Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report
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Abstract:
Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults. We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis. This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.Keywords:
Genetic disorder
A family of Becker's muscular dystrophy with marked cardiomyopathy was studied. The propositus, a 16-year-old boy with marked pseudohypertrophy in calves, showed electrocardiographic abnormalities resembling those in the Duchenne's type. Radionuclide study and endomyocardial biopsy revealed remarkable degeneration of myocardium. His uncle, who also had slight proximal muscular atrophy and weakness, and calves' pseudohypertrophy, died of heart failure at the age of 47, and autopsy showed dystrophic changes in skeletal muscles and extensive myocardial damage. Severe cardiac involvement can occur in Becker's muscular dystrophy which has been known to have an essentially benign clinical course, and radionuclide investigation is useful for the detection of preclinical cardiac lesions in patients with muscular dystrophy.
Progressive muscular atrophy
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Genetic diagnosis
Genetic disorder
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Genetic testing is often regarded as a laboratory procedure in a molecular genetic laboratory. However, for practical use in health care, this definition is too narrow. In the majority of cases, the clinician is not using a genetic test for diagnostic purposes, but confirming or excluding a clinical suspicion of an underlying disorder of presumed genetic background. As an example, a confirmatory test could be requested by a pediatrician, who—after investigating an unhealthy child physically and with non-genetic tests—has the suspicion that the child has cystic fibrosis (CF) and orders a cystic fibrosis transmembrane conductance regulator (CFTR) mutation-scan. If mutations are found, the diagnosis is confirmed. Furthermore, the specific mutations detected may give prognostic information about the child's future health. The doctor will also have information that can be used for family investigations, and possibly for prenatal diagnosis. However, if only one or no mutations are found, this does not exclude the possibility that the child has CF. The test used may not detect all mutations, or the gene may have been silenced by other reasons—e.g., altering the regulation of the gene. An example of exclusion testing is a patient presenting with neurological symptoms, leading to a suspicion of Huntington's disease. A genetic test revealing a normal set of trinucleotide repeats in the IT-15 gene will indicate that the symptoms are not caused by this disorder. In genetic testing, the information given to the patients and their families must be an integral part of the process.
Predictive testing
Genetic disorder
Carrier testing
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Medical Therapy
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Abstract To evaluate the features and the course of cardiomyopathy in Becker muscular dystrophy, 68 patients–identified by clinical assessment and by reduced dystrophin labeling and/or DNA analysis–were followed in the years 1976–1993, for periods ranging from 3 to 18 years (mean 8). Patients periodically underwent clinical, electrocardiographic, echocardiographic, nuclear, and radiological assessments. Preclinical cardiac involvement was found in 67.4% of patients under 16 years of age, decreasing to 30% in patients older than 40. Clinically evident cardiomyopathy was found in 15% of patients under 16 years of age, increasing to 73% in patients older than 40. A real, dilated cardiomyopathy is the most frequent type of myocardial involvement after the age of 20. Results show that the severity of cardiac involvement can be unrelated to the severity of skeletal muscle damage and confirm that cardiac dysfunction is a primary feature of Becker muscular dystrophy.© 1995 John Wiley &Sons, Inc.
Dilated Cardiomyopathy
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Cardiomyopathy is a frequent occurrence in muscular dystrophy, and heart disease in muscular dystrophy can contribute to both morbidity and mortality. A number of novel therapies are being developed for muscular dystrophy, and the efficacy of these therapies for heart disease is unknown. The most common X-linked recessive disease is Duchenne muscular dystrophy (DMD), which arises from defects in the dystrophin gene. Therapy specifically aimed at DMD is reviewed in the context of its projected effect on cardiomyopathy associated with DMD. Additionally, novel therapies are being pursued to treat specifically the cardiomyopathy of DMD. There is substantial genetic heterogeneity underlying the muscular dystrophies, and not all muscular dystrophy patients develop cardiomyopathy. A subset of muscular dystrophies may place patients at significantly greater risk of developing cardiomyopathy and cardiac rhythm disturbances. These disorders are discussed, highlighting recent studies and recommendations for therapy.
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To define characteristics of pediatric asymptomatic idiopathic intracranial hypertension (IIH).We retrospectively reviewed our Neuro-Ophthalmology database (2000-2006) for all cases of symptomatic and asymptomatic pediatric IIH.Out of 45 IIH cases, 14 (31.1%) were asymptomatic (incidental examination). When compared with children with symptomatic IIH, asymptomatic cases were younger [5.6 (1.8-15) vs 11.0 (5-17) years, P = 0.007], had lower percentage of obesity (14.3% vs 48.4%, P = 0.046), and had male predominance (71.4% vs 38.7%, P = 0.06). Asymptomatic cases required shorter duration of acetazolamide treatment [3 (0-8), vs 6 (0-20) months, P = 0.021], and resulted in complete resolution of swollen discs.We speculate that asymptomatic IIH may be more common in young children and could represent a milder form or a presymptomatic phase before evolving into classic symptomatic IIH. Further studies to assess the clinical significance of asymptomatic IIH are warranted.
Acetazolamide
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Core tip: Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene.This condition is rare but not uncommon.However, there are limited articles on this topic.Patients with BMD can present with mental retardation and diffuse muscular dystrophy.Cardiomyopathy is the number one cause of death in BMD.This paper aims to provide a comprehensive overview of BMD pathophysiology and management.The paper will discuss both the established treatments as well as exciting new research on gene therapy.
Pathophysiology
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