Korean J Pediatr.  2016 Feb;59(2):59-64. 10.3345/kjp.2016.59.2.59.

Infantile Marfan syndrome in a Korean tertiary referral center

• Seo YJ
• Lee KE
• Kim GB
• Kwon BS
• Bae EJ
• Noh CI

• KMID: 2155924
• DOI: http://doi.org/10.3345/kjp.2016.59.2.59

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.

Keyword

Marfan syndrome; Mitral valve insufficiency; Newborn infant

MeSH Terms

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