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The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities. J Pediatr Surg 2019 Sep;54(9):1926-1928

Date

01/29/2019

Pubmed ID

30686517

DOI

10.1016/j.jpedsurg.2018.11.017

Scopus ID

2-s2.0-85060330267 (requires institutional sign-in at Scopus site)   22 Citations

Abstract

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.

Author List

Behr CA, Denning NL, Kallis MP, Maloney C, Soffer SZ, Romano-Adesman A, Hong AR

Author

Caroline Maloney MD, PhD Assistant Professor in the Surgery department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Female
Funnel Chest
Heart Defects, Congenital
Humans
Incidence
Male
Marfan Syndrome
Pectus Carinatum
Retrospective Studies