Which are the symptoms of Arterial Tortuosity Syndrome?

Symptoms of Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder that affects the connective tissues in the body, leading to abnormal twisting and elongation of the arteries. This condition can have various symptoms, which may vary in severity from person to person.

Cardiovascular Symptoms:

One of the primary manifestations of ATS is cardiovascular abnormalities. Individuals with ATS may experience a range of cardiovascular symptoms, including:

• Abnormalities in the structure and function of the heart valves


• Enlargement of the aorta


• Narrowing or blockage of the arteries


• Irregular heartbeat or arrhythmia


• High blood pressure

Connective Tissue Symptoms:

ATS affects the connective tissues throughout the body, leading to various symptoms related to the musculoskeletal and other systems. Some common connective tissue symptoms of ATS include:

• Joint hypermobility or increased flexibility


• Joint pain or arthritis-like symptoms


• Curvature of the spine (scoliosis)


• Soft, velvety skin


• Fragile blood vessels

Respiratory Symptoms:

Individuals with ATS may also experience respiratory symptoms, although these are less common. Some respiratory symptoms associated with ATS include:

• Shortness of breath


• Recurrent respiratory infections


• Asthma-like symptoms

Gastrointestinal Symptoms:

In some cases, ATS can affect the gastrointestinal system, leading to certain symptoms such as:

• Difficulty swallowing (dysphagia)


• Reflux or gastroesophageal reflux disease (GERD)


• Abdominal pain or discomfort

Other Symptoms:

ATS can also present with additional symptoms that may affect various systems in the body. These include:

• Delayed growth and development


• Intellectual disability or learning difficulties


• Eye abnormalities, such as nearsightedness or astigmatism


• Facial features that may appear different from typical individuals

It is important to note that the symptoms of ATS can vary widely, and not all individuals with the condition will experience all of the mentioned symptoms. Additionally, the severity of symptoms can also differ among affected individuals.

If you suspect that you or someone you know may have Arterial Tortuosity Syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management of the condition.