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

Myocardial fat is often seen at cardiac computed tomography (CT) and magnetic resonance (MR) imaging of healthy adults and patients with myocardial diseases. Physiologic myocardial fat develops with aging and is commonly seen at CT in the anterolateral right ventricular (RV) free wall and RV outflow tract with normal or thickened RV myocardium and a normal-sized RV in elderly patients. Pathologic conditions with myocardial fat include healed myocardial infarction (MI); arrhythmogenic RV cardiomyopathy or dysplasia (ARVC); and others, such as cardiac lipoma, lipomatous hypertrophy of the interatrial septum, tuberous sclerosis complex, dilated cardiomyopathy, and cardiomyopathy with muscular dystrophy. In patients with healed MI, CT and MR imaging show fat in left ventricular myocardium that is of normal thickness or thin and follows the distribution of the coronary artery; CT often depicts fat in mostly subendocardial regions. In patients with ARVC, characteristic CT and MR imaging findings include a thin RV outflow tract and free wall caused by subepicardial fatty infiltration; fat in the RV moderator band, trabeculae, and ventricular septum; and RV enlargement and wall motion abnormality. Recognition of patient age, characteristic locations of myocardial fat, myocardial thickness, and ventricular size helps in differentiating physiologic and pathologic myocardial fat at cardiac imaging; findings of wall motion abnormality and late gadolinium enhancement at MR imaging help narrow the diagnosis.
 ...
PMID:Myocardial fat at cardiac imaging: how can we differentiate pathologic from physiologic fatty infiltration? 2107 77

Emery dreifuss muscular dystrophy (EDMD) is a rare genetic syndrome consisting of tendon retractions, progressive muscle atrophy and cardiac involvement. We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy. To date, EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions. Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation.
 ...
PMID:Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? 3007 54