A 27-year-old man
Case#:1 Male, 27, no reported ethnicity
DiseaseAssertion: sinus tachycardia, signs of hypertrophy of both atria and ventricles
FamilyInfo: proband had a sister who died at 15 days of age due to a congenital heart disease (transposition of the great arteries). No other relative was diagnosed with cardiomyopathy of other cardiac disease before 50 years of age
ParentalTesting: family history was unremarkable. Parents were not consanguineous.
CasePresentingHPOs: HP:0001639, HP:0001644, HP:0200128, HP:0004308 "Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Ventricular arrhythmia <br /> CaseHPOFreeText: Dilated cardiomyopathy recorded at age of 4, Severe respiratory infection led to circulatory decompensation and acute femoral thrombosis"
CaseNotHPOs: none reported
CaseNotHPOFreeText: no evidence of myeloproliferative disease was found when bone marrow trepanobiopsy was preformed.
CasePreviousTesting: dcm diagnosis at age 4, Whole exome sequencing (WES)
Genotyping Method: WES, NGS, & Sanger
FunctionalAnalysis: none reported
Variant: chr11:g.47357432_47357458del, ENST00000545968.1: c.2711_2737del, p.2711_2737del
ClinVar: VCV000978729.2
gnomAD: ENSG00000134571.12