Resources for Clinicians and Medical Professionals

Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder with multisystem involvement and variability in the type and severity of manifestations. It is best monitored and treated by a multidisciplinary team.

For more educational resources, visit the patient information section of our website.

Resource Directory for Loeys-Dietz Syndrome

Head-to-Toe of Features Observed in Loeys-Dietz Syndrome

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

Article: Loeys-Dietz Syndrome (2018), by Dr. Bart Loeys and Dr. Harry Dietz

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

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease

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.

VASCERN Do’s and Don’ts for Situations Frequently Faced by Loeys-Dietz Syndrome Patients

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

2024 AHA Guideline for Management of Aortopathy in Children

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

Genetics Guide on HTAD - GECKO

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

UTHealth Genomic Medicine Guidance Application

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

Cardiovascular Risk Calculators​
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
Loeys-Dietz Syndrome: 2026 updated care management primer

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.

The Foundation does not provide social, health, or medical services nor are they responsible for medical or other referred services provided by third parties.  

This page offers a preview of the Resource Directory. To find additional information or add a resource to the directory, please contact the Foundation.

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