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Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet
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Multiple pulmonary artery aneurysms in tuberous sclerosis complex.

Vincent Dunet1, Salah Dine Qanadli, Romain Lazor

  • 1Department of Radiology, Lausanne University Hospital, Lausanne, Switzerland. vincent.dunet@chuv.ch

BMJ Case Reports
|January 24, 2013
PubMed
Summary
This summary is machine-generated.

Tuberous sclerosis complex (TSC), a genetic disorder, can exceptionally involve multiple pulmonary artery aneurysms (PAA) alongside other typical TSC manifestations. This case highlights a rare combination of TSC, PAA, and MMPH.

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Area of Science:

  • Genetics
  • Pulmonology
  • Cardiology

Background:

  • Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 tumor suppressor genes.
  • Pulmonary involvement in TSC typically includes lymphangioleiomyomatosis and multiple micronodular pneumocyte hyperplasia (MMPH).
  • Pulmonary artery aneurysms (PAA) are rarely associated with TSC.

Observation:

  • This report details the first known case of TSC presenting with multiple PAAs.
  • The patient also exhibited concurrent MMPH, a common pulmonary manifestation of TSC.
  • Additional findings included cardiac rhabdomyomas and involvement of bone, skin, and brain.

Findings:

  • The co-occurrence of multiple PAAs with MMPH in a TSC patient is unprecedented.
  • This case expands the spectrum of known pulmonary complications in Tuberous Sclerosis Complex.
  • The genetic basis of TSC underlies the development of diverse hamartomatous lesions across multiple organs.

Implications:

  • This case underscores the importance of considering vascular abnormalities, specifically PAAs, in the pulmonary assessment of TSC patients.
  • Further research is warranted to understand the mechanisms linking TSC mutations to PAA development.
  • Comprehensive multi-organ surveillance is crucial for individuals diagnosed with Tuberous Sclerosis Complex.