Ressources pour les cliniciens et professionnels de la santé

Features are described by body system, symptoms, diagnostic test, treatment, and more.

Discusses clinical characteristics, diagnosis and genetic counselling, management, activities and medication to avoid, risk for family members, and pregnancy.

A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.

Guidelines for LDS imaging, medical therapy, surgical thresholds and considerations, pregnancy, cardiac rehabilitation, shared decision making, multidisciplinary teams, and more.

Discusses pregnancy, delivery, and postpartum care, anaesthesia, aortic dissection, physical activity, retinal detachment, contraindicated medication, emergencies, allergies, and anaphylactic shock.

Guidelines for evaluation, imaging, medical therapy, exercise and activity, and surgical intervention for LDS, Marfan syndrome, vEDS and other hereditary aortic disorders in children.

Heritable thoracic aortic disease (HTAD) accounts for approximately 20-25% of all thoracic aortic aneurysms and dissections.

A point-of-care tool with clinical and genetic information on the following genes: TGFBR1, TGFBR2, TGFB2, SMAD3, ACTA2, PRKG1, MYLK, and MYH11.

Aortic Root Z-score Calculator for Children

Aortic Root Z-score Calculator for Adults

Vertebral Tortuosity Index

Aortic Size Index

Maximum aortic size divided by surface area

Clinical Scoring System for Early Onset (Neonatal) Marfan syndrome

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease

Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions

Aortic Dimensions in Turner syndrome

Aortic Cross-Sectional Area/Height Ratio

Information on our website.

This paper provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform healthcare providers, and improve patient outcomes through individualized care strategies for those living with LDS.

This database brings together clinical recommendations drawn from the scientific literature and expert consensus on various heritable connective tissue disorders (HCTDs), including Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz syndrome. Its purpose is to facilitate access to existing recommendations in order to support people living with an HCTD, their caregivers, healthcare professionals, and researchers.