Homocystinuria presenting as a calcified right atrial mass

Autor: Tahleel Altaf Shera, Naseer Ahmed Choh, Faiz Altaf Shera, Azher Maqbool Khan
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Annals of Pediatric Cardiology, Vol 11, Iss 2, Pp 214-216 (2018)
Druh dokumentu: article
ISSN: 0974-2069
DOI: 10.4103/apc.APC_174_17
Popis: 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.
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