The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities
| Autor: | Angela Romano-Adesman, Christopher A. Behr, Naomi-Liza Denning, Caroline Maloney, Andrew R. Hong, Michelle P. Kallis, Samuel Z. Soffer |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Heart Defects
Congenital Male musculoskeletal diseases Marfan syndrome congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Population Patient characteristics Marfan Syndrome 03 medical and health sciences 0302 clinical medicine Pectus excavatum Pectus Carinatum 030225 pediatrics Pediatric surgery medicine Humans In patient education Retrospective Studies education.field_of_study business.industry Incidence Incidence (epidemiology) General Medicine medicine.disease Funnel Chest 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Pectus carinatum Female Surgery business |
| Zdroj: | Journal of Pediatric Surgery. 54:1926-1928 |
| ISSN: | 0022-3468 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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