The risk of conduction block requiring pacing is highest in EDMD but significant bradycardias can be noted in many of the other diseases as the conduction system becomes involved.
Cardiac tachyarrhythmias become more common as left ventricular impairment increases and sudden cardiac death is a possibility.
The presence of conduction defects raises the necessity for prophylactic cardiac pacing and episodes of sustained or non-sustained ventricular tachycardia NSVT may suggest the need for an ICD. Increased QT dispersion has been found to be a marker for ventricular arrhythmias in both BMD and DMD, and should prompt an increase in the regularity of monitoring.
The muscular dystrophies are a heterogeneous group of conditions with widely different clinical features and prognosis. Cardiac involvement is disease specific, may be severe and regular communication is needed between the cardiologist, neurologist and geneticist to provide the patient with optimal care. Whilst some of the diseases are present primarily as disorders of skeletal muscle, cardiac involvement may be the dominant feature in carriers and patients with BMD or myotonic dystrophy.
This may mean the primary diagnosis is overlooked and only comes to light at a later stage. Pacemakers can extend life expectancy in patients with significant conduction defects, in particular in those with EDMD and myotonic dystrophy, and ICD are appropriate in some patients.
Improvements in genetic techniques are now allowing mutation-specific diagnoses to be made and so adequate counselling, management and screening can be put in place for individuals and their families. The importance of regular cardiac screening for carriers and patients is now recognized, in order to prevent sudden death and optimize patient morbidity and mortality, and screening is becoming increasingly more sophisticated with the availability of Tissue Doppler Imaging and Cardiac MRI.
Google Scholar. Google Preview. Oxford University Press is a department of the University of Oxford. It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide.
Sign In or Create an Account. Sign In. Advanced Search. Search Menu. Article Navigation. Close mobile search navigation Article Navigation. Volume Article Contents Abstract. Duchenne muscular dystrophy DMD. Becker muscular dystrophy BMD. Limb-girdle muscular dystrophy LGMD. Congenital muscular dystrophy CMD. Myotonic dystrophy. Cardiac involvement in muscular dystrophies.
Beynon , R. Oxford Academic. Cite Cite R. Select Format Select format. Permissions Icon Permissions. Abstract The muscular dystrophies are a heterogeneous group of conditions with a variable distribution and prognosis.
The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Google Scholar Crossref. Search ADS. Population frequencies of inherited neuromuscular diseases—a world survey. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. A year study of mortality in a cohort of patients with myotonic dystrophy. Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy.
The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study. Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging.
Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy.
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. Left ventricular function and response to enalapril in patients with Duchenne muscular dystrophy during the second decade of life. Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls.
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement.
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement.
The summary of that meeting was published, and can be found here. In addition, a second meeting discussing the progression of Duchenne cardiomyopathy presenting with chest pain and troponin elevation was convened in Troponin is an enzyme that is found cardiac muscle. When the cardiac muscle is damaged, troponin is released into the bloodstream.
An elevated troponin level in your blood means that your cardiac muscle is being damaged. A case study of patients from one institution was published and can be found here By Area. Join Our Mailing List Join. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate. Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy.
This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat arrhythmia , shortness of breath, extreme tiredness fatigue , and swelling of the legs and feet.
These heart problems worsen rapidly and become life-threatening in most cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.
A related condition called X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Duchenne and Becker muscular dystrophies together affect 1 in 3, to 5, newborn males worldwide.
Between and boys in the United States are born with these conditions each year. The DMD gene provides instructions for making a protein called dystrophin. This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. Dystrophin may also play a role in chemical signaling within cells.
Mutations in the DMD gene alter the structure or function of dystrophin or prevent any functional dystrophin from being produced. Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies.
Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy, while mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy.
Because Duchenne and Becker muscular dystrophies result from faulty or missing dystrophin, these conditions are classified as dystrophinopathies. This condition is inherited in an X-linked recessive pattern.
The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes.
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