Connective Issues Winter 2023

Congratulations to the Science n Paris Scholarship Winners

ther Researchers World Vascular Ehlers-Danlos Syndrome Studies in Mice • Genes responsible for VEDS familial variability were identified. • Cells that line the blood vessels contribute to cell signaling leading to vascular rupture. • Decreasing levels of androgens and mineralocorticoids help reduce arterial rupture. • Certain statins reduced aortic wall stress which may indicate added value in the drug therapy. Bicuspid Aortic Valve (BAV) • Aortic tortuosity related more to tubular dilation compared to root dilation. • Pregnancy in BAV related aortopathy in a study of 47 patients with 103 pregnancies seems safe in women with aortic root z scores over 40 mm and there were no dissections during pregnancy or post-partum. • When genetic testing for other genetic aortic conditions is done in patients with BAV phenotypic features or family history of aneurysm or sudden death, there was a 16% positive rate. The GenTAC Aortic Summit tackled several controversial issues to help clarify a variety of clinical management opinions as well as guidelines for di ff erent countries. These are the very di ffi cult clinical decisions facing surgeons every day. • Should the size of the aneurysm for surgical intervention for BAV be the same or di ff erent as non genetic aortopathies? • What are the pros and cons of operating on ascending intramural hematoma? • What are the pros and cons of stenting a type B dissection? This meeting has it all – great science, great clinical information, and most importantly, a tangible connection to patients. This meeting exceeded my expectations in every respect.

DEFY VEDS Scientific Meeting (Provided by the DEFY Foundation) • Caitlin Bowen , Johns Hopkins University – A Gene Variant and Mechanism for a Potent Protective Modifier of Vascular Ehlers Danlos Syndrome International Symposium on Marfan: NIH Supported • Lauriane Sedes , Icahn School of Medicine at Mount Sinai – Loss of TGF β Signaling in the Outer Perichondrium Causes Longitudinal Bone Overgrowth in Marfan Syndrome • Anna Cantalupo , Icahn School of Medicine at Mount Sinai – Combination Therapy Targeting the Major Angiotensin II Receptors Prevents Thoracic Aortic Aneurysm Formation in Marfan Syndrome Mice by Reversing eNOS Uncoupling • Marc Schönholzer , Swiss Foundation for People with Rare Diseases – Insights into the Biomechanical Integrity of the Aorta in Mice Modelling Hereditary Aortic Diseases • Anna Huguenard , Washington University in St. Louis – Intracranial Aneurysms in Patients with Loeys-Dietz Syndrome • Palca Shibale , University of Washington – Presentation and Management of Arteriopathy in Marfan Syndrome. • Tala Curry , University of Arizona College of Medicine-Phoenix – Marfan Syndrome Accelerates Cerebrovascular Aging and Blood-Brain Barrier Permeability • Rodrigo Barbosa De Souza , University of São Paulo – Compensatory Mechanisms in the Tunica Media of Aortic and Mesenteric Arteries of the mg lpn Dominant-negative Mouse Model of Marfan Syndrome. GenTAC Aortic Summit: NIH Supported • Talha Niaz , Texas Children’s Hospital – Role and Yield of Clinical Genetic Testing Among Patients with Bicuspid Aortic Valve and Aortic Dilation Referred to the Cardiovascular Genetics Clinic • Laura Muiño Mosquera , Ghent University Hospital – Clinical and Genetic Correlates of Mitral Valve Pathology in Patients with Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium • Robert Peña , George Washington University Hospital – Revisiting the Combination Aortic Dissection Detection Risk Score (ADD-RS) and D-Dimer Algorithm for Acute Aortic Syndrome (AAS) Rule-Out in the Emergency Department

This is one of my favorite scientific meetings as it unites people from all different disciplines and levels of training about genetic disorders with predisposition for aortic dissection. I always learn a lot and leave energized with new ideas for research and collaboration.

Caitlin Bowen, MD, PhD, with Anthony Yasick, MD

Anna Cantalupo, PhD, and Palca Shibale, BS

Talha Niaz, MBBS

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Winter 2023