Authors
K Taha, WP Te Rijdt, HACM De Bruin-Bon, MJM Cramer, FW Asselbergs, BJ Bouma, MP Van Den Berg, AJ Teske
Publication date
2020/1/1
Journal
European Heart Journal-Cardiovascular Imaging
Volume
21
Issue
Supplement_1
Pages
jez319. 633
Publisher
Oxford University Press
Description
Funding Acknowledgements
PLN Genetic Heart Disease Foundation
Background
Carriers of the phospholamban (PLN) R14del founder mutation may develop an arrhythmogenic and/or dilated cardiomyopathy. Overt disease is preceded by a pre-symptomatic phase of variable length in which structural abnormalities seem to be absent.
Purpose
We aimed to explore echocardiographic characteristics of PLN R14del mutation carriers, particularly in early disease stages.
Methods
We included 120 PLN R14del mutation carriers and classified them to the pre-symptomatic stage (no symptoms and no structural disease, n = 60), the arrhythmic stage (arrhythmic symptoms and left ventricular ejection fraction (LVEF) ≥50%, n = 30) or the structural stage (LVEF <50%, n = 30). We included 60 healthy control subjects who were age- and …
Scholar articles
K Taha, WP Te Rijdt, H De Bruin-Bon, MJM Cramer… - European Heart Journal-Cardiovascular Imaging, 2020