The Clinical Study on Marfan Syndrome

Kim, Jung Sim; Jin, Dong Kyu; Ko, See Hwan; Min, Jee Yeon; Kang, I-Seok; Jeon, Kye Won; Choi, Yung Lan; Lee, Heung Jae; Park, Seung Woo; Lee, Won Ro; Lee, Chong Suh; Oh, Sei Yeul; Ki, Chang Won; Yoo, Han Wook; Park, In Sook; Ko, Jae Kon

Original Article

Journal of the Korean Pediatric Society 1998;41(10):1411-1416.
Published online October 15, 1998.

The Clinical Study on Marfan Syndrome

Jung Sim Kim¹, Dong Kyu Jin¹, See Hwan Ko¹, Jee Yeon Min¹, I-Seok Kang², Kye Won Jeon³, Yung Lan Choi², Heung Jae Lee², Seung Woo Park⁴, Won Ro Lee⁴, Chong Suh Lee⁵, Sei Yeul Oh⁵, Chang Won Ki⁶, Han Wook Yoo⁶, In Sook Park⁶, Jae Kon Ko⁶

¹Department of Pediatrics, Sung Kyun Kwan University, College of Medicine, Seoul, Korea
²GUCH Clinic, Sung Kyun Kwan University, Collage of Medicine, Seoul, Korea
³Congenital and Metabolic Disorder Clinic, Sung Kyun Kwan University, Collage of Medicine, Seoul, Korea
⁴Department of Division of Cardiology, Sung Kyun Kwan University, Collage of Medicine, Seoul, Korea
⁵Department of Orthopedics, Sung Kyun Kwan University, Collage of Medicine, Seoul, Korea
⁶Department of Pediatrics, Asan Medical Center, Seoul, Korea

Marfan 증후군 환자의 임상적 고찰

김정심^¹^, 진동규^¹^, 고시환^¹^, 민지연^¹^, 강이석^²^, 전계원^³^, 최영란^²^, 이흥재^²^, 박승우^⁴^, 이원로^⁴^, 이종서^⁵^, 오세열^⁵^, 기창원^⁶^, 유한욱^⁶^, 박인숙^⁶^, 고재곤^⁶

^¹성균관대학교 의과대학 소아과학교실
^²심혈관센터 GUCH클리닉
^³삼성서울병원 선천성대사클리닉
^⁴성균관대학교 의과대학 순환기내과학교실, 심혈관센터 GUCH클리닉
^⁵성균관대학교 의과대학 정형외과학교실
^⁶울산대학교 의과대학 소아과학교실

Correspondence:
Heung Jae Lee, Email: 1

Abstract

Purpose
: The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed.
Methods
: Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases.
Results
: The musculoskeletal system was involved in 32 cases(84.2%) and occular system in 24 cases(63.1%). Cardiovascular abnormalities were found in 19 cases(50.0%) at initial evaluation. Family history was involved in 21 cases(55.2%). Ectopia lentis was found in 17 cases(70.8%). Severe myopia and iris abnormalities were also present in 14 cases(58.2%). The ascending aorta was dilated in 13 cases(34.2%). Emergency operation was performed in 3 cases(7.9%) because of a dissecting aorta. Mitral regurgitation and prolapse were found in 29 cases(76.4%) and other valve insufficiency was accompainied in 5 cases(13.1%). Of the 38 cases, 29 patients(79.3%) were less than 15 years of age and their major manifestations were occular problems in 23 cases (79.3%), and family history in 17 cases(58.6%). In one infant, severe heart failure was the predominant clinical feature.
Conclusion
: The clinical features of Korean patients with Marfan syndrome were summarized in this report. Heart failure was the main manifestaton in infantile Marfan syndrome. Early treatment with beta-blocker and valvular replacement can prevent fatality, i.e. aortic dissection, in this disease, concern and management should be advocated in the early detection of Marfan syndrome.

Key Words: Marfan syndrome