Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jan;2(1):73-82.
doi: 10.3978/j.issn.2225-319X.2012.12.01.

Genes in thoracic aortic aneurysms/dissections - do they matter?

Affiliations

Genes in thoracic aortic aneurysms/dissections - do they matter?

Julie De Backer et al. Ann Cardiothorac Surg. 2013 Jan.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Vascular involvement in Loeys-Dietz patients (A&B) and an aneurysm-osteoarthritis patient (C). A. MRA reconstruction of the aorta in a patient with Loeys-Dietz syndrome. Note the dilated ascending aorta distal to the aortic root prosthesis that was previously inserted (arrow), the tortuous aorta and the tortuous and ectatic iliac and head & neck arteries; B. MRA reconstruction of the intracerebral vessels of a 8 year old boy with Loeys-Dietz syndrome. Note the markedly tortuous vessels; C. CT angiographic picture of bilateral Iliac Artery aneurysms in a patient with aneurysm-osteoarthritis syndrome
Figure 2
Figure 2
Flow chart illustrating the clinical and genetic work-up of patients with TAAD. NGS, Next Generation Sequencing; FTAA, familial thoracic aortic aneurysm; TAA, thoracic aortic aneurysms
Figure 3
Figure 3
The TGFβ pathway and related vasculopathies. Following its release from the Extracellular Matrix, TGFβ binds to its type II cell surface receptor (TβRII), which recruits and phosphorylates the type I receptor (TβRI). TβRI then recruits and phosphorylates SMAD2 and/or SMAD3. These P-SMADs then bind to the common SMAD (co-SMAD) SMAD4 to form a heterodimeric complex. This complex enters the cell nucleus where it acts as a transcription factor for various TGFβ-dependent genes, such as connective tissue growth factor (CTGF), plasminogen activator inhibitor-1 (PAI-1) and multiple collagens

References

    1. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005;366:1965-76 - PMC - PubMed
    1. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98 - PubMed
    1. van der Linde D, van de Laar IM, Bertoli-Avella AM, et al. Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol 2012;60:397-403 - PubMed
    1. Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 2009;84:617-27 - PMC - PubMed
    1. Regalado E, Medrek S, Tran-Fadulu V, et al. Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. Am J Med Genet A 2011;155A:2125-30 - PMC - PubMed