EDS ECHO Summit Series: Vascular Ehlers-Danlos Syndrome – Day 2

Watch the recordings from Day 2 of our EDS ECHO Summit Series: Vascular Ehlers-Danlos Syndrome event

Welcome to Session 4 – Dr. Diana Johnson

Dr. Diana Johnson, Consultant Clinical Geneticist, is consultant in the EDS National Diagnostic Service (UK). In addition to her expertise in the evaluation of patients with Rare and Complex EDS, Dr. Johnson also has a specialist interest in the skeletal dysplasias and dysmorphology, which further complements her role.

Family Planning, Anticipating & Managing Pregnancy Complications – Dr. Melissa Russo

Melissa L. Russo is a specialist in maternal-fetal medicine (high-risk obstetrics) and clinical genetics. She currently works at Women and Infants Hospital, an affiliate of Warren Alpert Medical School at Brown University in Providence, Rhode Island. She pursued her residency in obstetrics and gynecology and fellowship training in maternal fetal medicine and clinical genetics at Johns Hopkins University School of Medicine in Baltimore, Maryland. Her current research is focused on the effects of pregnancy on the risk for aortic dissection, determining the risk factors for aortic dissection in pregnancy, and better characterizing obstetrical and cardiovascular outcomes for the mom and fetus during pregnancy. Her goals are to 1) empower women with these disorders with knowledge to allow them to make decisions and advocate about their reproductive choices and care during pregnancy and 2) educate health care providers on recognition and management of these disorders in pregnancy.

Pediatric Manifestations in vEDS – Dr. Shaine Morris

Shaine A Morris, MD, MPH, FAHA, FAAP, is pediatric cardiologist at Texas Children’s Hospital/Baylor College of Medicine in Houston, Texas. She is the Medical Director of the Cardiovascular Genetics Program and the Associate Program Director for Research of the Cardiology Fellowship at TCH. She has led the Aortopathy and Arteriopathy Program with Cardiovascular Genetics at TCH for the last 9 years, and follows a large number of children and young adults with Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome, Turner syndrome, and associated diseases. She also leads and collaborates in multiple multi-institutional research studies on outcomes in aortopathic disorders, sits on the Professional Advisory Board of the Marfan Foundation, and serves on the Executive Committee of the Montalcino Aortic Consortium. Her overarching focus is improving outcomes in people affected with genetically-mediated aortic disease.

School Adaptations for vEDS – Jared Griffin

Jared Griffin is the Founder & CEO of Annabelle’s Challenge, a UK registered charity supporting patients and families affected by Vascular Ehlers-Danlos syndrome. 
Jared’s daughter, Annabelle, was diagnosed with Vascular EDS in December 2012 aged 3, at that time she was the youngest to be diagnosed in the UK. Jared set up Annabelle’s Challenge in January 2013 and works closely with the EDS National Diagnostic Service. His role includes managing the charity, raising funds for research and providing management, support and advocacy for the vascular EDS community.

Community Panel: Conversation on Family Life With vEDS – Anne Barlow, Wanda Barlow, and Elise Perset

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Wanda Barlow

I am the mother of two adult children with vEDS. Their father died at age 49 after being diagnosed two years before by Peter Byers at the University of Washington. He had several major events before his death. Spenser and Annie have each had events. I am a retired RN and thankful that I can be an advocate for them.

Anne Barlow

My name is Annie Barlow. I was diagnosed with VEDS when I was 14, after my father died from complications of VEDS. In 2016, life altering complications with VEDS changed my life. I now live in Washington state with my husband, Jason, dogs Bernie and Murphy, and cat Paul Varjak.

Elise Perset

Elise is Franco-American and lives in the South of France near Montpellier. She has two young children: a girl who is 8 and a son who is 5. Her son was diagnosed with vEDS when he was 2.

Family Planning and Pregnancy Q&A

Welcome to Session 5 & 6 – Dr. Sherene Shalhub

Dr. Sherene Shalhub is a vascular surgeon, translational researcher at the University of Washington (UW), and the Director of the Multidisciplinary Vascular Genetics Clinic at the University of Washington Medical Center. She holds the position of Assistant Professor in the Department of Surgery and am an affiliate faculty of the Surgical Outcomes Research Center (SORCE). Her work aims to provide high quality care to patients suffering from rare vascular conditions such as Vascular Ehlers Danlos Syndrome. Her goal is to improve success of surgical repair and long-term survival for these high-risk patients while maintaining an excellent quality of life in a manner that is in line with their priorities and personal values. Dr. Shalhub is the lead investigator for the Vascular Ehlers-Danlos Collaborative funded by the Patient Centered Outcomes Research Institute (PCORI) and for the Vascular Ehlers-Danlos Collaborative Research Study.

Hematological Abnormalities in vEDS – Dr. Rohith Jesudas

Dr. Jesudas is the Staff Hematologist at the Bleeding & Clotting Disorders Institute. He completed his medical training at the Christian Medical College & Hospital in Vellore, India. Dr. Jesudas went on to be a Medical Officer in Singapore before moving to the United States in 2010 to pursue a residency in Pediatrics. He completed his residency and fellowship at the Children’s Hospital of Michigan, Detroit. Dr. Jesudas was awarded the Sanford N Cohen Resident of the Year Award in 2013. After completing his fellowship, Dr. Jesudas spent an additional year at the University of Michigan to further develop his expertise.

Dr. Jesudas is board certified in Pediatric Hematology/Oncology. His research interests include using Point of Care High Resolution Ultrasound to evaluate hemophilia patients with joint disease and creating a biorepository to better understand rare bleeding disorders.

Carotid, Vertebral, and Subclavian Arteries in vEDS – Dr. John Westley Ohman

I am an Assistant Professor in the Section of Vascular Surgery at Washington University School of Medicine. I received my Bachelor of Science from University of Texas, Doctorate in Medicine from University of Texas McGovern Medical School, and completed vascular surgery residency at Barnes-Jewish Hospital/Washington University School of Medicine. I joined the Section of Vascular Surgery after completing training, where I have a clinical and research practice focusing on the open, endovascular, and hybrid treatment of aortic disease.

Community Voices – Mike DeCoursey

Walking 4,000,000 steps to raise $40,000 for Vascular EDS in 2021 – Crisis Equals Opportunity – learn more at https://walkwithdeco.com/ 

 

Visceral Arteries in vEDS – Dr. Amani Politano

Dr. Politano is a Vascular Surgeon at OHSU, in Portland, OR.  Originally from Virginia, where she completed her medical school, surgery residency, and vascular surgery fellowship, she moved to Oregon with her husband and faithful border collie.

The Aorta and Iliac Arteries Pathology in vEDS  – Dr. Sherene Shalhub

Dr. Sherene Shalhub is a vascular surgeon, translational researcher at the University of Washington (UW), and the Director of the Multidisciplinary Vascular Genetics Clinic at the University of Washington Medical Center. She holds the position of Assistant Professor in the Department of Surgery and am an affiliate faculty of the Surgical Outcomes Research Center (SORCE). Her work aims to provide high quality care to patients suffering from rare vascular conditions such as Vascular Ehlers Danlos Syndrome. Her goal is to improve success of surgical repair and long-term survival for these high-risk patients while maintaining an excellent quality of life in a manner that is in line with their priorities and personal values. Dr. Shalhub is the lead investigator for the Vascular Ehlers-Danlos Collaborative funded by the Patient Centered Outcomes Research Institute (PCORI) and for the Vascular Ehlers-Danlos Collaborative Research Study.

Community Voices – Dominick Corso

Dominick Corso& was introduced to the rare disorder community in 2020. After a spontaneous emergency event in 2019, genetics testing showed a positive result for the diagnosis of Vascular Ehlers-Danlos Syndrome (VEDS). Dominick still considers himself a ‘beginner’ in the world of VEDS, but he finds great support and relief from participating in the VEDS support community.

Vascular Abnormalities in vEDS Q&A

Welcome to Session 7 – Dr. Xavier Jeunemaitre

Xavier Jeunemaitre received his MD and PhD in human genetics at the University P&M Curie, Paris France. He was trained as an internist and specialized in cardiology before being trained in molecular genetics at the College de France in Paris and in human genetics during a post-doctoral fellowship at the Institute of Human Genetics, Salt Lake City, University of Utah, USA. As a Professor in Genetics at Université de Paris (Descartes), he is in charge of the Department of Genetics at the Hospital Pompidou and a research team at the Paris Cardiovascular Research Centre, UMRS-970, Paris France. He has been appointed in 2019 as the Dean of the Faculty of Health of the Université de Paris. His main scientific interests are the genetic determinants of arterial hypertension and cardiovascular disorders, among them vascular Ehlers Danlos syndrome. Dr. Jeunemaitre authored or co-authored more than 300 peer-reviewed articles and chapters books.

Meds 4 vEDS Clinical Trial – Dr. Sherene Shalhub

Dr. Sherene Shalhub is a vascular surgeon, translational researcher at the University of Washington (UW), and the Director of the Multidisciplinary Vascular Genetics Clinic at the University of Washington Medical Center. She holds the position of Assistant Professor in the Department of Surgery and am an affiliate faculty of the Surgical Outcomes Research Center (SORCE). Her work aims to provide high quality care to patients suffering from rare vascular conditions such as Vascular Ehlers Danlos Syndrome. Her goal is to improve success of surgical repair and long-term survival for these high-risk patients while maintaining an excellent quality of life in a manner that is in line with their priorities and personal values. Dr. Shalhub is the lead investigator for the Vascular Ehlers-Danlos Collaborative funded by the Patient Centered Outcomes Research Institute (PCORI) and for the Vascular Ehlers-Danlos Collaborative Research Study.

vEDS Health-Related Quality of Life Study – Dr. Daphne Fulton

Dr. Daphne Fulton has over 30 years of experience in community health, health education, and in public health administration. She currently teaches at Sam Houston State University in Huntsville, Texas where she is the Bachelor of Science in Public Health Coordinator. She has a grandson with vascular Ehlers-Danlos syndrome and is dedicated to helping those with vEDS lead a healthier and full life.  She recently served on the panel for the USA Health Resources Services Administration (HRSA) to develop an algorithm for pediatricians to know how to diagnose and when to refer patients for genetic testing for Ehlers-Danlos syndrome. Her expertise is in health communication and health-related quality of life issues in people who have vEDS. 

Ambulatory BP Study – Dr. Siddarth Prakash

Siddharth Prakash has a Ph.D. in Molecular and Human Genetics from Baylor College of Medicine, where he also completed his residency in Internal Medicine and a fellowship in Cardiovascular Disease. Since 2011, Dr. Prakash has worked in the John Ritter Research Program in Aortic and Vascular Diseases at McGovern Medical School, a part of the University of Texas Health Science Center at Houston (UTHealth), where he specializes in medical therapy, imaging and surveillance of patients with heritable aortic and vascular diseases. He is Associate Professor of Internal Medicine and is co-director of the Turner Syndrome Adult Comprehensive Care Center. Dr. Prakash’s translational research l focuses on the contribution of rare genomic copy number variants (CNVs) to bicuspid aortic valve (BAV), the most common adult congenital heart defect. Dr. Prakash uses an innovative strategy to identify new candidate genes for BAV, based in part on the hypothesis that reduced dosage of genes on the X chromosome is responsible for the increased prevalence of BAV in males and in women with Turner syndrome. He identified recurrent CNVs in diverse clinical cohorts with BAV and demonstrated that specific rare CNVs are an important contributing cause of thoracic aortic aneurysms. Dr. Prakash received funding from the American Heart Association and National Institutes of Health follow up on these observations in patients with early complications of bicuspid aortic valve disease.

Natural History Study Update – Dr. Stephanie Wallace

I am a genetic counselor with the vEDS Collaborative. I have been an aortopathy counselor for the last 7 years and have so much respect and admiration for the vEDS community. Working with them has driven me to be part of the team that are looking to increase quality of care for these remarkable families.

Dutch Cohort – Dr. Serwet Demirdas

The recording of this presentation will be available on our Whova app for a short time after the event, and will not be shared further.

Dr. Demirdas is a clinical geneticist in at the Erasmus Medical Center in Rotterdam, The Netherlands, who has several publications concerning clEDS and other types of EDS. In her clinical practice she sees many patients with different types of EDS while working together with several disciplines through an established clinical pathway within the Erasmus Medical center. The professionals involved in the clinical pathway are applying to receive the qualification of “Center of Expertise” within the Netherlands.

Dr. Demirdas is also part of the EDS International Consortium and takes part in the working group for the rarer EDS types. She coordinates the research for clEDS and vEDS in the Netherlands, and is working closely with medical professionals in the Netherlands, the UK, Belgium, and France.

Rationale for a Trial of PKC Inhibition in Vascular Ehlers-Danlos Syndrome – Dr. Hal Dietz

Dr. Dietz is the Victor A. McKusick Professor of Pediatrics at the Department of Genetic Medicine at Johns Hopkins University School of Medicine and an Investigator at the Howard Hughes Medical Institute.  

Dr. Dietz heads a multidisciplinary clinic for the diagnosis and management of individuals with heritable forms of cardiovascular disease, with a special emphasis on Marfan syndrome and related connective tissue disorders including vascular Ehlers-Danlos syndrome (VEDS).  He directs a group of dedicated molecular biologists focused on the improvement of the lives of individuals with vascular connective tissue disorders through the development of novel diagnostic and treatment strategies. 

Gene Modifiers Loci Associated to Colonic Perforation – Dr. Xavier Jeunemaitre

Xavier Jeunemaitre received his MD and PhD in human genetics at the University P&M Curie, Paris France. He was trained as an internist and specialized in cardiology before being trained in molecular genetics at the College de France in Paris and in human genetics during a post-doctoral fellowship at the Institute of Human Genetics, Salt Lake City, University of Utah, USA. As a Professor in Genetics at Université de Paris (Descartes), he is in charge of the Department of Genetics at the Hospital Pompidou and a research team at the Paris Cardiovascular Research Centre, UMRS-970, Paris France. He has been appointed in 2019 as the Dean of the Faculty of Health of the Université de Paris. His main scientific interests are the genetic determinants of arterial hypertension and cardiovascular disorders, among them vascular Ehlers Danlos syndrome. Dr. Jeunemaitre authored or co-authored more than 300 peer-reviewed articles and chapters books.

Latest Research in vEDS Roundtable Q&A

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