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Infantile Marfan syndrome in a Korean tertiary referral center
Yeon Jeong Seo1, Ko-Eun Lee1, Gi Beom Kim1
1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
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.
Insights
Infantile Marfan syndrome (MFS) is a serious genetic disorder affecting connective tissue. Early diagnosis and treatment are crucial for managing cardiovascular issues and improving the poor prognosis in affected infants.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Infantile Marfan syndrome (MFS) is a rare, inherited connective tissue disorder with a significant impact on cardiovascular health.
- Early-onset MFS presents unique challenges in diagnosis and management due to its rapid progression.
Purpose of the Study:
- To evaluate the cardiovascular manifestations and overall prognosis of infantile MFS.
- To identify key diagnostic and prognostic indicators in a Korean cohort.
Main Methods:
- Retrospective analysis of eight patients diagnosed with infantile MFS between 2004 and 2014.
- Clinical data, echocardiographic findings, and genetic analysis (fibrillin 1 gene) were reviewed.
Main Results:
- Patients exhibited significant growth acceleration and aortic root dilation (z score >2).
- All patients had mitral and tricuspid valve prolapse with regurgitation, necessitating surgical intervention (mitral valve replacement) in five.
- Congestive heart failure was common, and four patients died by a median age of 12 months.
Conclusions:
- Infantile MFS carries a poor prognosis, characterized by severe cardiovascular complications.
- Timely diagnosis and proactive management are essential to mitigate morbidity and mortality.
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