Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathy

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.

[1]  Eric Y. Yang,et al.  The Relationship of LVEF and Myocardial Scar to Long-Term Mortality Risk and Mode of Death in Patients with Non-Ischemic Cardiomyopathy. , 2021, Circulation.

[2]  D. Fatkin,et al.  Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene , 2020, Circulation. Heart failure.

[3]  Angharad M Roberts,et al.  Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. , 2020, Journal of the American College of Cardiology.

[4]  E. Mercuri,et al.  Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy , 2020, Neurology.

[5]  D. Garry,et al.  Emerging Therapies for Dystrophic Cardiomyopathy∗ , 2019, JACC. Basic to translational science.

[6]  Lora J. H. Bean,et al.  Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants , 2019, Genetics in Medicine.

[7]  L. Mestroni,et al.  Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. , 2019, Journal of the American College of Cardiology.

[8]  P. Elliott,et al.  Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations. , 2018, Journal of the American College of Cardiology.

[9]  F. Crea,et al.  Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine , 2018, Journal of clinical medicine.

[10]  K. Adachi,et al.  Female dystrophinopathy: Review of current literature , 2018, Neuromuscular Disorders.

[11]  M. Akaike,et al.  Detection and management of cardiomyopathy in female dystrophinopathy carriers , 2017, Journal of the Neurological Sciences.

[12]  J. Cleland,et al.  Personalizing Risk Stratification for Sudden Death in Dilated Cardiomyopathy: The Past, Present, and Future , 2017, Circulation.

[13]  A. M. Leone,et al.  A current approach to heart failure in Duchenne muscular dystrophy , 2017, Heart.

[14]  L. Politano,et al.  Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series. , 2017, Intractable & rare diseases research.

[15]  L. Calò,et al.  Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. , 2016, Journal of the American College of Cardiology.

[16]  W. Stevenson,et al.  Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. , 2016, Journal of the American College of Cardiology.

[17]  S. Heymans,et al.  Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. , 2016, European heart journal.

[18]  D. Garry,et al.  Dystrophin-Deficient Cardiomyopathy. , 2016, Journal of the American College of Cardiology.

[19]  J. Stypmann,et al.  Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study. , 2016, European heart journal cardiovascular Imaging.

[20]  B. Wong,et al.  Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging. , 2015, The American journal of cardiology.

[21]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[22]  J. Waltenberger,et al.  Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients , 2014, Journal of Cardiovascular Magnetic Resonance.

[23]  D. Hedges,et al.  Dilated cardiomyopathy: the complexity of a diverse genetic architecture , 2013, Nature Reviews Cardiology.

[24]  L. Tavazzi,et al.  Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. , 2011, Journal of the American College of Cardiology.

[25]  Craig McDonald,et al.  Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care , 2010, The Lancet Neurology.

[26]  J. Belmont,et al.  Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy , 2005, Circulation.

[27]  L. Politano,et al.  Evaluation of the cardiomyopathy in becker muscular dystrophy , 1995, Muscle & nerve.

[28]  B. Bulkley,et al.  The cardiomyopathies. , 1984, Hospital practice.