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Pulmonary hyperinflation and emphysema in infants with the Marfan syndrome
Insights
Marfan syndrome, a genetic disorder affecting collagen, can cause serious lung issues in infants. This study highlights previously underrecognized pulmonary problems in infants with Marfan syndrome.
Area of Science:
- Pulmonology
- Genetics
- Radiology
Background:
- Marfan syndrome is a genetic disorder of type I collagen.
- It typically presents with skeletal, cardiac, and ophthalmological issues.
- Pulmonary manifestations are less understood and rarely documented radiologically.
Observation:
- This study details the clinical and radiographic lung findings in four infants with Marfan syndrome.
- Pathologic correlations from autopsy specimens of two patients are included.
- The study reviews existing literature on pulmonary abnormalities in this disorder.
Findings:
- Infants with Marfan syndrome can exhibit significant pulmonary abnormalities.
- Radiographic and pathologic findings confirm lung involvement in this condition.
- This research adds to the understanding of Marfan syndrome's impact on the lungs.
Implications:
- Increased awareness of pulmonary manifestations in Marfan syndrome is crucial for early diagnosis and management.
- Radiological documentation is essential for recognizing lung involvement.
- Further research is needed to fully elucidate the spectrum of pulmonary issues in Marfan syndrome.
Abstract:
The Marfan syndrome is a dominantly inherited disorder of type I collagen with well recognized skeletal, cardiac and ophthalmological manifestations. Less recognized are the pulmonary manifestations of the disease. Although chronic pulmonary emphysema, interstitial lung disease with honey combing and spontaneous pneumothorax have been sporadically reported, there is no documentation of these abnormalities in the radiological literature. We describe the clinical and radiographic findings in the lungs of four infants with Marfan's syndrome and provide pathologic correlation from autopsy specimens of two of these patients. In addition, we have updated the literature describing the pulmonary abnormalities of this still obscure disorder.