Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome

Case Reports in Cardiology 2026 Open access

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Authors: Matthew K. Campbell, Jessica Hallam, Samuel L. Casella, Sangeeta Shah
DOI: 10.1155/cric/5884548
Cited by: 1
References: 11

Abstract

Alagille syndrome is a rare multisystemic genetic condition most commonly associated with neonatal liver disease. Variable expressivity is a defining feature of Alagille syndrome, resulting in a broad spectrum of phenotypic variation among individuals who meet the diagnostic criteria. We present an atypical case of cardiac-predominant Alagille syndrome diagnosed in adulthood after the detection of peripheral pulmonary stenosis on cardiac magnetic resonance imaging (CMR).

Fields of Study & Subjects

Pediatric Hepatobiliary Diseases and Treatments Gallbladder and Bile Duct Disorders Drug Transport and Resistance Mechanisms

Publication details

Journal / source
Case Reports in Cardiology
Publisher
Wiley
Volume
2026
Issue
1
Pages
5884548–5884548
Publication date
1 January 2026
Language
EN