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Dilated cardiomyopathy and progressive familial intrahepatic cholestasis

Stephanie James1, Deirdre Waterhouse, Kenneth McDonald

  • 1Department of Cardiology, St Vincent's University Hospital, Dublin, Ireland.

BMJ Case Reports
|March 22, 2014
PubMed

Insights

This study documents a rare case of non-ischaemic dilated cardiomyopathy in a patient with progressive familial intrahepatic cholestasis type 1 (PFIC1), also known as Byler's disease. Cardiac MRI revealed myocardial fibrosis, highlighting a potential new association between these conditions.

Area of Science:

  • Cardiology
  • Hepatology
  • Genetics

Background:

  • Progressive familial intrahepatic cholestasis type 1 (PFIC1), or Byler's disease, is a rare genetic disorder affecting bile flow.
  • Dilated cardiomyopathy (DCM) is a condition where the heart's main pumping chamber stretches.

Observation:

  • A 29-year-old male with childhood-diagnosed PFIC1 developed non-ischaemic DCM at age 21.
  • Cardiac MRI showed global wall thinning and significant mid-wall to epicardial myocardial fibrosis.

Findings:

  • This is the first documented case of non-ischaemic DCM with mid-wall fibrosis in a patient with PFIC1.
  • No shared genetic links between DCM and PFIC1/cholestatic liver disease have been identified.

Implications:

  • This case suggests a potential, previously unrecognized association between PFIC1 and non-ischaemic DCM.
  • Further research is needed to explore the underlying mechanisms and genetic factors connecting these conditions.

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