Pectus excavatum, mitral valve prolapse (MVP), and dilated aortic root occur frequently in patients with Marfan's syndrome (MS). Patients with isolated pectus excavatum (IPE) have a high prevalence of MVP, but it is not known whether aortic root dilatation is a risk in those patients. To test the hypothesis that IPE and MS represent a spectrum of connective tissue dystrophy with MV and aortic root involvement, two-dimensional (2D) echocardiography was used to measure the aortic root diameter and assess for MVP in IPE (n=31), MS (n=14), and normal (n=16) gender- and age-matched patients. Aortic root was measured in parasternal long- and short-axis views, just above the aortic sinuses, at end systole, in six cardiac cycles, and averaged. Parasternal long-axis view was used to assess for MVP. Aortic root diameter in IPE patients was not different from that in normal subjects, 24±4 mm vs 22±4 mm (p=NS), respectively, both were significantly smaller than that in MS patients (30±5 mm;p<0.05). MVP was present in 17 of 31 (55%) IPE patients vs 12 of 14 (86%) MS patients (p=NS) and in only 1 of 16 (6%) normal subjects (p<0.05) vs both IPE and MS. We conclude that young patients with IPE represent an isolated form of connective tissue abnormality because of the presence of pectus excavatum and MVP, but this is different from the systemic involvement of MS because of the lack of other systemic findings, including aortic root dilatation and changes in body habitus.
- Aortic root
- Isolated pectus excavatum
- Marfan's syndrome
- Mitral valve
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Cardiology and Cardiovascular Medicine