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Dyskeratosis Congenita: A Case Report of a Patient With Coronary Artery Disease

Michael Ghaly1, Mark Ghaly2, Samuel Harris1

  • 1Internal Medicine, Baptist Memorial Hospital, Oxford, USA.

Cureus
|July 27, 2023
PubMed

Insights

Patients with dyskeratosis congenita, a telomere biology disorder, face higher risks of coronary artery disease. A case study shows successful coronary artery bypass graft (CABG) surgery improved cardiac function in a patient with this rare genetic condition.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Telomere biology disorders (TBDs) like dyskeratosis congenita (DC) are linked to increased cardiovascular disease (CVD) risk.
  • Understanding the specific mechanisms connecting TBDs and CVD is crucial for patient management.

Observation:

  • A 43-year-old female with diagnosed dyskeratosis congenita presented with critical cardiovascular disease.
  • The patient's condition necessitated surgical intervention for her cardiac issues.

Findings:

  • The patient successfully underwent coronary artery bypass graft (CABG) surgery.
  • Post-CABG, significant improvement in cardiac function was observed.

Implications:

  • This case highlights the severe cardiovascular manifestations in dyskeratosis congenita.
  • Further research is needed to elucidate the pathophysiology of CVD in DC patients.
  • Investigating TBD-CVD links may reveal novel therapeutic targets for both conditions.

Keywords:
aplastic anemiacardiovascular disease (cvd)cardiovascular preventioncoronary artery by-pass graftingcoronary artery diseasedyskeratosis congenitaheart failure with reduced ejection fractionpulmonary fibrosisst-elevation myocardial infarction (stemi)telomere shortening

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