Christopher A Behr1, Naomi-Liza Denning1, Michelle P Kallis2, Caroline Maloney1, Samuel Z Soffer3, Angela Romano-Adesman4, Andrew R Hong3. 1. Department of Surgery, Zucker School of Medicine at Hofstra/Northwell, 300 Community Drive Manhasset, New York, United States, 11030. 2. Department of Surgery, Zucker School of Medicine at Hofstra/Northwell, 300 Community Drive Manhasset, New York, United States, 11030. Electronic address: mkallis@northwell.edu. 3. Department of Surgery, Zucker School of Medicine at Hofstra/Northwell, 300 Community Drive Manhasset, New York, United States, 11030; Division of Pediatric Surgery, Cohen Children's Medical Center of New York, Zucker School of Medicine at Hofstra/Northwell, 269-01 76th Ave, New Hyde Park, New York, United States 11040. 4. Department of Pediatrics, Cohen Children's Medical Center Of New York, Zucker School of Medicine at Hofstra/Northwell, 269-01 76th Ave, New Hyde Park, New York, United States 11040.
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.
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.
Authors: Ara S Media; Frank V de Paoli; Hans K Pilegaard; Anne-Mette Hvas; Peter Juhl-Olsen; Thomas D Christensen Journal: Ann Card Anaesth Date: 2022 Apr-Jun
Authors: Ara Shwan Media; Thomas Decker Christensen; Niels Katballe; Hans Kristian Pilegaard; Frank Vincenzo de Paoli Journal: J Thorac Dis Date: 2021-03 Impact factor: 2.895