Neonatal Marfan Syndrome: Improving the Bad Prognosis with a Strict Conservative Treatment with Carvedilol?

Buchhorn, Reiner; Kertess-Szlaninka, Tuende; Dippacher, Sonja; Hulpke-Wette, Martin

doi:10.4236/ojts.2014.42010

Cited by 4 publications

(2 citation statements)

References 8 publications

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“…In pediatric MFS patients, beta blockers are known to delay cardiac interventions. However, in infant MFS patients, the benefits of using beta blocker are not known 3 23 24) . Infants with MFS who have atrioventricular valve insufficiencies usually require digoxin and/or diuretics to prevent congestive heart failure; this was similar to the requirement in our patients.…”

Section: Discussionmentioning

confidence: 99%

Infantile Marfan syndrome in a Korean tertiary referral center

et al. 2016

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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.

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Section: Discussionmentioning

confidence: 99%

Infantile Marfan syndrome in a Korean tertiary referral center

et al. 2016

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“…We found a total of 20 cases that have been reported in 16 studies (Table ). 3,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] Various surgical procedures such as mitral valvuloplasty (31%), MVR (26%), mitral annu- loplasty (11%), tricuspid annuloplasty (9%), tricuspid valvuloplasty (9%), tricuspid valve replacement (6%), valvesparing aortic root replacement (3%), Bentall procedure (3%), and repair of mitral chordae tendineae rupture (3%) were performed in these cases. In these cases, 11 (55%) patients were female, and the average age at surgery was 20 months (range, 1 month to 7 years).…”

Section: Case Reportmentioning

confidence: 99%

Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the <i>FBN1</i> Gene

et al. 2022

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Marfan syndrome is an autosomal dominant genetic disorder of the fibrous connective tissue caused by pathogenic mutations in the fibrillin-1 gene. Neonatal Marfan syndrome is a rare type of Marfan syndrome that is genotypically and phenotypically different from classical Marfan syndrome and has a poor prognosis. Most patients with neonatal Marfan syndrome die during infancy due to severe and rapidly progressive cardiovascular disorders. Here, we present a case of an 11-year-old girl with neonatal Marfan syndrome due to a novel missense mutation in exon 27 of the fibrillin-1 gene. Her condition was critical due to progressive mitral and tricuspid regurgitation. Mitral valve replacement, performed at the age of 6 months, improved her critical condition. Our case suggests that early mitral valve replacement may lead to better outcomes in patients with neonatal Marfan syndrome.

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