Cardiac Transplantation in Neonatal Marfan Syndrome - A Life-Saving Approach

2005 ◽  
Vol 53 ◽  
pp. S146-S148 ◽  
Author(s):  
T. Krasemann ◽  
S. Kotthoff ◽  
H.-G. Kehl ◽  
V. Debus ◽  
T. D. T. Tjan ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Cardiac Transplantation ◽  
Life Saving ◽  
Neonatal Marfan Syndrome

scholarly journals Concurrent End-Stage Cardiomyopathy and Aortic Disease in Patients with Marfan Syndrome: A Case Report and Literature Review

2021 ◽  
Author(s):  
Timothy Smith ◽  
Jose Sleiman ◽  
Nikita Zadneulitca ◽  
Cedric Sheffield ◽  
Viviana Navas ◽  
...  
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Literature Review ◽  
Marfan Syndrome ◽  
Aortic Disease ◽  
Connective Tissue Disorder ◽  
Orthotopic Heart Transplantation ◽  
Bentall Procedure ◽  
Life Saving ◽  
End Stage

Abstract Background: Marfan syndrome (MFS) is a connective tissue disorder that can lead to aortic disease, arrhythmias and heart failure. Many centers are reluctant to offer orthotopic heart transplantation (OHT) for patients with MFS with concurrent aortic disease due to complexity of the surgery and perceived inferior results when compared to patients without MFS. Methods: We present a case of a patient with MFS with previous Bentall procedure who underwent successful OHT, accompanied by a literature review on OHT performed for patients with MFS. Results and Conclusions: Patients with MFS who underwent OHT had no difference in mortality compared to patients without MFS. Even though OHT is technically more challenging when combined with concurrent intervention for aortic disease, it should be considered as a life-saving operation for patients with MFS.

scholarly journals A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Elliott J. Carande ◽  
Samuel J. Bilton ◽  
Satish Adwani
Keyword(s):  
Marfan Syndrome ◽  
Surgical Intervention ◽  
Rare Condition ◽  
Mitral Valve Regurgitation ◽  
Left Ventricular ◽  
Cardiac Complications ◽  
Chromosome 15 ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

2004 ◽  
Vol 128A (4) ◽  
pp. 418-421 ◽  
Author(s):  
Charlotte M. Whitelaw ◽  
Samira Anwar ◽  
Lesley C. Adès ◽  
Glen A. Gole ◽  
James E. Elder ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Neonatal Marfan Syndrome

Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement

2021 ◽  
pp. 1-4
Author(s):  
Junpei Kawamura ◽  
Kentaro Ueno ◽  
Yoshifumi Kawano
Keyword(s):  
Marfan Syndrome ◽  
Valve Replacement ◽  
Tricuspid Valve ◽  
Rare Condition ◽  
Missense Variant ◽  
Tricuspid Valve Replacement ◽  
Genetic Syndrome ◽  
Fibrillin 1 ◽  
Valve Insufficiency ◽  
Neonatal Marfan Syndrome

Abstract Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

scholarly journals Aggressive Aortopathy in neonatal Marfan syndrome

2019 ◽  
Vol 3 (1) ◽  
Author(s):  
Laura D’Addese ◽  
Rukmini Komarlu ◽  
Kenneth Zahka
Keyword(s):  
Marfan Syndrome ◽  
Neonatal Marfan Syndrome

Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

1999 ◽  
Vol 55 (2) ◽  
pp. 110-117 ◽  
Author(s):  
Patrick Booms ◽  
Jason Cisler ◽  
Kurt R. Mathews ◽  
Maurice Godfrey ◽  
Frank Tiecke ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Hot Spots ◽  
Exon Skipping ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome ◽  
Novel Exon

scholarly journals Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

1996 ◽  
Vol 33 (9) ◽  
pp. 760-763 ◽  
Author(s):  
M Wang ◽  
P Kishnani ◽  
M Decker-Phillips ◽  
S G Kahler ◽  
Y T Chen ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Double Mutant ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1994 ◽  
Vol 6 (1) ◽  
pp. 64-69 ◽  
Author(s):  
Katariina Kainulainen ◽  
Leena Karttunen ◽  
Lea Puhakka ◽  
Lynn Sakai ◽  
Leena Peltonen
Keyword(s):  
Marfan Syndrome ◽  
Ectopia Lentis ◽  
Neonatal Marfan Syndrome

Neonatal Marfan Syndrome

2001 ◽  
Vol 20 (3) ◽  
pp. 235-239
Author(s):  
Ruey-Kang R. Chang ◽  
Henry J. Lin ◽  
Michael C. Fishbein
Keyword(s):  
Marfan Syndrome ◽  
Neonatal Marfan Syndrome
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