RESOURCES

 

  1. Familial TAAD - Genetics Home Reference - NIH. (2019, February 5). Retrieved from https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection#genes
  2. 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(5):617-27. 
  3. ACTA2 gene - Genetics Home Reference - NIH. (2019, February 5). Retrieved from https://ghr.nlm.nih.gov/gene/ACTA2#resources 
  4. Patent Ductus Arteriosus (PDA). (n.d.). Retrieved from https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/patent-ductus-arteriosus-pda 
  5. Aortopulmonary window: MedlinePlus Medical Encyclopedia. (2019, January 28). Retrieved from https://medlineplus.gov/ency/article/007319.htm 
  6. Roulez, F. M., Faes, F., Delbeke, P., Van, P., Rodesch, G., De, J., . . . Meire, F. M. (2014, June). Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/24621862 
  7. Pulmonary Hypertension. (n.d.). Retrieved from https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/pulmonary-hypertension/ 
  8. Cerebrovascular Disease. (n.d.). Retrieved from https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Cerebrovascular-Disease 
  9. Children's Hospital of Philadelphia. (2014, August 24). Intestinal Malrotation and Volvulus. Retrieved from https://www.chop.edu/conditions-diseases/intestinal-malrotation-and-volvulus 
  10. The portal for rare diseases and orphan drugs. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2573 
  11. Regalado, E. S., Mellor-Crummey, L., Backer, J. D., Braverman, A. C., Ades, L., Benedict, S., . . . Milewicz, D. M. (2018). Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genetics in Medicine,20(10), 1206-1215. doi:10.1038/gim.2017.245 
  12. Signs and Symptoms of Blood Clots. (n.d.). Retrieved from https://www.stoptheclot.org/learn_more/signs-and-symptoms-of-blood-clots/ 
  13. Small Bowel Obstruction. (n.d.). Retrieved from 
  14. Cuoco, J., Busch, C., Klein, B., Benko, M., Stein, R., Nicholson, A., & Marvin, E. (2018). ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. Cerebrovascular Diseases,46(3-4), 159-169. doi:10.1159/000493863 
  15. Genetic Aortic Disorders Association of Canada. ACTA2. Retrieved from http://www.gadacanada.ca/acta2/.
  16. Meuwissen, Marije & Lequin, Maarten & Bindels-de Heus, Karen & Brüggenwirth, Hennie & F.C.M. Knapen, Maarten & Dalinghaus, Michiel & De Coo, Irenaeus & Bever, Yolande & Winkelman, Beerend & Mancini, Grazia. (2013). ACTA2 Mutation With Childhood Cardiovascular, Autonomic and Brain Anomalies and Severe Outcome. American journal of medical genetics. Part A. 161. 10.1002/ajmg.a.35858.
  17. Morisaki, H. , Akutsu, K. , Ogino, H. , Kondo, N. , Yamanaka, I. , Tsutsumi, Y. , Yoshimuta, T. , Okajima, T. , Matsuda, H. , Minatoya, K. , Sasaki, H. , Tanaka, H. , Ishibashi‐Ueda, H. and Morisaki, T. (2009), Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Hum. Mutat., 30: 1406-1411. doi:
  18. Online Mendelian Inheritance in Man. ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2. Retrieved from https://www.omim.org/entry/102620.
  19. Georgescu, M., Pinho, M. D., Richardson, T. E., Torrealba, J., Buja, L. M., Milewicz, D. M., . . . Burns, D. K. (2015). The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. Acta Neuropathologica Communications,3(81). doi:10.1186/s40478-015-0262-7

 

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*This content is not intended as a substitute for professional medical advice, diagnosis, or treatment. Should you require medical advice, please contact a qualified medical professional who is familiar with Multisystemic Smooth Muscle Dysfunction Syndrome.

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