A Chinese patient with Madelung's disease and alcoholic cardiomyopathy: a case report and literature review.

Abstract

Background: Madelung's disease is a rare disorder characterized by massive deposits of excess subcutaneous fat around the neck, shoulders, arms, and other parts of the body. It has a high prevalence among middle-aged alcoholic men in Mediterranean countries and a low incidence in Asian populations. Although patients with Madelung's disease are often associated with a variety of alcohol-induced metabolic disorders, the comorbidity of alcoholic cardiomyopathy is rarely reported, probably because of its low incidence or neglect by clinicians.

Case report: A 67-year-old man with a 10-year history of soft fat masses in the neck developed chest tightness and shortness of breath on exertion for the past 2 years. Laboratory tests revealed elevated γ-glutamyl transferase, glucose intolerance, hyperuricemia, hyperlipidemia, and anemia. Computed tomography of the neck showed symmetric nonencapsulated fat deposits, mainly in the anterior cervical regions. Echocardiography showed left heart enlargement and severe global left ventricular systolic dysfunction with an ejection fraction of 31%. Coronary angiography revealed 40-50% stenoses of the left anterior descending and right coronary arteries. After the exclusion of other causes of dilated cardiomyopathy, the patient was finally diagnosed with type I Madelung's disease and alcoholic cardiomyopathy. He underwent lifestyle changes, including reducing his alcohol intake, and received full pharmacological treatment for heart failure. One and a half years later, his cardiac function was partially restored, and all metabolic abnormalities improved except for elevated liver enzymes.

Conclusions: Alcohol use disorder should be assessed in patients with newly diagnosed Madelung's disease. Screening for alcoholic cardiomyopathy in alcoholic patients with Madelung's disease is necessary for early detection of cardiac abnormalities and intervention to improve the prognosis of this group of patients.