A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic.

Sophie Hespe Julia C IsbisterJohan DuflouRaj PuranikRichard Douglas BagnallChristopher SemsarianBelinda Gray Jodie Ingles

Published in: European heart journal. Case reports (2023)

tv causes a left-sided ACM phenotype with a high risk of severe cardiac outcomes including end-stage heart failure and SCD. Incomplete penetrance is observed with implications for reporting secondary genetic findings.

Keyphrases

heart failure
left ventricular
copy number
genome wide
primary care
early onset
dna methylation
emergency department
type diabetes
gene expression
adverse drug
cardiac resynchronization therapy
tertiary care
insulin resistance