Cardiac amyloidosis with gastrointestinal involvement: a case report.
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.
4th Medical Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania. E-mail:alitantau@gmail.com.
Alina
A
Tantau
Railway Hospital Cluj Napoca, Romania.
Ioan
I
Avram
4th Medical Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Angela
A
Cozma
4th Medical Department, University of Medicine and Pharmacy "Iuliu Hatieganu", Cluj-Napoca, Romania.
Dorel
D
Sampelean
D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D004452:Echocardiography / Q000379:methods*; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000235:genetics; D006333:Heart Failure / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008875:Middle Aged