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AMERICAN ACADEMY of PEDIATRICS Cardiovascular AMERICAN ACADEMY OF PEDIATRICS CLINICAL REPORT Organizational Principles to Guide and Define the Child Health Care System and/or Improve the Health of All Children Section on Cardiology and Cardiac Surgery Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy ABSTRACT. Duchenne muscular dystrophy is the most ease is characterized by alternating areas of myocyte common and severe form of the childhood muscular hypertrophy, atrophy, and fibrosis.8 dystrophies. The disease is typically diagnosed between Over the last 20 years, respiratory care of this 3 and 7 years of age and follows a predictable clinical group of patients has improved as a result of the course marked by progressive skeletal muscle weakness development of supportive equipment and tech- with loss of ambulation by 12 years of age. Death occurs 9 in early adulthood secondary to respiratory or cardiac niques. Consequently, dilated cardiomyopathy is 10–12 failure. Becker muscular dystrophy is less common and increasing as the major cause of death. The time has a milder clinical course but also results in respiratory course for the development of cardiomyopathy has and cardiac failure. The natural history of the cardiomy- not been well characterized; however, clinical studies opathy in these diseases has not been well established. demonstrate that the disease process in the heart is As a result, patients traditionally present for cardiac eval- underway long before symptoms appear.13–15 Early uation only after clinical symptoms become evident. The manifestations of heart failure often go unrecognized purpose of this policy statement is to provide recommen- secondary to physical inactivity and a lack of classic dations for optimal cardiovascular evaluation to health 16 care specialists caring for individuals in whom the diag- signs and symptoms. Signs of cardiac dysfunction nosis of Duchenne or Becker muscular dystrophy has may be vague and nonspecific, such as fatigue, been confirmed. Pediatrics 2005;116:1569–1573; cardio- weight loss, vomiting, or sleep disturbance. Cur- vascular. rently at many medical centers, affected individuals do not come to the attention of the cardiac specialist until late in the disease process when the clinical ABBREVIATIONS. DMD, Duchenne muscular dystrophy; BMD, Becker muscular dystrophy. manifestations of cardiac dysfunction become evi- dent. This reactive, rather than proactive, approach INTRODUCTION must change if progress is to be made in the treat- ment of dilated cardiomyopathy in this patient pop- uchenne muscular dystrophy (DMD) is a ulation.17 Sensitive and specific diagnostic tests to common genetic disease that affects approx- detect early and subtle manifestations of cardiac dys- imately 1 in 3000 males. Becker muscular D function are not available currently and need to be dystrophy (BMD) is less common, affecting approx- developed. Echocardiography, which remains the imately 1 in 30 000 males.1 Both diseases result from a mutation in the gene located at Xp21,2,3 which standard noninvasive diagnostic modality for car- encodes dystrophin, a sarcolemmal protein abun- diomyopathy, is often limited in patients with DMD dant in skeletal and cardiac muscle cells.4 Dystro- and BMD by scoliosis and poor echocardiographic phin is typically absent in DMD and reduced or acoustic windows. abnormal in size in BMD.5 Cardiac rhythm abnormalities are frequent and play a significant role in morbidity and mortality in DMD typically is diagnosed between the ages of 3 18 and 7 years and is characterized by progressive skel- both DMD and BMD. Electrocardiographic abnor- etal muscle weakness with loss of ambulation be- malities can be seen early in the disease, with an 16 tween the ages of 7 and 13 years. The BMD pheno- incidence of 26% by 6 years of age. Autonomic type is clinically more heterogeneous with initial dysfunction with increased mean baseline heart rate presentation in the teenage years. Death secondary to and decreased rate variability has been well de- 19–21 cardiac or respiratory failure typically occurs in the scribed. However, the significance of these find- second or third decade in DMD and in the fourth or ings relative to the course of the cardiomyopathy has fifth decade in BMD. Cardiac disease in both DMD not been well established. and BMD manifests as a dilated cardiomyopathy Treatment paradigms to date have been individu- and/or cardiac arrhythmia.6,7 End-stage cardiac dis- ally based and rely on evidence acquired from other patient populations. Cardiac dysfunction is treated by using standard heart-failure strategies that remain suboptimal. Unfortunately, there is minimal evidence- doi:10.1542/peds.2005-2448 PEDIATRICS (ISSN 0031 4005). Copyright © 2005 by the American Acad- based literature regarding the use and effect of an- emy of Pediatrics. giotensin-converting enzyme inhibitors or ␤-blockers Downloaded from www.aappublications.org/news PEDIATRICSby guest on September Vol. 11624, 2021 No. 6 December 2005 1569 on morbidity and mortality in this patient popula- Postoperative maintenance of fluid balance and car- tion.22–24 Prospective clinical trials are required to diopulmonary monitoring is critical for this patient evaluate the effectiveness of these treatments in this population. group of patients. Strategies that target the unique Nutrition is also critical in the care and manage- molecular etiology of heart failure in dystrophin- ment of patients with DMD, because they require deficient individuals need to be developed if the regular monitoring to maintain ideal body weight. cardiovascular care of patients with DMD and BMD Obesity and undernutrition are known to occur in is to improve. this group of patients.41,42 Both have been shown to The cardiovascular system must also be consid- be detrimental to cardiac health in other popula- ered when addressing the diverse medical and sur- tions,43 although there is a paucity of literature re- gical issues faced by patients with DMD and BMD. garding the effect of nutrition on cardiovascular The administration of systemic glucocorticoids is be- health in patients with DMD. Glucocorticoid-in- coming standard treatment for the skeletal muscle duced obesity and osteoporosis will further nutri- disease.25–27 In addition to the potential to improve tionally affect the patient with DMD. or stabilize cardiac function, there is the potential to Patients with DMD and BMD may also be at in- increase long-term cardiovascular risk28,29 including creased risk of thromboembolic events secondary to but not limited to the development of obesity and the prothrombotic consequences of muscle degener- systemic arterial hypertension. Glucocorticoid treat- ation.44–48 This risk is amplified in the presence of ment also may result in the development of left cardiac dysfunction. As a result, anticoagulation ventricular hypertrophy, with the potential of alter- therapy should be considered in this subgroup of ing cardiac function.30 At present, there is no uni- patients. However, there is minimal evidence-based formly accepted or standardized treatment protocol literature regarding the use and effect of anticoagu- for glucocorticoid use.31,32 Research is required to lation therapy in these patients. determine the cardiovascular effects of long-term Optimal cardiac care cannot be accomplished glucocorticoid use in patients with DMD. without maximizing pulmonary function.49 Hy- To manage the musculoskeletal complications in poventilation and respiratory muscle weakness are DMD and BMD, orthopedic surgical procedures are known to increase wall stress.50 Aggressive pulmo- frequently recommended.33,34 The patient with DMD nary care not only affects morbidity and mortality as or BMD faces unique risks not only in the operating a result of reducing respiratory complications but room but also in the postoperative period.35,36 Poten- also functions to decrease afterload and left ventric- tial complications include respiratory failure, pulmo- ular wall stress, resulting in improved cardiac out- nary aspiration, atelectasis or collapse of major lung put. In 2004, the American Thoracic Society released segments, postoperative pneumonia, congestive a consensus statement regarding the respiratory care heart failure, and cardiac arrhythmias. The patient of patients with DMD.9 These recommendations with DMD or BMD often has a limited ability to should be considered carefully. increase cardiac output in response to stress and thus Female carriers of DMD or BMD are also at risk of is at risk of inadequate oxygen delivery. Blood loss developing cardiomyopathy. The age of onset of clin- and fluid shifts during surgical procedures further ically significant disease is unclear but is thought to compromise cardiac output and adequate oxygen be in the adult years.51 Cardiac involvement in the delivery.37 As a result, it is essential that baseline carrier can be variable, ranging from asymptomatic cardiac and pulmonary function be evaluated before to severe heart failure necessitating cardiac trans- any major surgical procedure. Patients with DMD or plantation.52,53 Carriers, therefore, require periodic BMD have additional operative risks. Succinylcho- cardiovascular screening.54,55 In addition, there is a line chloride should be avoided because of its predi- critical need to research the natural history and out- lection to cause a hyperkalemic response, which is come of therapies in female carriers. different from malignant hyperthermia but is poten- Mutations in dystrophin
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