Recognizing the Signs: Symptoms and Clinical Presentations of ATS

Arterial Tortuosity Syndrome (ATS) affects multiple systems in the body, primarily due to the weakening of connective tissues. While the twisting of arteries is the hallmark of the condition, its clinical presentation can range from serious issues in newborns to different, often milder, symptoms in adults ^[1][2].

Cardiovascular Symptoms: Stenosis and Aneurysms

The most significant impact of ATS is on the arteries. Unlike some other genetic conditions where arteries tend to tear frequently, ATS is primarily characterized by the stretching, twisting, and narrowing of blood vessels ^[3].

• Arterial Stenosis: This is the narrowing of an artery, which can restrict blood flow. In ATS, this frequently affects the pulmonary artery branches (the vessels that carry blood to the lungs) ^[4]. This narrowing can create a pressure gradient, leading to elevated right-ventricular pressure as the heart works harder ^[5].
• Aneurysms: These are bulges or “pockets” in the arterial walls. The aortic root—the part of the main artery directly attached to the heart—is a common site for these bulges ^[4]. In some cases, these can develop early in life ^[3].
• Tortuosity and Kinking: The arteries can become so elongated that they form loops or “corks” known as kinking. This can occur in the coronary arteries (supplying the heart) or the arteries supplying the brain ^[6][7].

A Note on Arterial Dissection: In conditions like Vascular Ehlers-Danlos Syndrome (vEDS) or Loeys-Dietz Syndrome, spontaneous tearing of the vessel wall (arterial dissection) or rupture is a frequent hallmark. While such dissections are reported less frequently in ATS cohorts, they are not impossible ^[3][4]. Sudden chest, back, or abdominal pain always requires immediate emergency assessment.

Connective Tissue and Respiratory Features

Because the body’s “glue” (collagen and elastin) is disorganized, other tissues are affected ^[8].

• Loose Skin and Joint Flexibility: Many patients have soft, loose skin and joints that are overly flexible (hypermobility) ^[3][9].
• Hernias: Diaphragmatic hernias (where organs from the belly move into the chest) and inguinal (groin) hernias are frequently observed ^[3][10].
• Newborn Challenges: Some infants experience respiratory distress shortly after birth ^[3]. This is often caused by airway compression from twisted arteries or floppy tissues, rather than the specific surfactant-deficiency disease common in premature babies ^[11][1].

Vision and the Eyes

ATS has a very specific “signature” when it comes to eye health. Ophthalmic evaluations often find:

• Myopia: Significant nearsightedness is common ^[12].
• Corneal Thinning: The cornea (the clear front window of the eye) may be thinner than average ^[12].
• Keratoconus and Keratoglobus: These are conditions where the cornea bulges outward into a cone or globe shape because it is too thin to hold its structure ^[12][13]. A baseline assessment and regular monitoring by an eye specialist is appropriate.

Neurological Risks

While uncommonly reported as routine features, the twisting and narrowing of arteries can affect the brain’s blood supply.

• Transient Ischemic Attacks (TIAs): These are “mini-strokes” where blood flow is briefly interrupted, causing temporary symptoms. These are uncommon but have been reported ^[7].
• Stroke: Ischemic strokes (caused by a blockage) can occur in rare cases ^[3][14].
• Intracranial Bleeding: Bleeding inside the skull has been reported in neonates with severe ATS, though it is considered a rare complication ^[3]. Not every patient requires routine neurologic screening, but any sudden neurological symptoms require immediate emergency care.

Variability in Presentation

The symptoms of ATS do not look the same for everyone. A newborn may struggle with severe breathing and feeding issues due to vessel kinking ^[1]. In contrast, an adult might first be diagnosed after experiencing heart-related symptoms or high blood pressure in the lungs later in life ^[2]. This wide spectrum means that care must be highly personalized to the specific symptoms you or your child are experiencing.