초록접수 현황
| 17F-275 | 구연 발표 |
The Construction of Genetic Aortopathy Registry: Impact on Screening and Treatment of Family Members
Suk Jung Choo, Hee Jung Kim, Ho Jin Kim, Joon Bum Kim, Sung-Ho Jung, Cheol Hyun Chung, Jae Won Lee
Department of Thoracic and Cardiovascular Surgery, Asan Medical Center, Ulsan University College of Medicine, Seoul, Republic of Korea
Purpose : Genetic aortopathy (GA) (e.g. Marfan disease) are associated with an increased risk of fatal aorta-related events such as aortic dissection. The family members of the patient with GA, also may be at a high risk for such events and greatly befit from early screening for GA.
Methods : We established the institutional prospective registry dedicated to GA beginning in September 2016. All aortic disease patients visiting our institution were screened and potential candidates for GA were registered according to the screening protocol (Figure). After obtaining informed consent, screening for the family members of the registered patients were conducted.
Results : A total of 137 patients with GA were enrolled in the registry after screening 356 potential candidates: Marfan syndrome (n=130), Loeye Dietz syndrome (n=1) and ACTA2 mutation (n=6). After screening, a total of 333 family members were found to at a high risk for GA. Among them, 10 out of 25 family members who consented to screening were identified to have GA and registered; five (50%) of these patients received aortic surgery without major complications.
Conclusion : Our institutional experience suggests that more comprehensive managements are possible for the GA patients as well as their family members at high risks for GA with the use of a registry dedicated to GA to identify high-risk patients proactively and prevent the fatal aorta-related events by devising an optimal treatment plan in advance.
Methods : We established the institutional prospective registry dedicated to GA beginning in September 2016. All aortic disease patients visiting our institution were screened and potential candidates for GA were registered according to the screening protocol (Figure). After obtaining informed consent, screening for the family members of the registered patients were conducted.
Results : A total of 137 patients with GA were enrolled in the registry after screening 356 potential candidates: Marfan syndrome (n=130), Loeye Dietz syndrome (n=1) and ACTA2 mutation (n=6). After screening, a total of 333 family members were found to at a high risk for GA. Among them, 10 out of 25 family members who consented to screening were identified to have GA and registered; five (50%) of these patients received aortic surgery without major complications.
Conclusion : Our institutional experience suggests that more comprehensive managements are possible for the GA patients as well as their family members at high risks for GA with the use of a registry dedicated to GA to identify high-risk patients proactively and prevent the fatal aorta-related events by devising an optimal treatment plan in advance.
책임저자: Suk Jung Choo
Department of Thoracic and Cardiovascular Surgery, Asan Medical Center, Ulsan University College of Medicine, Seoul, Republic of Korea
발표자: Suk Jung Choo, E-mail : sjchoo@amc.seoul.kr