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Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis

Arun J Ramappa1, Jason R Pyatt

  • 1Department of Cardiology, Royal Liverpool and Broadgreen University Teaching Hospitals NHS Trust, Prescot Street, Liverpool, United Kingdom.

Cardiology in the Young
|March 5, 2010
PubMed

Insights

Cystinosis, a rare metabolic disorder, rarely causes cardiac issues. This case highlights pregnancy-associated cardiomyopathy in a patient with nephropathic cystinosis, emphasizing distinct cardiac risks during pregnancy.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Cystinosis is a rare autosomal recessive metabolic disorder causing intracellular cystine accumulation and organ dysfunction.
  • Nephropathic cystinosis primarily affects renal function, with cardiac disease being an infrequent complication.
  • Advances in renal transplantation and cysteamine therapy have improved outcomes for nephropathic cystinosis.

Observation:

  • A young adult female with nephropathic cystinosis and on hemodialysis developed acute cardiac failure and dilated cardiomyopathy.
  • Cardiac symptoms emerged early postpartum following a stillbirth, coinciding with temporary cessation of cysteamine treatment.
  • Pre-pregnancy echocardiograms showed no cardiac abnormalities, suggesting a pregnancy-related etiology.

Findings:

  • Transthoracic echocardiography confirmed dilated cardiomyopathy, absent in prior scans.
  • Investigations ruled out other common causes for the cardiomyopathy.
  • The patient demonstrated a positive response to conventional cardiac treatment, with full functional recovery observed on follow-up.

Implications:

  • This case suggests pregnancy-associated cardiomyopathy rather than direct cystinosis involvement, despite the patient's underlying condition.
  • The early onset of heart failure aligns with a subset of pregnancy-associated cardiomyopathies, distinct from typical peripartum cardiomyopathy timelines.
  • Similarities in patient characteristics and outcomes suggest a shared pathological process between this case and other pregnancy-associated cardiomyopathies, with an increased risk of premature delivery.

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