Cardiac Involvement of Female Carrier of Duchenne Muscular Dystrophy

Kamakura, Keiko

doi:10.2169/internalmedicine.39.2

Cited by 8 publications

(5 citation statements)

References 21 publications

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“…Clinical manifestations of HF (fatigue, weight loss, vomiting, abdominal pain, sleep disturbance, and inability to tolerate daily activities) are often underrecognized owing to musculo-skeletal limitations. This aspect is reported to be particularly evident in CF [ 10 ]. Connuk et al showed that although DMD and BMD patients have similar ages at the onset of CM (14.4 ± 2.3 vs. 14.6 ± 2.0 years) and have a comparable rate of cardiomyopathy at diagnosis (30% vs. 33%), the DMD group had a significantly higher mortality rate than BMD patients.…”

Section: Clinical Aspectsmentioning

confidence: 96%

Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

D’Amario

Gowran

Canonico

et al. 2018

JCM

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Duchenne’s muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

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Section: Clinical Aspectsmentioning

confidence: 96%

Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

D’Amario

Gowran

Canonico

et al. 2018

JCM

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“…Acute HF and non-sustained ventricular tachycardia have been reported as initial presentations in late adulthood, although these are not as common. Disease severity is variable and genotype–phenotype correlations are not well established in this group of patients, and cardiac involvement may be present without concomitant skeletal muscle manifestations [ 111 , 112 , 113 ]. Cardiac manifestations in female carriers may be subclinical under normal physiological conditions.…”

Section: Female Dmd Carriersmentioning

confidence: 99%

“…Elevated serum creatinine kinase (CK) is often found in patients with skeletal muscle presentations. Additionally, neurocognitive problems can present as learning disabilities or behavioral problems in this patient population [ 112 , 113 ].…”

Section: Female Dmd Carriersmentioning

confidence: 99%

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

Adorisio

Mencarelli

Cantarutti

et al. 2020

JCM

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Duchenne muscular dystrophy (DMD) cardiomyopathy (DCM) is characterized by a hypokinetic, dilated phenotype progressively increasing with age. Regular cardiac care is crucial in DMD care. Early recognition and prophylactic use of angiotensin converting enzyme inhibitors (ACEi) are the main stay therapeutic strategy to delay incidence of DMD-DCM. Pharmacological treatment to improve symptoms and left ventricle (LV) systolic function, have been widely implemented in the past years. Because of lack of DMD specific drugs, actual indications for established DCM include current treatment for heart failure (HF). This review focuses on current HF strategies to identify, characterize, and treat DMD-DCM.

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“…Cardiac symptoms are particularly prevalent in female dystrophin mutation carriers, affecting about 8% of this population with dilated cardiomyopathy (DCM) as a common presentation [ 13 , 15 , 17 ]. One review consolidated information from large studies and found that DCM was present in 7.3–16.7% of female DMD carriers and 0–13.3% of female BMD carriers [ 18 ].…”

Section: Introductionmentioning

confidence: 99%

Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies

Lim

Sheri

Nguyen

et al. 2020

Genes

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Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with progressive body-wide muscle deterioration, culminating in death as a result of cardiac or respiratory failure. A milder form of DMD exists, called Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin gene mutations. It should be emphasized that DMD and BMD are not exclusive to males, as some female dystrophin mutation carriers do present with similar symptoms, generally at reduced levels of severity. Cardiac involvement in particular is a pressing concern among manifesting females, as it may develop into serious heart failure or could predispose them to certain risks during pregnancy or daily life activities. It is known that about 8% of carriers present with dilated cardiomyopathy, though it may vary from 0% to 16.7%, depending on if the carrier is classified as having DMD or BMD. Understanding the genetic and molecular mechanisms underlying cardiac manifestations in dystrophin-deficient females is therefore of critical importance. In this article, we review available information from the literature on this subject, as well as discuss the implications of female carrier studies on the development of therapies aiming to increase dystrophin levels in the heart.

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Cardiac Involvement of Female Carrier of Duchenne Muscular Dystrophy

Cited by 8 publications

References 21 publications

Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies

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