A team of medical researchers described a rare case involving a young patient with Alagille syndrome (ALGS) who presented predominantly with cardiac abnormalities and a normal liver. This rare case presentation, published in Cureus, invites physicians to consider the role of multisystem management, monitoring, and family assessment in diagnosing rare disorders such as ALGS.

The initial diagnosis of ALGS is made based on the minimal presence of 3 of the following criteria: chronic cholestasis, skeletal abnormality, cardiac disease, specific facial characteristics, and ocular abnormalities. When cardiac involvement is present, mortality increases significantly.

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Below is a brief summary of the case, which illustrates an ALGS patient with significant cardiac abnormalities.

A 4-year-old child presented with the following signs and symptoms that were highly suggestive of ALGS:

  • Acyanotic congenital heart disease: moderate ostium secundum atrial septal defect and branch pulmonary artery stenosis
  • Classical features of ALGS facial dysmorphism, such as frontal bossing, a pointed chin, triangular facies, deep-set eyes, and mild joint laxity
  • A delay in mental development more pronounced than the patient’s delay in motor development along with poor speech
  • Posterior embryotoxon demonstrated during ocular examination, as well as mild pigmentary retinopathy in the right eye 
  • Abnormal segmentation in the T5 vertebrae (otherwise known as the “butterfly vertebrae” sign), shown on chest X-ray 
  • History of recurrent infections but negative for neonatal cholestasis and maternal abnormalities. 

Further investigations and tests resulted in a diagnosis of ALGS. The following outlines her flow of care received: 

  • Her physicians planned for bilateral branch pulmonary artery plasty with glutaraldehyde treated pericardial patch, as well as the direct closure of the atrial septal defect, leaving a patent foramen ovale. 
  • The surgery was uneventful and she was extubated on the third day post-surgery. 
  • A postoperative echocardiogram was performed 1 week post-surgery, revealing a severe obstruction in the left pulmonary artery flow with a peak gradient of 100 mmHg, with diastolic tailing observed in the left pulmonary artery flow. Physicians reported good flow in the proximal right pulmonary artery. A small ostium secundum atrial septal defect was present with shunting from the right to left. Physicians also found severe right ventricle dysfunction with tricuspid annular plane systolic excursion of 5 mm. 
  • The patient was gradually initiated on a liquid diet and eventually moved onto full feeds. She was discharged with a healthy wound and was in a stable condition. 

This case study demonstrated both typical and atypical features of ALGS that all physicians should look out for, the authors said. “Alagille syndrome may present with hepatic complications or cardiac anomalies in isolation; therefore, it is important to not miss out on the diagnosis and to have a higher clinical suspicion for Alagille syndrome,” they wrote.


Bhende VV, Majmudar HP, Sharma TS, Pathan SR, Mehta DV. Nonhepatic Alagille syndrome associated with predominant cardioskeletal anomalies: a rare case. Cureus. Published online August 25, 2021. doi:10.7759/cureus.17429