Patients with Alagille syndrome (ALGS) characteristically have developmental disorders in numerous organs, including the heart. In a novel case report, an 8-year-old girl with ALGS was unexpectedly diagnosed with left coronary ostial occlusion, which is not among the expected cardiac manifestations of this disease, according to the study published in Pediatrics International.

The patient, who had a mutation on JAG1, first presented for a hemodynamic status assessment at 11 months old. She already had multiple diagnoses, including multiple peripheral pulmonary arterial stenosis, incomplete atrioventricular septal defect, and dysplastic atrioventricular valves.

After the assessment, the patient underwent a cardiac catheterization showing diffusely hypoplastic and stenotic pulmonary arteries. At that time, both coronary arteries were normal, including their derivation from their respective cusps.


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At the age of 2 years, the patient was diagnosed with Kawasaki disease and received treatment with intravenous immunoglobulin. Similarly, the cardiovascular assessment at that time coronary arteries with a normal appearance, still normally derived from their cusps. The patient did not have any coronary complications after the disease.

In the current presentation, “the right coronary angiography showed that the left coronary artery was perfused retrograde from the right coronary arterial blood flow, and that the ostium of the left coronary artery was occlusive,” the authors explained, noting “the patient had never experienced chest pain.”

Although close to 100% of patients with ALGS develop cardiac abnormalities, this does not typically include coronary ostium occlusion, which is more common in other genetic diseases, such as Williams syndrome.

“In individuals with Williams syndrome, coronary artery ostial stenosis or occlusion develops progressively, and often results in a fatal course,” the authors said. “Coronary arterial involvement has not been known in individuals with Alagille syndrome, although there is one report of a patient with anomalous origin of the left coronary artery from the pulmonary trunk.”

The authors noted that despite Kawasaki disease being a possible source of the coronary ostium occlusion, subsequent repetitious cardiovascular assessment with echocardiography did not reveal such, therefore, inferring that this was a coronary ostium occlusion case of ALGS which appeared similar to that seen in Williams syndrome.

Reference

Tsukada H, Muneuchi J, Kobayashi M, Sugitani Y, Watanabe M. Left coronary ostial occlusion associated with Alagille syndrome. Pediatr Int. 2022;64(1). doi:10.1111/ped.15186