Work

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

Year: 2026

Type: article

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).

Source: Case Reports in Cardiology

DOI: 10.1155/cric/5884548

Authors: Matthew K. Campbell, Jessica Hallam, Samuel L. Casella, Sangeeta Shah

Institutions: Virginia Commonwealth University, Virginia Commonwealth University Medical Center, Children's Hospital of Richmond at VCU

Language: English

Topic: Pediatric Hepatobiliary Diseases and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790