The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities
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Read the article on jpedsurg.org ↗Article · Jan 2019 · 1 min read
In brief
In brief
Study of 241 pediatric patients with pectus deformities found Marfan syndrome incidence of 5.3% (17-fold higher than general population) and cardiac anomalies in 35% overall. Combined-type pectus deformities showed highest Marfan association at 20%. Findings support routine cardiac and genetic evaluation for all patients presenting with pectus deformities.
Written by the GCMD Library team from the article.
Purpose
The incidence of Marfan syndrome in the general population is 0.3%. Two-thirds of patients with Marfan syndrome have concurrent pectus deformity. However, incidence of Marfan syndrome and cardiac abnormalities in patients presenting with an isolated pectus deformity remains unknown. We sought to establish the degree of association between pectus deformities and these abnormalities, and whether referral of these patients for cardiac and genetic workup is warranted.
Methods
Our pediatric surgery group refers patients with pectus deformities for genetic and cardiac evaluation. We examined 415 records from 2009 to 2016, and identified 241 patients with a chief complaint of a pectus deformity. Patient characteristics, echocardiogram results, Haller indices, and genetic results were analyzed.
Results
The frequency of Marfan syndrome in our study was 5.3%. The incidence of Marfan was highest among patients with combined type pectus deformity (20%). Cardiac anomalies showed an overall incidence of 35%. Of those diagnosed with Marfan, 84% had cardiac abnormalities.
Conclusion
More than 5% of patients presenting with a chief complaint of pectus deformity will have a diagnosis of Marfan syndrome, compared to 0.3% in the general population. Approximately a third of this population will have cardiac abnormalities. Referral of patients with pectus deformities for evaluation for Marfan syndrome and cardiac abnormalities is appropriate.
Level of Evidence
Level IV.