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

## TL;DR

This paper discusses a rare case of Alagille syndrome diagnosed in adulthood due to heart issues, highlighting the condition's varied symptoms.

## Contribution

The paper presents an atypical adult diagnosis of Alagille syndrome emphasizing cardiac symptoms over liver disease.

## Key findings

- Alagille syndrome can present with cardiac-predominant symptoms in adulthood.
- Peripheral pulmonary stenosis detected via CMR led to the diagnosis in this case.
- Phenotypic variability underscores the need for broader diagnostic awareness.

## 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).