Cardiac Features of an Unusual X-Linked Humeroperoneal Neuromuscular Disease

“…Humeroperoneal neuromuscular disease with cardiac conduction defects is an X-linked form of muscular dysfunction in which Type I muscle fibers are affected and result in an unusual distribution of atrophy in the proximal upper and distal lower limbs [6] . Of particular interest in this kindred was the cardiac conduction defect, which often preceeded overt muscle atrophy.…”

Section: Clinical Descriptionmentioning

confidence: 99%

“…Benefit-to-cost ratio should be greater in a selected high risk population. In this study, private and societal costs were documented by applying genetic principles and benefit-to-cost analysis to a recently defined disorder in a single kindred of 167 members [6] . The phenotype, genetic discriminants, and transmission as an X-linked form of neuromuscular disease were defined.…”

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confidence: 99%

“…The life-threatening aspect of this disease was the cardiac involvement noted in all affected males. Cardiac signs originated with small p waves and prolonged PR intervals, and progressed to complete AV block with bradycardic idioventricular rhythms and atrial paralysis requiring pacemaker implantation [6] . In this family we detected small p waves, prolonged PR intervals, and elevated muscle enzymes in adolescent males, the youngest being 12 years old.…”

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confidence: 99%

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Application of benefit‐to‐cost analysis to an X‐linked recessive cardiac and humeroperoneal neuromuscular disease

Wright

Elsas

1980

Am. J. Med. Genet.

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Benefit-to-cost analysis (using standard economic methods) and the predictive tools of genetics are important in the assessment of genetic services for high burden, single gene disorders. We have studied 6 generations of a 167-member, stable, North Georgia kindred at risk for X-linked recessive humeroperoneal neuromuscular disease with cardiac conduction defects. This disorder began in affected males in the teen years, with total disability expected by the 3rd decade and death by age 50. Using known fecundity rates and Mendelian probabilities, 26.6 heterozygous females and 9.4 hemizygous affected males were expected in the currently developing generation. We compared the compensatory costs for families with affected males against costs of genetic intervention for this disorder. All costs and benefits were discounted to present values at 6% and 10% and a benefit-to-cost ratio was derived. At a 6% discount rate the benefit-to-cost ratio was 21 to 1 while at a 10% discount rate the benefit-to-cost ratio was 14 to 1. We conclude that although this is an unusual X-linked muscular dystrophy, it constitutes a prototypic public and private expense which is largely preventable. The method of cost accounting within pedigrees has wide applicability. The results reemphasize the economic benefit of comprehensive public health programs in genetics, particularly in areas with stable, high risk-populations.

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“…2 . 3 Although some authors have suggested that the cardiopathy of EDMD is represented exclusively by supraventricular arrhythmias and is thus correctible by ventricular p a~i n g ,~, I l recent reports have revealed additional problems. I 2 .…”

Section: Introductionmentioning

confidence: 99%

Progression of cardiac disease in emery‐dreifuss muscular dystrophy

Bialer¹,

McDaniel²,

Kelly³

1991

Clinical Cardiology

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Summary: Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular dystrophy characterized by early contractures, progressive muscle weakness, and atrial arrhythmias. Recent reports suggest that there may be additional cardiac problems in affected males and that carrier temales may also show ECG abnormalities. We restudied two large families with EDMD in order to determine the extent o f these problems. We examined 10 affected males and interviewed 2 others. The 3 affected males less than 20 years old had no ECG changes. All affected men of 35 years or older had arrhythmias. One had more severe arrhythmias when asleep, indicating the usefiilness of continuous 24-h ECG monitoring in the evaluation of males affected with EDMD. Two required pacemakers, 4 had already had a pacemaker placed, and 4 other affected men with pacemakers had died prior to this study. One affected man with a pacemaker developed ventricular bigeminy and another developed congestive hean failure. Thus of 10 affected males with pacemakers, 6 had additional cardiac symptoms and 4 have died. Males with EDMD may survive longer with a ventricular pacemaker, but this may increase the likelihood that they will develop cardiomyopathy and ventricular arrhythmias. Of34 carrier females examined, 6 had arrhythmias typical of EDMD. Two required a pacemaker. The risk of arrhythmia increased with age. Results from one family should be extrapolated to another with caution, as there appears to be significant interfamilial variation. We suggest careful cardiologic follow-up of EDMD patients and regular cardiac evaluations for older carrier females.

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Cardiac Features of an Unusual X-Linked Humeroperoneal Neuromuscular Disease

Cited by 91 publications

References 19 publications

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

Application of benefit‐to‐cost analysis to an X‐linked recessive cardiac and humeroperoneal neuromuscular disease

Progression of cardiac disease in emery‐dreifuss muscular dystrophy

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