Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Aortic root aneurysm	Echocardiography	Aortic root measurements must be interpreted based on consideration of normal values for age & body size.
Arterial tortuosity (AT)	MRA or CT scan w/3D reconstruction from head to pelvis	To evaluate AT, identify abnormal implantation of aortic branches & identify arterial aneurysms &/or stenosis throughout arterial tree.
Hypertension	Blood pressure measurements
Orthostatic hypotension	Tilt testing	Only if history is suggestive
Palate abnormality	Eval for cleft palate or bifid uvula
Diaphragmatic hernia / Sliding hernia	Thoracoabdominal radiography
Scoliosis	Clinical eval, skeletal radiographs
Osteopenia	Bone densitometry	If diagnosed in adulthood
Ocular abnormality	Eval for keratoconus, keratoglobus & corneal thinning, refractive errors
Urogenital abnormalities	Ultrasound of urinary tract
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of ATS to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

Aortic root aneurysm

Echocardiography

Aortic root measurements must be interpreted based on consideration of normal values for age & body size.

Arterial tortuosity (AT)

MRA or CT scan w/3D reconstruction from head to pelvis

To evaluate AT, identify abnormal implantation of aortic branches & identify arterial aneurysms &/or stenosis throughout arterial tree.

Hypertension

Blood pressure measurements

Orthostatic hypotension

Tilt testing

Only if history is suggestive

Palate abnormality

Eval for cleft palate or bifid uvula

Diaphragmatic hernia /
Sliding hernia

Thoracoabdominal radiography

Scoliosis

Clinical eval, skeletal radiographs

Osteopenia

Bone densitometry

If diagnosed in adulthood

Ocular abnormality

Eval for keratoconus, keratoglobus & corneal thinning, refractive errors

Urogenital abnormalities

Ultrasound of urinary tract

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of ATS to facilitate medical & personal decision making

From: Arterial Tortuosity Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.