Infantile Marfan syndrome in a Korean tertiary referral center
PurposeInfantile 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.MethodsEight patients diagnos...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2016-02-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-59-59.pdf |
| _version_ | 1811312365976682496 |
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| author | Yeon Jeong Seo Ko-Eun Lee Gi Beom Kim Bo Sang Kwon Eun Jung Bae Chung Il Noh |
| author_facet | Yeon Jeong Seo Ko-Eun Lee Gi Beom Kim Bo Sang Kwon Eun Jung Bae Chung Il Noh |
| author_sort | Yeon Jeong Seo |
| collection | DOAJ |
| description | PurposeInfantile 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.MethodsEight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated.ResultsTheir 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.ConclusionThe prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality. |
| first_indexed | 2024-04-13T10:35:03Z |
| format | Article |
| id | doaj.art-a92ca4a036054393b201d1213d75b376 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-04-13T10:35:03Z |
| publishDate | 2016-02-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-a92ca4a036054393b201d1213d75b3762022-12-22T02:50:04ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582016-02-01592596410.3345/kjp.2016.59.2.5920125550514Infantile Marfan syndrome in a Korean tertiary referral centerYeon Jeong Seo0Ko-Eun Lee1Gi Beom Kim2Bo Sang Kwon3Eun Jung Bae4Chung Il Noh5Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.PurposeInfantile 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.MethodsEight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated.ResultsTheir 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.ConclusionThe prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.http://kjp.or.kr/upload/pdf/kjped-59-59.pdfMarfan syndromeMitral valve insufficiencyNewborn infant |
| spellingShingle | Yeon Jeong Seo Ko-Eun Lee Gi Beom Kim Bo Sang Kwon Eun Jung Bae Chung Il Noh Infantile Marfan syndrome in a Korean tertiary referral center Korean Journal of Pediatrics Marfan syndrome Mitral valve insufficiency Newborn infant |
| title | Infantile Marfan syndrome in a Korean tertiary referral center |
| title_full | Infantile Marfan syndrome in a Korean tertiary referral center |
| title_fullStr | Infantile Marfan syndrome in a Korean tertiary referral center |
| title_full_unstemmed | Infantile Marfan syndrome in a Korean tertiary referral center |
| title_short | Infantile Marfan syndrome in a Korean tertiary referral center |
| title_sort | infantile marfan syndrome in a korean tertiary referral center |
| topic | Marfan syndrome Mitral valve insufficiency Newborn infant |
| url | http://kjp.or.kr/upload/pdf/kjped-59-59.pdf |
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