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ACTA2 – Associated Genetic Aortic Disease: Overview and Current Understanding from Research

This ACTA2 webinar was hosted in partnership with the Genetic Aortic Disorders Association Canada (GADA) and the John Ritter Foundation for Aortic Health (JRF). Dr. Dianna Milewicz, the leading ACTA2 expert shared what has been learned from her research work over the last 16 years. Her group first identified ACTA2 mutations as a cause of thoracic aortic aneurysms and dissections in 2007. 0:00 Introduction and information about GADA 3:25 Information about JRF and introduction of Dr. Milewicz 6:37 ACTA2 presentation by Dr. Milewicz 37:43 When should ACTA2 patients start beta blockers? How about children? 39:45 Should ACTA2 patients take beta blockers or losartan? 42:15 What type of genetic testing is needed if you or a family member has thoracic aortic disease? 44:40 Participating in research 45:53 How does ACTA2 cause pulmonary hypertension? 48:50 Discussion of potential drug treatment for cerebrovascular and lung disease 50:48 What are symptoms of TIA? 51:15 If you do not have the ACTA2 variant that runs in your family are you still at risk for dissection? 52:05 What type of imaging is needed for ACTA2? 52:58 How does ACTA2 cause TIAs? 55:30 Which ACTA2 patients should be taking statins? 59:56 What age should you test and image children in families with ACTA2? 1:02:00 How do you know what mutation you have? 1:06:55 What if you don't have a genetic diagnosis? 1:08:45 Are congenital heart defects more common with ACTA2? 1:11:11 What screening is recommended with the ACTA2 R149C mutation? 1:12:38 Is hereditary alpha tryptasemia related to ACTA2? 1:13:45 Is ACTA2 a connective tissue disease? Disclaimer: the content within the virtual event or the GADA and JRF websites, are for educational purposes only and should not replace necessary consultations with qualified health care professionals for medical advice, diagnosis, or treatment.