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...

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Bibliographic Details
Published in:Annals of pediatric cardiology 2018-05, Vol.11 (2), p.214-216
Main Authors: Shera, Tahleel, Choh, Naseer, Shera, Faiz, Khan, Azher
Format: Article
Language:English
Subjects:
Blood clots
Calcification
Calcified cardiac mass
cardiac thrombus
Care and treatment
Case Report
Case studies
Catheters
Diagnosis
Heart
Homocysteine
Homocystinuria
Intellectual disabilities
Medical imaging
Metabolism
Metastasis
Patients
Thrombosis
Tomography
Tumors
Citations: Items that cite this one
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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.
ISSN:0974-2069
0974-5149
DOI:10.4103/apc.APC_174_17