Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review

• Published in: Radiology case reports Vol. 18; no. 3; pp. 1337 - 1341
• Main Authors: Hama-Karim, Diar S., Othman, Yad N., Majeed, Zryan Salar, Ali, Razhan K., Mohammed, Arian, Muhamad, Han Nihad
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 01.03.2023; Elsevier
• Subjects: Cardiac amorphous tumor; Cardiac surgery; Case Report; Homocystinuria; Pediatric; SVC; RV; MRI; CAD; Cardiac surgery; RA; PA; Homocystinuria; Case report; IVC; Cardiac amorphous tumor; HCU; Pediatric; CT scan; IVC, inferior vena cava; PA, pulmonary artery; SVC, superior vena cava; HCU, homocystinuria; RV, right ventricle; MRI, magnetic resonance imaging; CAD, cardiac amorphous tumor; RA, right atrium; CT scan, computed tomography scan
• ISSN: 1930-0433; 1930-0433
• DOI: 10.1016/j.radcr.2022.12.040

Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally. Cardiac amorphous tumor has been recognized in the past 20 years and it is also a very rare cause primary benign tumor of the heart. Most of the cases reported to be associated with end-stage renal disease. Homocystinuria associated with Cardiac Amorphous tumor is extremely rare. Up to our knowledge, there has been only one other case has been reported. Our patient is a 14-year-old female known case of homocystinuria presented with dyspnea and leg edema. On workup was found to have a mass in the right atrium extending to superior vena cava and inferior cava. Surgery undertaken on cardiopulmonary bypass partial resection of the mass was done and result came back as cardiac amorphous tumor. We assume the cause of this sinister complication of her primary illness is calcification of thrombus as stated in literature. And also recommend further studies regarding issue on hand.