New fibrillin gene mutation - possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results

Dudra, Jan; Lindner, Jaroslav; Vanĕk, I; Šímová, Jana; Mazura, I; Miler, I.; Čiháková, Jana; Capek, P; Belák, Josef

doi:10.1055/s-0031-1278335

Cited by 3 publications

(3 citation statements)

References 7 publications

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“…[4] Aortic root dilatation is a known finding in Marfan syndrome, which results from a mutation in the fibrillin-1 gene. [5] However, there are additional reports of aortic root dilatation with fibrillin-2 mutation, particularly in patients with bicuspid aortic valves. [56] One study reported aortic root dilatation in a patient with fibrillin-2 mutation and clinical features of both congenital contractural arachnodactyly and Marfan syndrome persisting through 5 years of age.…”

Section: Discussionmentioning

confidence: 99%

“…[5] However, there are additional reports of aortic root dilatation with fibrillin-2 mutation, particularly in patients with bicuspid aortic valves. [56] One study reported aortic root dilatation in a patient with fibrillin-2 mutation and clinical features of both congenital contractural arachnodactyly and Marfan syndrome persisting through 5 years of age. [7] The finding of aortic root dilatation in our patient with Beals syndrome and confirmed fibrillin-2 mutation is unique because the extracardiac findings typically associated with Loeys–Dietz and Marfan syndromes are absent in our patient.…”

Section: Discussionmentioning

confidence: 99%

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Persistent great artery dilatation in Beals syndrome: A novel finding

Siddiqui

Panesar

2019

Ann Pediatr Card

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We report a unique case of dilated aortic root and pulmonary artery in an infant with clinical features consistent with Beals syndrome confirmed to have fibrillin-2 mutation. This case highlights a novel finding of main pulmonary artery dilatation that has not been previously reported with Beals syndrome or fibrillin-2 mutation. In addition, the importance of serial echocardiography and consideration of medical management is discussed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Persistent great artery dilatation in Beals syndrome: A novel finding

Siddiqui

Panesar

2019

Ann Pediatr Card

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“…The sequence figure in the article (Figure 3 in Dudra et al [1]) shows that the C insertion is homozygous. We believe this is additional evidence showing that the C insertion is an artefact of the primer.…”

Section: Dear Editorsmentioning

confidence: 99%

Letter to the editor and rebuttal from authors

Dudra¹,

Arno²,

Comeglio³

et al. 2010

Int J Angiol

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Serum Levels of Matrix Metalloproteinases 2 and 9 and TGFBR2 Gene Screening in Patients with Ascending Aortic Dilatation

Šímová,

Škvor,

Reissigová

et al. 2013

Fol. Biol.

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Development of ascending aortic dilatation (AAD) in about 10 % of patients operated for aortic valve disease (AVD) is probably based on intrinsic pathology of the aortic wall. This may involve an abnormality in the process of extracellular matrix remodelling. The present study evaluated the serum levels of specific metalloproteinases (MMP-2 and MMP-9) and investigated the gene for transforming growth factor receptor 2 (TGFBR2) in 28 patients with AVD associated with AAD (mean age 60.6 years), in 29 patients (68.9 years) with AVD without AAD, and in 30 healthy controls (45.3 years). The serum levels of MMPs were determined by ELISA. Further, we focused on genetic screening of the TGFBR2 gene. Plasma MMP-2 concentrations were significantly higher in the groups of patients compared to the controls: median 1315.0 (mean 1265.2 ± SD 391.3) in AVD with AAD, 1240.0 (1327.8 ± 352.5) in AVD without AAD versus 902.5 (872.3 ± 166.2) ng/ml in the healthy controls, in both cases P < 0.001. The serum levels of MMP-9 were significantly higher in AVD with AAD patients [107.0 (202.3 ± 313.0)] and in AVD without AAD patients [107.0 (185.8 ± 264.3)] compared to the healthy controls [14.5 (21.2 ± 24.8) ng/ml], in both cases P < 0.001. No significant correlation was observed between plasma MMP-2 and MMP-9 and ascending aorta diameter. Genetic screening did not reveal any variation in the TGFBR2 gene in the patients. Measurement of MMP levels is a simple and relatively rapid laboratory test that could be used as a biochemical indicator when evaluated in combination with imaging techniques.

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New fibrillin gene mutation - possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results

Cited by 3 publications

References 7 publications

Persistent great artery dilatation in Beals syndrome: A novel finding

Persistent great artery dilatation in Beals syndrome: A novel finding

Letter to the editor and rebuttal from authors

Serum Levels of Matrix Metalloproteinases 2 and 9 and TGFBR2 Gene Screening in Patients with Ascending Aortic Dilatation

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