Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report)

Carvalho, Alzira Alves de Siqueira; Levy, José Antônio; Gutierrez, Paulo Sampaio; Marie, Suely Kazue Nagahashi; Sosa, Eduardo; Scanavaca, Maurício

doi:10.1590/s0004-282x2000000600023

Cited by 13 publications

(5 citation statements)

References 12 publications

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“…Ambiguous EMG signs of denervation and myopathic patterns in EDMD have been previously noted [8–10]. An EDMD patient with pure neurogenic pattern on EMG was previously described [8].…”

Section: Discussionmentioning

confidence: 99%

Co‐morbidity of Emery–Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred

Ifergane

AlSayed²,

Birk

et al. 2007

Euro J of Neurology

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Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with contractures and cardiomyopathy. In a 90 member family, we found 11 affected male individuals, three of whom displayed areflexia and neurogenic electromyographic changes. Muscle biopsy performed in one case demonstrated type grouping suggestive of a neurogenic disorder. These three individuals and another family member, who suffers from mild, static limb weakness but is clinically and genetically unaffected by EDMD showed an abnormal incremental response of over 100% to tetanic stimulation. In contrast, one affected family member showed myopathic features on needle electromyography and no definite pathology in repetitive stimulation studies. The diagnosis of EDMD was established by demonstrating a 1712_1713insTGGGC mutation in the emerin gene. This family apparently expresses co-morbidity of EDMD with an exceptionally mild form of pre-synaptic congenital myasthenic syndrome resembling the Lambert-Eaton myasthenic syndrome (LEMS). The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients.

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“…Ambiguous EMG signs of denervation and myopathic patterns in EDMD have been previously noted [8–10]. An EDMD patient with pure neurogenic pattern on EMG was previously described [8].…”

Section: Discussionmentioning

confidence: 99%

Co‐morbidity of Emery–Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred

Ifergane

AlSayed²,

Birk

et al. 2007

Euro J of Neurology

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“…The histopathological appearances of the heart in X‐linked Emery‐Dreifuss muscular dystrophy (EDMD) mirror those of ARVC. There is myocardial atrophy with fibrofatty replacement, with preponderance for the right heart; however, the prominent atrial involvement is peculiar to EDMD 55,56 . Female carriers may develop cardiac disease without skeletal myopathy 52 .…”

Section: Beyond the Desmosomal Modelmentioning

confidence: 99%

“…There is myocardial atrophy with fibrofatty replacement, with preponderance for the right heart; however, the prominent atrial involvement is peculiar to EDMD. 55,56 Female carriers may develop cardiac disease without skeletal myopathy. 52 The disease-causing gene at Xq28 encodes emerin, 57 which localizes to the inner nuclear membrane, desmosomes, and adherens junctions.…”

Section: Beyond the Desmosomal Modelmentioning

confidence: 99%

Genetics of Right Ventricular Cardiomyopathy

Sen‐Chowdhry

Syrris

McKenna

2005

Cardiovasc electrophysiol

168

144

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. However, variants of ARVC that preferentially affect the left ventricle are increasingly recognized. ARVC is distinguished from dilated cardiomyopathy by a propensity toward ventricular arrhythmia and sudden death in the absence of significant ventricular dysfunction. In the majority of families, ARVC shows autosomal dominant inheritance with incomplete penetrance. Recessive forms are also described, often in association with cutaneous disorders. Causative mutations have so far been identified in plakoglobin, desmoplakin, and plakophilin, all of which encode key components of the desmosome. Desmosomes are protein complexes that anchor intermediate filaments to the cytoplasmic membrane in adjoining cells, thereby forming a three-dimensional scaffolding that provides tissues with mechanical strength. Unraveling of the genetic etiology of ARVC has elicited a new model for pathogenesis. Impaired functioning of cell adhesion junctions during exposure to shear stress may lead to myocyte detachment and death, accompanied by inflammation and fibrofatty repair. At least three mechanisms contribute to the arrhythmic substrate: bouts of myocarditis, fibrous and adipose infiltrates that facilitate macroreentry, and gap junction remodeling secondary to altered mechanical coupling. The latter may underlie arrhythmogenicity in early disease. Although ARVC can be considered a disease of the desmosome, a variety of other genetic defects give rise to phenocopies, which may ultimately enhance our understanding of the broad phenotypic spectrum.

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“…Blagova and colleagues 11 have described a case of atrial flutter ablation in an EDMD patient, which was initially successful, but eventually the patient had a recurrence within 4 months, compli-cated with worsening LV systolic function ultimately necessitating a heart transplant. Carvalho and colleagues 12 have reported a case involving an EDMD patient with recurrent supraventricular tachycardia with multiple catheter ablations and pacemaker placement after AV nodal ablation, which progressed to further episodes of ventricular tachycardia and death from irrecoverable asystole. To the best of our knowledge, our experience is the first reported catheter ablation with favorable long-term clinical outcome in a patient with EDMD.…”

Section: Discussionmentioning

confidence: 99%

Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report)

Cited by 13 publications

References 12 publications

Co‐morbidity of Emery–Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred

Co‐morbidity of Emery–Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred

Genetics of Right Ventricular Cardiomyopathy

Atrial arrhythmias in Emery-Dreifuss muscular dystrophy: Approach to successful ablation

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