Heart risks in Alagille syndrome may go beyond artery narrowing

Children hospitalized with Alagille syndrome commonly had narrowing in the branches of the pulmonary artery, which carries blood from the heart to the lungs, but they also had a wide range of rare and complex heart and blood vessel abnormalities, a small study from Argentina found.

Researchers also found rare cardiovascular abnormalities, including some not previously documented in Alagille syndrome, highlighting the importance of thorough heart and blood vessel exams for proper treatment and long-term care of people with the disease.

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Study calls for broader heart checks

“These findings underscore the need for broader, geographically diverse studies to enhance understanding of the full clinical spectrum and guide comprehensive care,” researchers wrote in the study, “Cardiovascular features of Alagille syndrome in hospitalized pediatric patients: a tertiary center experience,” which was published in Progress in Pediatric Cardiology.

Alagille syndrome is a genetic condition that can affect many organs of the body, causing a wide range of symptoms that can be more or less severe. Although heart and blood vessel problems are a common feature of Alagille, these issues vary widely from patient to patient, and the full spectrum of cardiovascular issues remains unknown.

To learn more, a team of researchers in Argentina reviewed medical records of 30 children with Alagille syndrome who were hospitalized at their center between 2014 and 2024 and had available heart imaging data. Most children were girls and were diagnosed with Alagille syndrome very early in life, at a median age of 3 months.

All patients but one showed the characteristic facial features of Alagille syndrome, which may include a broad forehead and deeply set, widely spaced eyes. All but one other patient developed cholestasis, which occurs when a digestive fluid called bile cannot flow normally from the liver into the intestines, causing it to accumulate in the liver and damage it. During follow-up, 12 patients (40%) underwent liver transplantation, and one of those 12 (8%) required retransplantation.

The most common cardiovascular abnormality was pulmonary artery branch stenosis, found in 25 children (83%). This occurs when one or both branches of the pulmonary artery, the vessel that carries blood from the heart to the lungs, become narrowed. Such narrowing increases resistance to blood flow and puts strain on the right side of the heart.

Among children with pulmonary artery branch stenosis, most cases involved both branches (72%) and were mild in severity (52%). When only one branch was narrowed, it was most commonly the left one. Many narrowings remained stable or improved over time. Four patients underwent stent angioplasty, a minimally invasive procedure in which a small metal tube is placed inside a narrowed blood vessel to keep it open.

Rare heart problems also reported

In addition to pulmonary artery branch stenosis, eight patients (27%) had other cardiovascular abnormalities. Three had left-sided obstructive problems involving the aortic arch, a curved segment of the aorta, which carries blood from the heart to the rest of the body.

One patient had pulmonary atresia with ventricular septal defect, meaning the valve that allows blood to reach the lungs did not develop normally or was sealed, and there was an abnormal opening in the wall that separates the heart’s lower chambers. Another patient had tetralogy of Fallot, a combination of four heart abnormalities that affect blood flow, along with an absent pulmonary valve.

The researchers also described one patient with mild pulmonary artery branch stenosis who was diagnosed with Scimitar syndrome, a rare cardiovascular abnormality in which a pulmonary vein drains into the inferior vena cava — the largest vein in the body — rather than into the left side of the heart.

Three patients experienced intracranial hemorrhage (bleeding inside the skull), and two of these also had Moyamoya disease, a rare disease that causes progressive narrowing of arteries supplying the brain and increases the risk of stroke. At the last follow-up, six patients (20%) had died. The reported causes were liver failure and other serious complications, and mortality was not clearly linked to prior heart surgery.

“This study provides novel and regionally relevant data on the cardiovascular manifestations of Alagille syndrome in pediatric patients from a Latin American tertiary care center,” the researchers concluded. “Consistent with previous reports, pulmonary artery branch stenosis was the most frequent cardiovascular abnormality observed.”