decreased wall motion.

GenotypingMethod: DNA samples were extracted from the peripheral blood ofthe patient and his parents for use as templates to identify mutations in the genes for sarcomeric proteins. All PCR products were analysed for sequence variations by direct DNA sequencing of both strands. Direct sequencing of coding exons of MYH7.

Variant: NM_000257.4:c.2459C>A

ClinVar: 657112

CAID: CA389048368

gnomAD: not found