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Coronary artery disease in an 18 year old with pseudoxanthoma elasticum: successful surgical therapy

Insights

Pseudoxanthoma elasticum can affect coronary arteries, leading to severe disease in young adults. This case highlights successful surgical intervention for complex coronary artery disease in a patient with this rare genetic disorder.

Area of Science:

  • Cardiology
  • Genetics
  • Vascular Biology

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by the deposition of calcium and elastin in connective tissues, primarily affecting the skin, eyes, and cardiovascular system.
  • Cardiovascular manifestations of PXE can include arterial calcification, peripheral arterial disease, and premature coronary artery disease (CAD).

Observation:

  • An 18-year-old female with a history of angina pectoris and myocardial infarction presented with three-vessel CAD.
  • Coronary angiography revealed significant stenosis in multiple coronary arteries.
  • Histological examination of a coronary artery segment showed changes consistent with PXE vascular lesions.

Findings:

  • The patient underwent successful triple coronary artery-saphenous vein bypass grafting.
  • She remained asymptomatic for one year post-surgery.
  • Histopathology confirmed PXE-related vascular changes in the affected coronary artery.

Implications:

  • This case underscores the importance of considering PXE in young patients presenting with premature and severe CAD.
  • Early diagnosis and aggressive management of cardiovascular risk factors are crucial in patients with PXE.
  • Surgical revascularization can be an effective treatment option for managing severe CAD in PXE patients.

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