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Pericardial Cyst in Birt-Hogg-Dubé Syndrome: An Unexpected Discovery

Gagandeep Singh Arora1, Sudeshna Ghosh1, Jarmanjeet Singh2

  • 1Internal Medicine, University of California, Riverside, School of Medicine, Riverside, USA.

Cureus
|July 24, 2023
PubMed

Insights

Birt-Hogg-Dubé syndrome (BHD) patients can experience chest pain from pericardial cysts, not just pulmonary issues. This case highlights atypical causes of chest pain in genetic disorders.

Area of Science:

  • Cardiology
  • Genetics
  • Pulmonology

Background:

  • Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder.
  • Classic BHD manifestations include pulmonary cysts, skin tumors, and kidney tumors.
  • Pericardial cysts are not a typical feature of BHD.

Observation:

  • An 87-year-old male with known BHD presented with chest pain.
  • He had a large pericardial cyst.
  • Coronary angiography showed non-obstructive coronary arteries.

Findings:

  • The patient's chest pain was attributed to myocardial infarction with non-obstructive coronary arteries (MINOCA).
  • The large pericardial cyst was considered a potential cause of retrosternal pain.
  • BHD can cause chest pain via pulmonary cyst rupture and spontaneous pneumothorax.

Implications:

  • Pericardial cysts can cause chest pain mimicking angina.
  • Atypical causes of chest pain must be considered in patients with genetic syndromes like BHD.
  • This case broadens the differential diagnosis for chest pain in BHD patients.

Keywords:
birt-hogg-dubé syndromechest discomfortcoronary artery diseasecystic lung diseaseelderly patientgenetic syndromeslower lobe predominancenonobstructive coronary artery diseasepericardial cystpneumothoraces

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