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Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathy
Author(s) -
RestrepoCordoba Maria A.,
Wahbi Karim,
Florian Anca R.,
JiménezJáimez Juan,
Politano Luisa,
Arad Michael,
ClimentPaya Vicente,
GarciaAlvarez Ana,
Hansen Rasmus B.,
LarrañagaMoreira José M.,
Kubanek Milos,
Lopes Luis R.,
Ros Andrea,
Jurcut Ruxandra,
Rasmussen Torsten B.,
RuizGuerrero Luis,
PribeWolferts Regina,
PalominoDoza Julian,
Bilinska Zofia,
RodríguezPalomares José F.,
Van Loon Rosa L.E.,
Basurte Elorz María Teresa,
Quarta Giovanni,
Robledo Iñarritu Maria,
Verdonschot Job A.J.,
Stojkovic Tanya,
Shomanova Zornitsa,
BermudezJimenez Francisco,
Palladino Alberto,
Freimark Dov,
GarcíaÁlvarez Maria I.,
Jorda Paloma,
Dominguez Fernando,
Ochoa Juan Pablo,
Girolami Francesca,
Brugada Ramon,
Meder Benjamin,
BarrialesVilla Roberto,
Mogensen Jens,
Laforêt Pascal,
Yilmaz Ali,
Elliott Perry,
GarciaPavia Pablo
Publication year - 2021
Publication title -
european journal of heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.149
H-Index - 133
eISSN - 1879-0844
pISSN - 1388-9842
DOI - 10.1002/ejhf.2250
Subject(s) - medicine , mace , myopathy , ejection fraction , cardiology , heart failure , dilated cardiomyopathy , interquartile range , penetrance , cardiomyopathy , sudden cardiac death , sudden death , percutaneous coronary intervention , myocardial infarction , phenotype , biochemistry , chemistry , gene
Aims Dilated cardiomyopathy (DCM) associated with dystrophin gene ( DMD ) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. Methods and results At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [ n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM ( n = 27; LVEF 41.3 ± 7.5%) after a median follow‐up of 96 months (interquartile range 5–311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end‐stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end‐diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow‐up. Conclusions DMD ‐associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end‐stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.