The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities

被引:22
作者
Behr, Christopher A. [1 ]
Denning, Naomi-Liza [1 ]
Kallis, Michelle P. [1 ]
Maloney, Caroline [1 ]
Soffer, Samuel Z. [1 ,2 ]
Romano-Adesman, Angela [3 ]
Hong, Andrew R. [1 ,2 ]
机构
[1] Zucker Sch Med Hofstra Northwell, Dept Surg, 300 Community Dr, Manhasset, NY 11030 USA
[2] Zucker Sch Med Hofstra Northwell, Div Pediat Surg, Cohen Childrens Med Ctr New York, 269-01 76th Ave, New Hyde Pk, NY 11040 USA
[3] Zucker Sch Med Hofstra Northwell, Dept Pediat, Cohen Childrens Med Ctr New York, 269-01 76th Ave, New Hyde Pk, NY 11040 USA
关键词
Marfan; Pectus excavatum; Pectus carinatum; Cardiac defect; Chest Wall defect; Adolescent; MITRAL-VALVE-PROLAPSE; EXCAVATUM; EXPERIENCE; CHILDREN; REPAIR;
D O I
10.1016/j.jpedsurg.2018.11.017
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Purpose: The incidence of Marfan syndrome in the general population is 03%. 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 03% 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. (C) 2018 Elsevier Inc. All rights reserved.
引用
收藏
页码:1926 / 1928
页数:3
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