Age-related penetrance of phospholamban p.Arg14del cardiomyopathy.

ABSTRACT:

Aims

Previous studies have shown that carriers of the pathogenic p.Arg14del variant in phospholamban (PLN) have an increased risk of mortality, heart failure and malignant ventricular arrhythmias. However, there are sparse data on the penetrance of cardiac features in these mutation carriers, and the optimal starting age and intervals of clinical follow-up remain to be defined.

Methods and results

We collected clinical data from PLN p.(Arg14del) carriers. Cardiac penetrance was defined as the presence of a major event or risk factor. A major event consisted of malignant ventricular arrhythmias or symptomatic heart failure. Risk factors were low-voltage electrocardiogram, repolarization abnormalities, frequent premature complexes, left ventricular ejection fraction <45% or ca

SUBMITTER: Verstraelen TE 

PROVIDER: S-EPMC12803612 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature