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Article

Age-Related Penetrance of Phospholamban p.Arg14del Cardiomyopathy

22 Apr 2025

Abstract excerpt

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...

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PMID: 40264254
DOI: 10.1002/ejhf.3672

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