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Access international guidelines, diagnostic frameworks, genetic testing resources, and educational tools relevant to the care and study of Heritable Thoracic Aortic Disease (HTAD).
These resources support clinicians and researchers in advancing evidence-based diagnosis, management, and research.
International Guidelines
Guidelines supporting the diagnosis, treatment, and care of individuals with HTAD.
United States of America
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. Circulation. 2022 Dec 13;146(24):e334-e482. PMID: 36322642
Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association. Circulation. 2024 Sep 10;150(11):e228-e254. PMID: 39129620
Canada
Canadian Cardiovascular Society Position Statement on the Management of Thoracic Aortic Disease. Can J Cardiol. 2014 Jun;30(6):577-89. PMID: 24882528
Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing. Can J Cardiol. 2025 Dec;41(12):2312-2333. PMID: 41412630
Europe
EACTS/STS Guidelines for diagnosing and treating acute and chronic syndromes of the aortic organ. Eur J Cardiothorac Surg. 2024 Feb 1;65(2):ezad426. PMID: 38408364
Tools for Your Practice
Resources, calculators, diagnostic criteria, and educational tools for healthcare professionals.
Gene Reviews
A peer-reviewed, point-of-care resource offering clinicians actionable guidance on inherited conditions, including diagnosis, management, and genetic counselling. Click to visit
Genetics Education Canada
A primary care–focused genomics knowledge hub providing practical, clinically relevant resources to support cardiovascular genetic risk assessment, testing, and management. Click to visit
National Human Genome Research Institute (NHGRI)
A trusted source of clear, concise fact sheets covering key topics in genomics, including genetic conditions, research advances, and clinical applications. Click to visit
Centre for Genetics Education (Australia)
An accessible resource providing general genetics information, including explanations of genetic conditions, testing, inheritance patterns, and patient support materials. Click to visit
Ghent Criteria for Marfan syndrome
A standardized diagnostic framework for Marfan syndrome, outlining clinical criteria and scoring to support accurate assessment; document currently being formatted.
References:
The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. PMID: 20591885.
Beighton Score
Beighton Score & 2017 criteria for hypermobile Ehlers-Danlos syndrome Validated tools for assessing joint hypermobility and diagnosing hypermobile Ehlers-Danlos syndrome, including structured scoring and clinical evaluation guidelines.
References:
Articular mobility in an African population. Ann Rheum Dis. 1973 Sep;32(5):413-8. PMID: 4751776
A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-157. PMID: 28145606.
Z-Score
References:
Relationship of Echocardiographic Z Scores Adjusted for Body Surface Area to Age, Sex, Race, and Ethnicity: The Pediatric Heart Network Normal Echocardiogram Database. Circ Cardiovasc Imaging. 2017 Nov;10(11):e006979. PMID: 29138232
Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. Am J Cardiol. 2012 Oct 15;110(8):1189-94. PMID: 22770936
The Mystery of the Z-Score Aorta (Stamford). 2016 Aug 1;4(4):124-130. PMID: 28097194
European Society of Cardiology. How to measure the aorta in the setting of genetic disease. Cardiogenomic insights – vol 3 November 2, 2022
Articular mobility in an African population. Ann Rheum Dis. 1973 Sep;32(5):413-8. PMID: 4751776
A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-157. PMID: 28145606.
International Guidelines
For the care of individuals with thoracic aortic aneurysms
United States of America
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. Circulation. 2022 Dec 13;146(24):e334-e482. PMID: 36322642
Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association. Circulation. 2024 Sep 10;150(11):e228-e254. PMID: 39129620
Europe
EACTS/STS Guidelines for diagnosing and treating acute and chronic syndromes of the aortic organ. Eur J Cardiothorac Surg. 2024 Feb 1;65(2):ezad426. PMID: 38408364
Canada
Canadian Cardiovascular Society Position Statement on the Management of Thoracic Aortic Disease. Can J Cardiol. 2014 Jun;30(6):577-89. PMID: 24882528
Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing. Can J Cardiol. 2025 Dec;41(12):2312-2333. PMID: 41412630
Find a genetic, cardiology or testing services centres
Locate a genetic test laboratory or specialist clinic
Genetic testing registry (NIH) USA directory of laboratories and available genetic tests
Orphanet (Europe) Genetic test directory
National Society of Genetic Counselors (USA) Find a genetic counselor
Canadian Association of Genetic Counsellors Find medical genetics clinic and/or genetic counsellors
VASCERN (Europe) HTAD expert centres
Genetic Aortic Disorder Association Canada Find a cardiology or genetics clinic
Marfan Foundation (USA) Find an HTAD specialist clinic
Human Genetics Society of Australasia directory of medical genetics clinics
Other research studies
CLARITY Collaborative for Longitudinal Aortic Research in The Young
IRAD International Registry of Acute Aortic Dissection
Clinical trials (USA and international)
Clinical trials in the European Union
Support groups
Connective Tissue Disorders Network Australia
Genetic Aortic Disorder Association (GADA) Canada
Genetic Aortic Network (USA)
The John Ritter Foundation (USA)
Marfan Trust (United Kingdom)
Orphanet (Europe) Find a support group
VASCERN European Reference Network on Rare Multisystemic Vascular Diseases
Tools for your practice
Gene Reviews
A peer-reviewed, point-of-care resource offering clinicians actionable guidance on inherited conditions, including diagnosis, management, and genetic counselling.
Genetics Organisation Canada
A primary care–focused genomics knowledge hub providing practical, clinically relevant resources to support cardiovascular genetic risk assessment, testing, and management.
National Human Genome Research Institute (NHGRI)
A trusted source of clear, concise fact sheets covering key topics in genomics, including genetic conditions, research advances, and clinical applications.
Centre for Genetics Education (Australia)
An accessible resource providing general genetics information, including explanations of genetic conditions, testing, inheritance patterns, and patient support materials.
Ghent Criteria for Marfan syndrome
A standardized diagnostic framework for Marfan syndrome, outlining clinical criteria and scoring to support accurate assessment; document currently being formatted.
Beighton Score
Beighton Score & 2017 criteria for hypermobile Ehlers-Danlos syndrome Validated tools for assessing joint hypermobility and diagnosing hypermobile Ehlers-Danlos syndrome, including structured scoring and clinical evaluation guidelines.
Online Z – score calculators
Variant interpretation and classification tools
Tools that help clinicians and researchers evaluate the clinical significance of genetic variants and support accurate.
Find a genetic, cardiology or testing services centres
Locate a genetic test laboratory or specialist clinic
Genetic testing registry (NIH) USA directory of laboratories and available genetic tests
Orphanet (Europe) Genetic test directory
National Society of Genetic Counselors (USA) Find a genetic counselor
Canadian Association of Genetic Counsellors Find medical genetics clinic and/or genetic counsellors
VASCERN (Europe) HTAD expert centres
Genetic Aortic Disorder Association Canada Find a cardiology or genetics clinic
The Genetic Aortic Network (USA) Find an HTAD specialist clinic
Human Genetics Society of Australasia directory of medical genetics clinics
References
Relationship of Echocardiographic Z Scores Adjusted for Body Surface Area to Age, Sex, Race, and Ethnicity: The Pediatric Heart Network Normal Echocardiogram Database. Circ Cardiovasc Imaging. 2017 Nov;10(11):e006979. PMID: 29138232
Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. Am J Cardiol. 2012 Oct 15;110(8):1189-94. PMID: 22770936
The Mystery of the Z-Score Aorta (Stamford). 2016 Aug 1;4(4):124-130. PMID: 28097194
European Society of Cardiology. How to measure the aort
Other research studies
CLARITY Collaborative for Longitudinal Aortic Research in The Young
IRAD International Registry of Acute Aortic Dissection
Clinical trials (USA and international)
Clinical trials in the European Union
Support groups and other organizations
Connective Tissue Disorders Network Australia
Genetic Aortic Disorder Association (GADA) Canada
Genetic Aortic Network (USA)
The John Ritter Foundation (USA)
Marfan Trust (United Kingdom)
Orphanet (Europe) Find a support group
VASCERN European Reference Network on Rare Multisystemic Vascular Diseases
Share data and help advancing Research
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