Unraveling the Mystery of Arterial Tortuosity Syndrome: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by twisting and elongation of the arteries, leading to various complications. This article aims to provide an understanding of ATS, its diagnosis, and the role of genetic testing in managing this condition. We will discuss the findings from recent research articles and case reports to provide a comprehensive overview of this challenging disease.

Understanding Arterial Tortuosity Syndrome

ATS is a rare autosomal recessive disorder that affects the connective tissues in the body. The primary feature of this condition is the twisting and elongation of the arteries, which can lead to complications such as aneurysms, dissections, and stenosis. Patients with ATS may also exhibit abnormal facial features and hypermobility of joints1. Recent research has also suggested an association between arterial tortuosity and perinatal stroke, indicating that children with perinatal stroke have an abnormally wide range of arterial tortuosity2.

Diagnosing Arterial Tortuosity Syndrome

Diagnosing ATS can be challenging due to its rarity and the variety of symptoms it presents. Radiological imaging plays a crucial role in detecting the characteristic arterial abnormalities and potential complications of this condition3. Some of the imaging techniques used for diagnosis include:

• Computed Tomography (CT) angiography
• Magnetic Resonance Imaging (MRI)
• Echocardiography
• Ultrasound

In addition to imaging, a thorough clinical evaluation and family history assessment are essential for an accurate diagnosis. As ATS is an autosomal recessive disorder, a detailed family history can provide valuable information for diagnosis and genetic counseling.

Genetic Testing and Arterial Tortuosity Syndrome

Genetic testing plays a crucial role in the diagnosis and management of ATS. By identifying the specific genetic mutations responsible for this condition, healthcare providers can confirm the diagnosis, provide appropriate treatment, and offer genetic counseling to affected families.

Identifying the Genetic Cause

Recent studies have identified loss-of-function variants in the EMILIN1 gene as a cause of ATS4. This gene is responsible for encoding a protein that is involved in the formation of elastic fibers and collagen fibrils, which are essential components of the arterial wall. Mutations in the EMILIN1 gene can lead to impaired elastogenesis and defective collagen fibrillogenesis, resulting in the characteristic arterial abnormalities seen in ATS patients.

Confirming the Diagnosis

Genetic testing can be used to confirm the diagnosis of ATS by identifying the specific EMILIN1 gene mutations in affected individuals. This is particularly helpful in cases where the clinical presentation is ambiguous or when there is a family history of the condition.

Genetic Counseling and Family Planning

Once a genetic mutation has been identified, genetic counseling can be provided to families affected by ATS. This can help them understand the implications of the diagnosis, the inheritance pattern of the condition, and the risks associated with future pregnancies. Genetic testing can also be used for prenatal diagnosis and preimplantation genetic diagnosis, allowing families to make informed decisions about family planning and reproductive options.

Conclusion

Arterial Tortuosity Syndrome is a rare and complex genetic disorder that requires a multidisciplinary approach for diagnosis and management. Genetic testing plays a critical role in understanding the underlying cause, confirming the diagnosis, and providing appropriate genetic counseling to affected families. By increasing awareness and knowledge of this condition, healthcare providers can better identify and manage ATS patients, ultimately improving their quality of life and long-term outcomes.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)