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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autopsy studies have shown that cardiomyopathy of Duchenne's muscular dystrophy (DMD) is characterized by fibrosis of the posterobasal and contiguous lateral wall of the left ventricle. This study was designed to determine whether stress testing would improve the sensitivity of echocardiography to detect secondary impairment of regional myocardial function. 12 patients aged 5 to 23 years with DMD were investigated. TM- and 2D-echocardiograms were performed before and during graded infusion of angiotensin (A) (0.5 to 5.0 mcg/min), and parameters of cardiac function analyzed. Satisfactory echocardiograms were obtained in all patients. Stress testing with A proved feasible in DMD and did not interfere with echocardiography. Before A all patients were in regular sinus rhythm and free of cardiac symptoms. Left ventricular function was normal in 9 patients and considered abnormal in 3 patients with hypokinesis and increased echo intensity of the posterobasal and lateral wall (2D short axis view) and/or a posterior wall to septal amplitude ratio of less than or equal to 1.1 (TM-echocardiogram). During A mean blood pressure rose and heart rate dropped significantly. 9 patients had marked supraventricular arrhythmias, 8 complained of dyspnea, cough or chest pain. Hypo- or akinesis of the posterobasal and sometimes the lateral wall was seen in 8, and a posterior wall to septal amplitude ratio of less than or equal to 1.1 in 9 patients. 3 patients, all with a muscle score of 60% or higher, remained free of symptoms and had no regional contraction abnormalities. Thus, clinical symptoms during A suggested latent congestive heart failure in many of the patients, and echocardiography identified provokable contraction abnormalities of such segments of the ventricular wall known to be most frequently involved in the dystrophic process in DMD. Stress testing revealed a correlation between clinical symptoms, abnormal echocardiographic findings and extent of the skeletal muscle disease in our study group. Physical limitation seems to protect the heart against demands that would otherwise cause earlier clinical manifestation of the cardiomyopathy in DMD.
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PMID:[Cardiac manifestation of progressive muscular dystrophy of the Duchenne type]. 378 61

Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea.
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PMID:Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. 1608 6

Inherited heart conditions are the most common cause of sudden cardiac death in those under the age of 35 and the leading cause of non-traumatic death in young athletes. Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease affecting 1 in 500 of the population. Some patients may exhibit severe left ventricular hypertrophy, others may show nothing more than an abnormal ECG. Left ventricular hypertrophy most commonly manifests in the second decade of life. Sudden death is rare and usually affects patients in the first three decades whereas older patients present with heart failure, atrial fibrillation and stroke. Arrhythmogenic right ventricular cardiomyopathy is a rare, autosomal dominant heart muscle disorder which affects between 1 in 1,000 and 1 in 5,000 of the population. Dilated cardiomyopathy (DCM) is characterised by a dilated left ventricle with impaired function that cannot be explained by ischaemic heart disease, hypertension or valvular heart disease. At least 25% of cases of DCM are familial. DCM may be associated with multisystem conditions such as muscular dystrophy. Chemotherapy and certain other drugs, alcohol abuse and myocarditis may also lead to a dilated and poorly contracting left ventricle. In many cases the first manifestation of an inherited cardiomyopathy can be a sudden cardiac arrest. Other presentations include chest pain or breathlessness during exertion, palpitations and syncope. In many of the cardiomyopathies, the diagnosis can be made with a standard ECG and echocardiogram. However if the diagnosis is not certain or the cardiologist wishes to look at the heart structure in greater detail, a cardiac MRI may be performed.
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PMID:Diagnosis and management of inherited cardiomyopathies. 2559 Dec 84

Takotsubo syndrome is a rare cause of reversible ventricular dysfunction that imitate an acute coronary syndrome. The entity is unusual among pediatric populations and a recurrent episode is extremely rare. We report a case of recurrent takotsubo syndrome in an eight-year-old boy with Duchenne muscular dystrophy (DMD). His chest pain episodes were aggravated by a strong emotional stimuli. During episodes of chest pain, electrocardiograms (ECG) showed ST elevation while echocardiograms showed left ventricle apical ballooning; however, a coronary angiography was normal. Serial ECG and echocardiogram revealed a spontaneous resolution of ST elevation and normalized apical contraction which were compatible with the diagnosis of takotsubo syndrome. Interestingly, serial cardiac magnetic resonance imaging demonstrated increasing subepicardial enhancement which was compatible with progression of cardiac involvement in DMD. <Learning objective: Takotsubo syndrome should be considered in pediatric patients with acute chest pain. A recurrent episode of takotsubo syndrome is rare but is possible in pediatric populations. Patients with inherited muscular dystrophy could also develop takotsubo cardiomyopathy. A growing awareness of this syndrome may help physicians to diagnose and provide an early appropriate management of children with chest pain.>.
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PMID:Recurrent Takotsubo syndrome in a boy with Duchenne muscular dystrophy: A case report. 3132 Sep 47