title: Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy.
abstract: A 40 year-old woman presented to hospital with 12h of progressive shortness of breath. She was 11 days postpartum, having delivered a full-term male infant. She was discharged on antibiotics for presumed pneumonia, but represented two days later with NYHA class IV symptoms and in acute decompensated heart failure confirmed on clinical examination and chest X-ray. Echocardiography showed a left ventricular ejection fraction (LVEF) of 20%. She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function within six months. Four years later, her son was diagnosed with Duchenne muscular dystrophy (DMD) and she tested positive as a carrier of the mutant gene. It is unclear whether the DMD carrier state alone is associated with increased susceptibility to PPCM or if this is merely the first expression of cardiomyopathy in a previously asymptomatic carrier.
authors.affiliation: Department of Medicine, St. Vincent's Hospital, 41 Victoria Parade, Fitzroy, VIC 3065, Australia.
authors.forename: Victoria E
authors.initials: VE
authors.lastname: Cheng
authors.forename: David L
authors.initials: DL
authors.lastname: Prior
mesh_terms: D000319:Adrenergic beta-Antagonists / Q000008:administration & dosage; D000328:Adult; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000008:administration & dosage; D009202:Cardiomyopathies / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D004232:Diuretics / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000178:diet therapy / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D058725:Peripartum Period; D013318:Stroke Volume / Q000187:drug effects / Q000235:genetics
chemical_list: D000319:Adrenergic beta-Antagonists; D000806:Angiotensin-Converting Enzyme Inhibitors; D004232:Diuretics
keywords: Dilated cardiomyopathy; Duchenne muscular dystrophy