Cardiac involvement in a female carrier of Duchenne muscular dystrophy

Walcher, Thomas; Kunze, Markus; Steinbach, Peter; Sperfeld, Anne‐Dorte; Burgstahler, Christof; Hombach, Vinzenz; Torzewski, Jan

doi:10.1016/j.ijcard.2008.06.084

Cited by 28 publications

(21 citation statements)

References 8 publications

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“…However, heart transplantation or implantation of a prophylactic implantable cardioverter/defibrillator was required in some cases 7 17. In the present study, one carrier with extensive LGE in the subepicardial and midwall layers died suddenly, despite medical treatment.…”

Section: Discussionmentioning

confidence: 60%

Diagnostic utility of cardiac magnetic resonance for detection of cardiac involvement in female carriers of Duchenne muscular dystrophy

et al. 2010

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Section: Discussionmentioning

confidence: 60%

Diagnostic utility of cardiac magnetic resonance for detection of cardiac involvement in female carriers of Duchenne muscular dystrophy

et al. 2010

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“…CMR is the gold standard to evaluate the presence and location of fibrosis in DMD affected patients [26] and may be performed even in otherwise normal DMDc cardiac phenotype. Myocardial LGE is considered a form of in vivo histologic assessment [27] and although limited to brief reports, is increasingly being studied in DMDc, aimed at looking to early signs of cardiac involvement and monitoring disease progression [28,29]. LGE presence in DMDc without LV dysfunction, might be a focal sign of heart involvement either isolated or representing the cardiac evolution of skeletal muscle disease.…”

Section: Discussionmentioning

confidence: 99%

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers

Giglio

Puddu

Camastra³

et al. 2014

Journal of Cardiovascular Magnetic Resonance

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BackgroundThis study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of LV dysfunction and whether this cardiac phenotype may be related to genotype. The null hypothesis was that myocardial fibrosis, assessed by late gadolinium enhancement (LGE), might be similarly accounted for in DMDc and gender and age-matched controls.MethodsThirty DMDc patients had CMR and genotyping with 37 gender and age-matched controls. Systolic and diastolic LV function was assessed by 2D-echocardiography.ResultsAbsolute and percent LGE were higher in muscular symptomatic (sym) than asymptomatic (asy) DMDc (1.77 ± 0.27 vs 0.76 ± 0.17 ml; F = 19.6, p < 0.0001 and 1.86 ± 0.26% vs 0.68 ± 0.17%, F = 22.1, p < 0.0001, respectively). There was no correlation between LGE and age. LGE was seen most frequently in segments 5 and 6; segment 5 was involved in all asy-DMDc. Subepicardial LGE predominated, compared to the mid-myocardial one (11 out of 14 DMDc). LGE was absent in the subendocardium. No correlations were seen between genotyping (type of mutation, gene region and protein domain), confined to the exon’s study, and cardiac phenotype.ConclusionsA typical myocardial LGE-pattern location (LV segments 5 and 6) was a common finding in DMDc. LGE was more frequently subepicardial plus midmyocardial in sym-DMDc, with normal LV systolic and diastolic function. No genotype-phenothype correlation was found.

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“…22) Some manifesting carriers only present myalgia or cramps without limb weakness. 23) In addition, unusual cases such as isolated cardiomyopathy without skeletal muscle weakness [24][25][26] and developmental delay in childhood have been reported. 23) Also, there have been reports of manifesting carriers of DMD who initially presented with camptocormia which is forward flexion of the thoracolumbar spine that abates in the supine position.…”

Section: Clinical Presentation Of Female Carrier Of Dmdmentioning

confidence: 99%

Female Carriers of Duchenne Muscular Dystrophy

Cho

Choi

2013

J Genet Med

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males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers.1, 2, 4) Therefore, here we reviewed recent studies to meet the need for a better understanding about the characterization of female carriers of DMD. What is dystrophinopathies?Duchenne's description of DMD was published in 1861. He referred to the disease as "hypertrophic paraplegia of infancy due to a cerebral cause". IntroductionDuchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy. The milder form of this disease is called Becker muscular dystrophy(BMD).1) The disorder is also called dystrophinopathy because it caused by mutations in the DMD gene, which encodes dystrophin, on Xp21.2) Most heterozygous female carriers of DMD are subclinical. Therefore, identification of dystrophinopathy carriers may be only con sidered on clinical grounds such as clear X-linked family history of muscular dystrophy. However, myopathic muscle biopsy and advanced molecular diagnostic analysis can be used to identify the carrier state of DMD without a positive family history of dystrophinopathy , which is present in 10% of women with hyperCKemia.3) In addition, two-thirds of mothers of affected www.e-kjgm.org Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

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Cardiac involvement in a female carrier of Duchenne muscular dystrophy

Cited by 28 publications

References 8 publications

Diagnostic utility of cardiac magnetic resonance for detection of cardiac involvement in female carriers of Duchenne muscular dystrophy

Diagnostic utility of cardiac magnetic resonance for detection of cardiac involvement in female carriers of Duchenne muscular dystrophy

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers

Female Carriers of Duchenne Muscular Dystrophy

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