A CASE OF COMPOUND HETEROZYGOSITY IN A NIGERIAN MALE WITH IDENTIFICATION oF A NEW TRANSTHYRETIN VARIANT PHE44LEU AND VAL122ILE

摘要

A 74-year old Nigerian male (ATTR #B0626) was admitted to the hospital with congestive heart failure. In 1986 while undergoing a routine physical exam, he was told he had cardiomegaly based on a chest x-ray. In 2004 he was diagnosed with atrial fibrillation and had been on anti-coagulation since that time. Approximately 1 year prior to his presentation, he developed lower extremity edema and dyspnea on exertion He was diagnosed with non-ischemic cardiomyopathy and treated with diuretics He had no known family history of any cardiac disease.