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.
Thank you to the Omaha World-Herald for this powerful story of how medical education and process change saved a life. Thank you, Nebraska Methodist Health System, our TAD Coalition partner, for your efforts to educate your medical team on aortic dissection! Read the story here.
Tim Ealer’s father, George, passed away due to complications of an aortic dissection. Since then, Tim has learned that this disease can run in families. He spoke with a reporter about his dad and the importance of screening (aortic imaging) if you have a family history of thoracic aortic aneurysm and/or dissection. Watch the interview here: Tim Ealer on 41 Today (NBC/WMGT).
Learn more here: What Is Aortic Disease?
Many people contact the John Ritter Foundation for Aortic Health and the John Ritter Research Program looking for support groups. Unfortunately, very few currently exist. We would like to identify existing groups and facilitate new groups. If you are interested in finding a support group or know of an existing group, please complete this survey which will be available through December 3, 2013: https://docs.google.com/forms/d/1YO3sKI8Lu2V4z49kq-1fh4wfI-7XGAhaoFoM-4JmEWU/viewform
On November 3, twenty-two Team Ritter runners ran the ING NYC Marathon on behalf of the John Ritter Foundation for Aortic Health and earned Finisher medals. Although this was not the first time some of the runners had completed a marathon, it may have been the most meaningful for them. Why? Because this race was only one milestone among many during their journey to the marathon.
Over the last five months, Team Ritter’s 2013 ING New York City Marathon running team has informed hundreds of people about thoracic aortic disease by sharing their stories at health fairs, during media interviews, at fundraising events, and by talking to anyone who would listen. To date, they have raised over $114,000 so we can inform and educate the public and medical professionals about thoracic aortic disease, provide support to individuals and families affected by aortic disease, and fund research. And they have done all this while training for a marathon!
We are very proud of this team. Please join us in congratulating Team Ritter on a job well done!
HOUSTON – (Oct. 9, 2013) – Friends and family members of people with thoracic aortic disease and fans of the late legendary comedic actor John Ritter will come together as Team Ritter to raise funds for the John Ritter Foundation for Aortic Health (JRF) at the ING New York City Marathon on Nov. 3, 2013.
“We are so proud and grateful to again be one of the official charities of this year’s NYC Marathon and have the opportunity to raise much-needed funds for lifesaving research and education,” said actress, writer and aortic health advocate Amy Yasbeck, the widow of Ritter, who died from an acute aortic dissection in 2003. “Team Ritter runners are passionate about increasing awareness of aortic dissection and its risk factors and are committed to raising funds to support the JRF.”
Funds from the NYC Marathon raised for the JRF will go to the John Ritter Research Program in Aortic and Vascular Diseases (JRRP) at The University of Texas Health Science Center at Houston (UTHealth) to support research to identify genetic risks for aortic dissections. To donate, visit Edward Norton’s Crowdrise online fundraising community: www.crowdrise.com/TeamRitterINGNYCMarathon2013.
“The funds raised by Team Ritter will allow us to continue our genetic research to identify genes or altered DNA that increases someone’s risk for an acute aortic dissection. By identifying who is at risk, we can prevent premature deaths due to aortic dissections,” said Dianna Milewicz, M.D., Ph.D., director of UTHealth’s John Ritter Research Program. “It will also help us spread information to both physicians and the public about symptoms and genetic risk factors for aortic dissections, including the fact that this condition can run in families.” Milewicz is professor and George H. W. Bush Chair in Cardiovascular Research in the Division of Medical Genetics at the UTHealth Medical School.
Fundraising Websites – Crowdrise
Read more and meet the team:
Survivors of Aortic Dissection Support Group Meetings Scheduled in Ridgewood, New Jersey in October and December 2013
It can be difficult to find others to talk to who understand what an aortic dissection survivor has been through. The John Ritter Research program is pleased to pass along information about future group meetings that a Nurse Practitioner has organized in New Jersey. (more…)
HOUSTON – (Aug. 7, 2013) – A multi-institutional team led by Dianna Milewicz, M.D., Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) has found a recurrent genetic mutation that has been linked to deadly thoracic aortic dissections in family members as young as 17 years of age.
The gene known as PRKG1 makes a protein called cGMP-dependent kinase, type I. The PRKG1 mutation alters the function of the protein and causes the muscle cells in the wall of the aorta to respond incorrectly to pulsatile blood flow from the heart, and the change in this one protein ultimately causes thoracic aortic aneurysm and acute aortic dissection. The mutation was identified in four families, including three in the United States. The majority of the affected family members suffered acute aortic dissections at young ages (17 to 51 years). (more…)
It can be difficult to find others to talk to who understand what aortic disease is like. The John Ritter Research Program is pleased to pass along information about a support group meeting organized by a survivor of aortic dissection in Michigan. Everyone that has been affected by aortic disease is welcome to attend and support each other. Here are the details: (more…)