Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy

Farah, Michel G.; Evans, E.B.; Vignos, Paul J.

doi:10.1016/0002-9343(80)90385-x

Cited by 65 publications

(28 citation statements)

References 17 publications

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“…As many as 90% of DMD patients demonstrate electrocardiogram abnormalities. 4 The heart exhibits fibrosis in the posterobasal portion of the left ventricular wall. Defects in the intra-atrial conduction system are more common than atrioventricular and infranodal disturbances.…”

Section: Mutations In the Dystrophin Gene Results In Both Duchenne Andmentioning

confidence: 99%

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Prior

Bridgeman

2005

The Journal of Molecular Diagnostics

130

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Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirdsDuchenne and Becker muscular dystrophies (DMD and BMD) are X-linked, allelic, neuromuscular diseases characterized by progressive muscular weakness and degeneration of skeletal muscle. DMD is the most common X-linked recessive lethal disease with an incidence of ϳ1 in 3500 newborns, and it has been estimated that approximately one third of the cases result from new mutations.

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Section: Mutations In the Dystrophin Gene Results In Both Duchenne Andmentioning

confidence: 99%

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Prior

Bridgeman

2005

The Journal of Molecular Diagnostics

130

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“…26 Among affected boys, 30% will have detectable cardiac abnormalities by the age of 14, and 50% by the age of 18, as will all individuals who live into their adult years. 10 The early appearance of cardiomyopathy typically has a negative influence on lifespan of Duchenne muscular dystrophy patients, as heart complications are often the cause of death. 7,26 Cardiomyopathy also occurs in other muscular dystrophies, such as limb-girdle muscular dystrophy.…”

Section: Discussionmentioning

confidence: 99%

Effects of a CRF2R agonist and exercise on mdx and wildtype skeletal muscle

Hall¹,

Kaczor²,

Hettinga³

et al. 2007

Muscle and Nerve

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Corticotrophin-releasing factor 2 receptor (CRF2R) agonists prevent muscle atrophy due to immobilization, denervation, and corticosteroid-induced muscle atrophy in wildtype mice. We hypothesized that a CRF2R agonist will increase skeletal muscle mass in mdx mice. Mdx (C57BL/10ScSn-Dmd(mdx)) and wildtype (C57BL/6) mice were divided into four groups: sedentary placebo, sedentary CRF2R agonist, exercised placebo, and exercised CRF2R agonist. Mice exercised on a treadmill twice weekly for 30 min (8-12 m/min, 8 weeks). Muscle and heart weights, serum creatine kinase, and gamma-glutamyltransferase activities were measured. The CRF2R agonist increased extensor digitorum longus and soleus muscle weights (P < 0.05) in wildtype and mdx mice. Sedentary mdx CRF2R and exercised mdx placebo mice had lower serum creatine kinase activity than sedentary mdx placebo mice. CRF2R-treated mice had decreased heart weights compared to placebo-treated mice. We conclude that CRF2R agonists should be further evaluated as a potential therapy for dystrophinopathies.

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“…Heart failure is present in 10–20% of terminal DMD patients [68]. Echocardiography may additionally reveal mitral valve prolapse in up to 100% of the DMD patients [9].…”

Section: Duchenne Muscular Dystrophymentioning

confidence: 99%

The Heart in Human Dystrophinopathies

2003

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Dystrophinopathies are due to mutations in the dystrophin gene on chromosome Xp21.1 and comprise the allelic entities Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and X-linked dilative cardiomyopathy (XLDCM). In all three entities, the heart is affected to various degrees, depending on the stage of the disease and the type of the mutation (cardiac involvement, CI). The pathoanatomic evidence of CI in dystrophinopathies is the replacement of myocardium by connective tissue or fat. In DMD/BMD, the left ventricular posterobasal and lateral walls are most extensively affected, sparing the right ventricle and the atrium. Degree and dynamics of CI vary among the three entities. In DMD/BMD, CI usually remains subclinical in the early stages of the disease. Typical initial manifestations of CI in DMD/BMD are sinus tachycardia, tall R1 in V1, prominent Q in I, aVL, V6 or in II, III, and aVF, increased QT dispersion and possibly autonomic dysfunction. Initially, echocardiography is normal or shows regional wall motion abnormalities in areas of fibrosis. With spreading of fibrosis, left ventricular dysfunction and ventricular arrhythmias additionally occur. In the final stages of the disease, systolic function may lead to heart failure and sudden death. Subclinical or clinical CI is present in about 90% of the DMD/BMD patients but is the cause of death in only 20% of the DMD and 50% of the BMD patients. XLDCM is a rapidly progressive, almost exclusively myocardial disorder, starting in teenage males as heart failure due to dilative cardiomyopathy (CMP), leading to death from intractable heart failure within 1–2 years after diagnosis. Therapy of arrhythmias and CMP in all three disorders follows the established cardiological recommendations. Due to its protective effect, ACE inhibitors are recommended already at the early stages of the disease. β-Blockers may be an additional option if indicated.

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Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy

Cited by 65 publications

References 17 publications

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Effects of a CRF2R agonist and exercise on mdx and wildtype skeletal muscle

The Heart in Human Dystrophinopathies

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