Genetic testing in the management of inherited cardiac disorders: two cases of Filamin-C arrhythmogenic left ventricular cardiomyopathy.

ABSTRACT:

Background

Arrhythmogenic left ventricular cardiomyopathy (ALVC) is a left ventricle-dominant arrhythmogenic cardiomyopathy (ACM) subtype often associated with malignant ventricular arrhythmias, left ventricular (LV) scar and sudden cardiac death. Awareness about LV involvement is now on the rise. The diagnosis relies on structural abnormalities on cardiac magnetic resonance (CMR) imaging and known ACM-causing genetic mutations.

Case summary

A 28-year-old lady (Case 1) was referred for cardiac screening after her father passed away suddenly. Her paternal uncle (Case 2) had been diagnosed with supposed dilated cardiomyopathy prior to referral. Both cases were worked up extensively with an electrocardiogram (ECG), 24-h ambulatory ECG monitor, exercise testing, and CMR imaging.

SUBMITTER: Abela M 

PROVIDER: S-EPMC10635578 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature