Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Right heart catheterization was performed in 8 patients with progressive muscular dystrophy of the Duchenne type (DMD) at the advanced stage. A mean pulmonary arterial pressure in excess of 20 mmHg was observed in all cases. Five of them showed severe pulmonary hypertension with a mean pressure above 40 mmHg. Since pulmonary hypertension was relieved by correction of hypoxemia, this represented a precapillary pulmonary hypertension caused by constriction of the pulmonary artery. Furthermore, elevation of the mean right atrial pressure above 5 mmHg was observed in 6 of the 8 cases, indicating the possible presence of right ventricular failure. Despite the presence of left ventricular dysfunction as assessed by echocardiogram, no manifestations of left ventricular failure, such as dyspnea and pulmonary rales, were noted in any of the patients. In conclusion, it can be said that even in the terminal stage of DMD, the left ventricular function may, in fact, still remain not markedly involved, and that respiratory failure, as well as right ventricular failure caused by precapillary pulmonary hypertension, will tend to occur frequently and may play a determinant role in prognosis of the advanced DMD patient.
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PMID:Pulmonary hypertension in progressive muscular dystrophy of the Duchenne type. 338 14

Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients. Heart failure developed up to 5 years later. Symptoms of right heart failure, including diarrhoea and peripheral oedema, preceded a rapid decline in left ventricular ejection fraction. Recommendations for cardiac surveillance and management in these patients are made.
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PMID:Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. 2793 54