Non-biopsy diagnosis of familial amyloid cardiomyopathy
An 84-year-old male, former smoker yet without other cardiovascular risk factors, has a history of carpal tunnel syndrome, chronic axonal sensorimotor polyneuropathy moderate to a severe degree, more prominent in the lower extremities, colonic diverticulosis, and large internal hemorrhoids. The patient has a family history of cardiomyopathy, with both fathers and five of his seven brothers died of cardiomyopathy, an unknown etiological diagnosis.
During 2016, he was admitted to internal medicine for dyspnea, with a diagnosis on discharge of heart failure with evidence of myocardial amyloidosis. Several examinations yielded the following results: normal blood cell count, normal liver and kidney function, normal serum protein and immunochemistry, free kappa chains 27.5 (increased), lambda chains and normal ratio (k/l 1.7), selective glomerular proteinuria without Bence Jones proteinuria, and negative Chagas serology.
Transthoracic echocardiogram pointed out non-dilated left ventricle,...
The authors have nothing to disclose.
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