ACTA2 mutations are responsible for disease in approximately 20% of families with thoracic aortic aneurysms and dissections(TAAD). Dr. Milewicz directs the John Ritter Research Program and her research group identified ACTA2 as a gene that causes TAAD in 2009. The Milewicz group has now published an analysis of clinical data collected from a large group of people (close to 300) who have ACTA2 mutations. This information is important in medical management of patients with ACTA2 mutations. The publication can be accessed by clicking on the article “Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations” available here.
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Your generosity helps us support families with aortic disease, identify new genes and pathways that cause this condition, and develop guidelines to improve the survival of patients. This year your support helped researchers from the John Ritter Research Program publish a total of 21 papers in peer reviewed journals, listed below. Thank you for your support.
1. MFAP5 Loss‐of‐Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet. 2014 Dec 4;95(6):736‐43.
2. Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity. J Biomech. 2014 Nov 1. pii: S0021‐9290(14)00552‐1.
3. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014 Nov;45(11):3200‐7.
4. Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there? J Thorac Cardiovasc Surg.2014 Aug 5. pii: S0022‐5223(14)01043‐5.
5. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol. 2014 Aug 26;64(8):832‐9.
6. Aortic dilatation with bicuspid aortic valve. N Engl J Med. 2014 Aug 14;371(7):683.
7. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 2014 Jun 24;129(25):2691‐704.
8. Essential Hypertension vs. Secondary Hypertension Among Children. Am J Hypertens. 2015 Jan;28(1):73‐80.
9. Cell biology. Dysfunctional mechanosensing in aneurysms. Science. 2014 May 2;344(6183):477‐9.
10. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features. FASEB J. 2014 Aug;28(8):3313‐24.
11. Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament‐associated proteins in vascular smooth muscle cells. J Biol Chem. 2014 May 16;289(20):14075‐88.
12. Aortic Valve Operative Outcomes in Marfan Patients Study Group. Early and 1‐year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. J Thorac Cardiovasc Surg. 2014 Jun;147(6):1758‐66, 1767.e1‐4.
13. Molecular diagnosis in vascular Ehlers‐Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014 Jul;60(1):160‐9.
14. Vascular Ehlers‐Danlos syndrome: exploring the role of inflammation in arterial disease. Circ Cardiovasc Genet. 2014 Feb;7(1):5‐7.
15. Surgical treatment of bicuspid aortic valve disease: knowledge gaps and research perspectives. J Thorac Cardiovasc Surg. 2014 Jun;147(6):1749‐57, 1757.e1.
16. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014 Mar 3;124(3):1329‐39.
17. Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms. Atherosclerosis. 2014 Feb;232(2):361‐8.
18. IL‐6 regulates extracellular matrix remodeling associated with aortic dilation in a fibrillin‐1 hypomorphic mgR/mgR mouse model of severe Marfan syndrome. J Am Heart Assoc. 2014 Jan 21;3(1):e000476.
19. Acute aortic dissections with pregnancy in women with ACTA2 mutations. Am J Med Genet A. 2014 Jan;164A(1):106‐12.
20. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends Cardiovasc Med. 2014 Feb;24(2):53‐60.
21. Single‐nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014 Jan;16(1):53‐9.
Dianna M. Milewicz, MD, PhD and Frank R. Arko III, MD talk about raising awareness for aortic disease and the future of research on this disease. They reiterate the goals of the John Ritter Foundation for Aortic Health and discuss the diagnosis of aortic disease in both non-emergency and emergency settings. Read this insightful article here.
Amy Yasbeck is this year’s recipient of the 2014 Aortic Disease Advocacy Award for her work in establishing the John Ritter Foundation for Aortic Health. The University of Kentucky Aortic Program created the award to honor individuals who have raised awareness of diagnosis, treatment and prevention of aortic diseases. The awardees will be honored at the University of Kentucky 2014 Aortic Symposium Dinner on September 5, 2014.
The John Ritter Foundation (JRF) announced it was selected as an official charity of the TCS New York City Marathon to take place on Sunday, November 2, 2014. What a great opportunity to increase awareness of thoracic aortic disease, as well as raise funds to support education and research!
The JRF is currently recruiting runners to join Team Ritter. For more information or to sponsor the team, please read the announcement on the JRF website.
Congratulations, John Ritter Foundation!!