Infantile Marfan syndrome in a Korean tertiary referral center.
- Author:
Yeon Jeong SEO
1
;
Ko Eun LEE
;
Gi Beom KIM
;
Bo Sang KWON
;
Eun Jung BAE
;
Chung Il NOH
Author Information
- Publication Type:Original Article
- Keywords: Marfan syndrome; Mitral valve insufficiency; Newborn infant
- MeSH: Connective Tissue; Diagnosis; Early Diagnosis; Echocardiography; Follow-Up Studies; Heart Failure; Humans; Infant, Newborn; Korea; Marfan Syndrome*; Mitral Valve; Mitral Valve Insufficiency; Mortality; Parturition; Prognosis; Retrospective Studies; Sequence Analysis, DNA; Tertiary Care Centers*; Tricuspid Valve Insufficiency; Tricuspid Valve Prolapse
- From:Korean Journal of Pediatrics 2016;59(2):59-64
- CountryRepublic of Korea
- Language:English
- Abstract: PURPOSE: Infantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea. METHODS: Eight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated. RESULTS: Their median age at the time of diagnosis was 2.5 months (range, 0-20 months). The median follow-up period was 25.5 months (range, 0-94 months). The median length at birth was 50.0 cm (range, 48-53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5-69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months. CONCLUSION: The prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.
