Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases

Rio‐Pertuz, Gaspar Del; Morataya, Cristina; Parmar, Kanak; Dubay, Sarah; Argueta-Sosa, Erwin

doi:10.1186/s13023-022-02346-1

Cited by 10 publications

(5 citation statements)

References 38 publications

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“…While ACE inhibitors are used with or without beta blockers for cardiomyopathy in muscular dystrophy patients, congestive heart failure is treated with diuretics and oxygen. Nevertheless, cardiac transplantations are usually offered to DMD patients and symptomatic carriers with severe dilated cardiomyopathy [ 13 , 125 , 126 ]. Angiotensin II is involved in the fibrotic process of skeletal muscle and heart [ 127 ].…”

Section: Pharmacological Therapymentioning

confidence: 99%

“…The absence or deficiency of dystrophin due to mutations in the Dystrophin gene leads to spectrum of dystrophinopathies including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and dilated cardiomyopathy (DCM) in humans and animal models [ 12 , 13 ]. Cardiomyopathy is a common feature of DMD patients and influences the prognosis of the disease [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

“…Although DMD and BMD are the common types of dystrophinopathies in boys, isolated dilated cardiomyopathy, myalgia, cramps, rhabdomyolysis, hyperCKemia (elevated serum creatine kinase), are less common manifestations in carrier girls [22]. However, about 8-18% of carrier girls present with dilated cardiomyopathy, which could vary to certain degree depending on The absence or deficiency of dystrophin due to mutations in the Dystrophin gene leads to spectrum of dystrophinopathies including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and dilated cardiomyopathy (DCM) in humans and animal models [12,13]. Cardiomyopathy is a common feature of DMD patients and influences the prognosis of the disease [14].…”

Section: Introductionmentioning

confidence: 99%

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Advances in Dystrophinopathy Diagnosis and Therapy

Saad,

Siciliano,

Angelini

2023

Biomolecules

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Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy. However, Duchenne muscular dystrophy interconnects with bone loss and osteoporosis, which are exacerbated by glucocorticoids therapy. Procedures for diagnosing dystrophinopathies include creatine kinase assay, haplotype analysis, Southern blot analysis, immunological analysis, multiplex PCR, multiplex ligation-dependent probe amplification, Sanger DNA sequencing, and next generation DNA sequencing. Pharmacological therapy for dystrophinopathies comprises glucocorticoids (prednisone, prednisolone, and deflazacort), vamorolone, and ataluren. However, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and β-blockers are the first-line to prevent dilated cardiomyopathy in dystrophinopathy patients. Duchenne muscular dystrophy gene therapy strategies involve gene transfer, exon skipping, exon reframing, and CRISPR gene editing. Eteplirsen, an antisense-oligonucleotide drug for skipping exon 51 from the Dystrophin gene, is available on the market, which may help up to 14% of Duchenne muscular dystrophy patients. There are various FDA-approved exon skipping drugs including ExonDys-51 for exon 51, VyonDys-53 and Viltolarsen for exon 53 and AmonDys-45 for exon 45 skipping. Other antisense oligonucleotide drugs in the pipeline include casimersen for exon 45, suvodirsen for exon 51, and golodirsen for exon 53 skipping. Advances in the diagnosis and therapy of dystrophinopathies offer new perspectives for their early discovery and care.

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Section: Pharmacological Therapymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Advances in Dystrophinopathy Diagnosis and Therapy

Saad,

Siciliano,

Angelini

2023

Biomolecules

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“…These include dystrophinopathies such as Duchenne and Becker’s muscular dystrophy, and other eponymous syndromes including Barth syndrome (Hershberger et al, 2009 ; Hershberger et al, 2013 ). A raised creatinine kinase level and characteristic sub-epicardial fibrosis in the lateral wall are typical in patients with dystrophinopathies and cardiac manifestations may predate neuromuscular symptoms in Becker’s muscular dystrophy (Del Rio-Pertuz et al, 2022 ). Rare metabolic disorders, particularly inborn errors of metabolism, have also been associated with DCM (Guertl et al, 2000 ; Cox, 2007 ).…”

Section: The Genetic Architecture Of Dcmmentioning

confidence: 99%

Precision therapy in dilated cardiomyopathy: Pipedream or paradigm shift?

Javed,

Halliday

2023

Camb. prisms Precis. med.

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Precision medicine for cardiomyopathies holds great promise to improve patient outcomes costs by shifting the focus to patient-specific treatment decisions, maximising the use of therapies most likely to lead to benefit and minimising unnecessary intervention. Dilated cardiomyopathy (DCM), characterised by left ventricular dilatation and impairment, is a major cause of heart failure globally. Advances in genomic medicine have increased our understanding of the genetic architecture of DCM. Understanding the functional implications of genetic variation to reveal genotype-specific disease mechanisms is the subject of intense investigation, with advanced cardiac imaging and mutliomics approaches playing important roles. This may lead to increasing use of novel, targeted therapy. Individualised treatment and risk stratification is however made more complex by the modifying effects of common genetic variation and acquired environmental factors that help explain the variable expressivity of rare genetic variants and gene elusive disease. The next frontier must be expanding work into early disease to understand the mechanisms that drive disease expression, so that the focus can be placed on disease prevention rather than management of later symptomatic disease. Overcoming these challenges holds the key to enabling a paradigm shift in care from the management of symptomatic heart failure to prevention of disease.

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“…Classically, cardiomyopathy in BMD presents as heart failure with reduced ejection fraction, with intense fibrofatty infiltration seen as delayed enhancement on cardiac magnetic resonance imaging. This is due to sarcolemma fragility resulting from the absence of dystrophin, which is associated with elevated cellular Ca 2+ levels that cause altered cell signaling, necrosis of myofibrils, fibrosis, inflammation, and vascular dysfunction in DMD/BMD patients (Del Rio-Pertuz et al, 2022;Esposito & Carsana, 2019;McNally et al, 2023). A normal MRI suggests that the cardiomyopathy is secondary to tachyarrhythmia rather than BMD or other infiltrative diseases.…”

mentioning

confidence: 99%