Homocystinuria presenting as a calcified right atrial mass

Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous thromboembolic phenomena. We present a case of homocy...

Full description

Saved in:
Bibliographic Details
Main Authors: Tahleel Altaf Shera (Author), Naseer Ahmed Choh (Author), Faiz Altaf Shera (Author), Azher Maqbool Khan (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2018-01-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous thromboembolic phenomena. We present a case of homocystinuria who presented to us as a calcified right atrial mass during the evaluation for lower respiratory tract infection. Our case reveals an unusual mix of findings using imaging with multiple detector computed tomography and radiographs.
Item Description:0974-2069
10.4103/apc.APC_174_17