All issues > Volume 41(10); 1998

Original Article

J Korean Pediatr Soc. 1998;41(10):1411-1416. Published online October 15, 1998.

The Clinical Study on Marfan Syndrome

Jung Sim JS Kim¹, Dong Kyu DK Jin¹, See Hwan SH Ko¹, Jee Yeon JY Min¹, I-Seok IS Kang², Kye Won KW Jeon³, Yung Lan YL Choi², Heung Jae HJ Lee², Seung Woo SW Park⁴, Won Ro WR Lee⁴, Chong Suh CS Lee⁵, Sei Yeul SY Oh⁵, Chang Won CW Ki⁶, Han Wook HW Yoo⁶, In Sook IS Park⁶, Jae Kon JK 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

Correspondence Heung Jae HJ 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.

Keywords :Marfan syndrome