CaseARVC-02: Male, 35 year diagnosis, Caucasian, Germany

CasePresentingHPOs: HP:0011663, HP:0001635 (Right ventricular cardiomyopathy, Heart failure)

HPOsFreeText: RVEDD at 61 mm

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Proband treated with HTx and ICD, Father died of cardiac issues, Brother has heart disease, Patient is heterozygous for MYH7 variant

CaseGenotypingMethod: Using a Cardiomyopathy gene panel of 46 genes, the proband's DNA was screened for variants. Afterwards, the variants were classified based on pathogenicity and modeled using predictive software.

Variant: NM_000257.3:c.3715A>G (p.Ile1239Val)

ClinVar: 265831 https://www.ncbi.nlm.nih.gov/clinvar/variation/265831/

gnomAD: Not in gnomAD