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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Transthyretin Cardiac Amyloidosis in an Older Athlete
Daniel O'Brien1, Robert A Reiss2
1Cardiology, UCLA Health, Los Angeles, USA.
Abstract:
Cardiac amyloidosis is a clinical condition characterized by deposition of amyloid fibrils in the myocardium, leading to increased left ventricular wall thickness and ultimately heart failure. We present a case of a former athlete who was found to have severe left ventricular hypertrophy (LVH) on echocardiogram and was ultimately diagnosed with wild-type transthyretin (ATTR) cardiac amyloidosis, for which he was started on tafamidis. The recognition and diagnosis of cardiac amyloidosis are important given advances in the ability to diagnose and treat this condition, ideally before a patient develops heart failure symptoms. This report also emphasizes the differences between athletic cardiac remodeling of the heart and pathologic changes suggestive of cardiac disease.
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