Cardiac amyloidosis with gastrointestinal involvement: a case report

Medical Ultrasonography
Alina TantauDorel Sampelean

Abstract

Familial amyloidosis is a rare type of amyloidosis, difficult to diagnose. We present the case of a woman with chronic heart failure. Low ejection fraction and concentric left ventricle hypertrophy with granular sparkling were seen by echocardiography and cardiac magnetic resonance imaging. Based on myocardial biopsy and genetic tests, the diagnosis of transthyretin familial amyloidosis, secondary to the Glu54Gln gene mutation, was made. The presentation contains the diagnostic algorithm used in the case of our patient, including clinical, biochemical, imaging, histological and genetic examinations, for the purpose of a complete diagnosis.

Citations

Jan 8, 2020·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Ana Roteta Unceta BarrenecheaMiguel Ángel Torralba Cabeza

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Amyloidosis

Cardiac amyloidosis is a myocardial disease characterized by extracellular amyloid infiltration throughout the heart. Discover the latest research on cardiac amyloidosis here.