- A recently published study examined the incidence of Marfan and cardiac problems in people with pectus deformities
- 5% of people presenting with pectus deformities had Marfan
- 35% of all people presenting with pectus deformities had a cardiac abnormality, the most common being mitral valve prolapse
- 100% of people with a confirmed diagnosis of Marfan had a cardiac abnormality, the most common being mitral valve prolapse and dilated aortic root
People with Marfan and other connective tissue disorders commonly have pectus deformities, but a recent study published in the Journal of Pediatric Surgery aimed to assess the incidence of Marfan and other cardiac abnormalities in people presenting with PE deformities.
A total of 241 cases were reviewed, including patients with pectus excavatum (187 patients), pectus carinatum (49 patients), and mixed type (5 patients) pectus deformities. Most patients included in the study were male.
Of all patients reviewed, 5% had a confirmed diagnosis of Marfan’s. Of patients with pectus excavatum, 5.3% of patients had Marfan’s, and of patients with pectus carinatum, 4.1% had Marfan’s. 46% of patients with Marfan’s had a family history.
Based on cardiac echocardiogram, about 35% of all patients reviewed had a cardiac abnormality. The most common cardiac problem detected was a murmur.
- Mitral valve prolapse (19% of all patients with a pectus deformity)
- Mitral valve regurgitation (12% of all patients with a pectus deformity)
- Tricuspid valve regurgitation (11% of all patients with a pectus deformity)
All patients with a confirmed diagnosis of Marfan had at least one cardiac abnormality, with mitral valve prolapse (77% of Marfan’s patients) being most common and a dilated aortic root (62% o Marfan’s patients) being second most common.