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Homocystinuria presenting as a calcified right atrial mass

Tahleel Altaf Shera1, Naseer Ahmed Choh1, Faiz Altaf Shera1

  • 1Department of Radiodiagnosis and Imaging, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.

Annals of Pediatric Cardiology
|June 21, 2018
PubMed

Insights

Homocystinuria, a metabolic disorder, can manifest as a calcified right atrial mass. This rare presentation highlights unusual imaging findings in a patient evaluated for respiratory infection.

Area of Science:

  • Cardiology
  • Metabolic Disorders
  • Genetics

Background:

  • Homocystinuria is an inherited metabolic disorder caused by cystathionine β-synthase deficiency.
  • This deficiency leads to elevated homocysteine and methionine, and reduced cysteine levels.
  • These biochemical changes increase the risk of arterial and venous thromboembolism.

Observation:

  • A case of homocystinuria presented with a calcified right atrial mass.
  • The patient was initially evaluated for a lower respiratory tract infection.
  • Unusual imaging findings were observed using multiple detector computed tomography and radiographs.

Findings:

  • The study identifies a rare association between homocystinuria and a calcified right atrial mass.
  • Imaging modalities revealed a unique combination of diagnostic features.
  • This case underscores the diverse clinical manifestations of homocystinuria.

Implications:

  • This case expands the understanding of cardiac manifestations in homocystinuria.
  • It highlights the importance of considering metabolic disorders in patients with unexplained cardiac masses.
  • The findings emphasize the utility of advanced imaging in diagnosing rare conditions.

Keywords:
Calcified cardiac masscardiac thrombushomocystinuria

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