Article
Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms.
JACC. Cardiovascular imaging - 1 May 2021
Taha Karim, Te Rijdt Wouter P, Verstraelen Tom E, Cramer Maarten J, de Boer Rudolf A, de Bruin-Bon Rianne H A C M, Bouma Berto J, Asselbergs Folkert W, Wilde Arthur A M, van den Berg Maarten P, Teske Arco J
Abstract excerpt
OBJECTIVES: This study aimed to explore echocardiographic characteristics of phospholamban (PLN) p.Arg14del mutation carriers to investigate whether structural and/or functional abnormalities could be identified before onset of symptoms. BACKGROUND: Carriers of the genetic PLN p.Arg14del mutation may develop arrhythmogenic and/or dilated cardiomyopathy. Overt disease is preceded by a pre-symptomatic phase of...
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