TITLE

Marfan's syndrome and the heart

AUTHOR(S)
Stuart, Alan Graham; Williams, Andrew
PUB. DATE
April 2007
SOURCE
Archives of Disease in Childhood;Apr2007, Vol. 92 Issue 4, p351
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
In recent years, there have been many advances in the treatment of cardiac disease in children with Marfan's syndrome. Early diagnosis, meticulous echocardiographic follow-up and multidisciplinary assessment are essential. Medical treatment with β-blockers is probably helpful in most children with aortic root dilatation. Research on TGFβ signalling and the potential treatment role of TGFβ antagonists may lead to exciting new treatments, but the results of clinical trials are awaited. In managing the cardiovascular complications of Marfan's syndrome, the paediatrician has to walk a difficult path. On the one hand, restrictive lifestyle advice and drugs may need to be prescribed, often in the context of a family history of major surgery or even sudden death. On the other hand, it is essential to encourage the often asymptomatic child to develop and mature as normally as possible.
ACCESSION #
25020991

 

Related Articles

  • Outcome of aortic surgery in patients with Loeys–Dietz syndrome primarily treated as having Marfan syndrome†. Schoenhoff, Florian S.; Mueller, Christoph; Czerny, Martin; Matyas, Gabor; Kadner, Alexander; Schmidli, Juerg; Carrel, Thierry // European Journal of Cardio-Thoracic Surgery;Sep2014, Vol. 46 Issue 3, p444 

    OBJECTIVES Loeys–Dietz syndrome (LDS) is characterized by acute aortic dissection (AAD) at aortic diameters below thresholds for intervention in patients with Marfan syndrome (MFS). The aim was to evaluate the outcome of LDS patients primarily treated as having MFS. METHODS We analysed 68...

  • Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.RS37P in the TGFBR2 gene. Kılıc, Esra; Alanay, Yasemin; Ütine, Eda; Özgen-Mocan, Burçe; Robinson, Peter N.; Boduroğlu, Koray // Turkish Journal of Pediatrics;Mar/Apr2012, Vol. 54 Issue 2, p198 

    We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome...

  • The Loeys-Dietz syndrome.  // Archives of Disease in Childhood;Feb2007, Vol. 92 Issue 2, p119 

    The article discusses the nature and causes of Loeys-Dietz syndrome. The disease was known to be an autosomal dominant syndrome which is described by aortic and peripheral aneurysms and arterial contortion, bifid uvula or cleft palate and hypertelorism. It is caused by gene mutations for the...

  • Dysregulation of TGF-B activation contributes to pathogenesis in Marfan syndrome. Neptune, Enid R.; Frischmeyer, Pamela A.; Arking, Dan E.; Myers, Loretha; Bunton, Tracie E.; Gayraud, Barbara; Ramirez, Francesco; Sakai, Lynn Y.; Dietz, Harry C. // Nature Genetics;Mar2003, Vol. 33 Issue 3, p407 

    Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils. A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement,...

  • TGF-β1 and TIMP-4 regulate atrial fibrosis in atrial fibrillation secondary to rheumatic heart disease. Sun, Yu; Huang, Zi-Yang; Wang, Zhen-Hua; Zhang, Yun-Jiao; Su, Feng; Ma, Nan; Li, Cui-Ping; Meng, Xian-Liang // Molecular & Cellular Biochemistry;Aug2015, Vol. 406 Issue 1/2, p131 

    To investigate the involvement of transforming growth factor-β1 (TGF-β1) and tissue inhibitor of metalloproteinase 4 (TIMP-4) in influencing the severity of atrial fibrosis in rheumatic heart disease (RHD) patients with atrial fibrillation (AF). The degree of myocardial fibrosis was...

  • Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension. Schievink, Wouter I.; Gordon, Ora K.; Hyland, James C.; Ala-Kokko, Leena // Journal of Headache & Pain;Apr2008, Vol. 9 Issue 2, p99 

    A heritable connective-tissue-disorder often is suspected in patients with spontaneous spinal CSF leaks and intracranial hypotension, but the nature of the disorder remains unknown in most patients. The aim of this study was to assess the gene encoding TGF-β receptor-2 ( TGFBR2) as a...

  • Biventricular and atrial diastolic function assessment using conventional echocardiography and tissue-Doppler imaging in adults with Marfan syndrome†. Kiotsekoglou, Anatoli; Moggridge, James C.; Bijnens, Bart H.; Kapetanakis, Venediktos; Alpendurada, Francisco; Mullen, Michael J.; Saha, Samir; Nassiri, Dariush K.; Camm, John; Sutherland, George R.; Child, Anne H. // European Journal of Echocardiography;Dec2009, Vol. 10 Issue 8, p947 

    Aims: Previous studies provided evidence about left ventricular systolic and diastolic dysfunction in adults with Marfan syndrome (MFS). However, in the literature, data on right ventricular and bi-atrial diastolic function are limited. We aimed to investigate whether, in the absence of...

  • Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. Disabella, Eliana; Grasso, Maurizia; Marziliano, Nicola; Ansaldi, Silvia; Lucchelli, Claudia; Porcu, Emanuele; Tagliani, Marilena; Pilotto, Andrea; Diegoli, Marta; Lanzarini, Luca; Malattia, Clara; Pelliccia, Antonio; Ficcadenti, Anna; Gabrielli, Orazio; Arbustini, Eloisa // European Journal of Human Genetics;Jan2006, Vol. 14 Issue 1, p34 

    TGF-β-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with negative fibrillin-1 (FBN1) gene screening. Four mutations have been identified to date in five unrelated families. We screened TGFBR2 gene...

  • Fibrillin controls TGF-B activation. Kaartinen, Vesa; Warburton, David // Nature Genetics;Mar2003, Vol. 33 Issue 3, p331 

    Secreted transforming growth factori-βs (TGF-βs) are rendered biologically inactive by binding proteins that also target and concentrate them to the extracellular matrix. Specific, but still poorly understood, activation is required for disassembly of the extracellular matrix-bound protein...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics