Quadrivalvar Replacement in Infantile Marfan Syndrome

Strigl, Sebastian; Quagebeur, J.M.; Gersony, Welton M.

doi:10.1007/s00246-006-0066-4

Cited by 24 publications

(21 citation statements)

References 11 publications

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“…Although both are autosomal dominant, approximately 75.0% of classical MFS cases are inherited, whereas eoMFS is predominantly sporadic. While only two cases of familial eoMFS were reported in the literature, one of these cases was reported from Turkey [ 7 , 8 ]. Although mutations have been observed along the entire length of the fibrillin-1 gene ( FBN1 ) in classical MFS, mutations in eoMFS cluster in a relatively small region of FBN1 , usually between exons 24 and 32 [ 1 , 3 – 5 ].…”

Section: Discussionmentioning

confidence: 99%

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Özyurt

Baykan

Argun

et al. 2015

Balkan Journal of Medical Genetics

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Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

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Section: Discussionmentioning

confidence: 99%

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Özyurt

Baykan

Argun

et al. 2015

Balkan Journal of Medical Genetics

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“…In a meta-analysis of 86 patients with earlyonset MFS, Strigl et al noted the mean age of death as 16.3 months in their patient population. 20 Medical therapy of heart failure from chronic severe mitral regurgitation is often reported to be unsuccessful to control the symptoms. 21 Surgical repair of the mitral valve in MFS is often difficult due to severe myxomatous changes in the valve leaflets.…”

Section: Discussionmentioning

confidence: 99%

Early-Onset Marfan Syndrome: A Case Series

2018

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Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene “hotspot” region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.

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“…Both mitral valve repair and/or replacement can be an option for surgical treatment; however, the outcome data on valve surgery are limited in patients with infantile MFS. Furthermore, there is a high probability of mortality and morbidity including complete heart block, thrombosis, and stroke after valve surgery 25 26 27) . In our study, three patients died despite MVR.…”

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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Quadrivalvar Replacement in Infantile Marfan Syndrome

Cited by 24 publications

References 11 publications

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

Early-Onset Marfan Syndrome: A Case Series

Infantile Marfan syndrome in a Korean tertiary referral center

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