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Heart Transplantation in a Patient With Liddle Syndrome.

Jay Gohri1, Rahul Bakhle2, Avery E Calhoun3

  • 1JSS Medical College, Karnataka, India.

JACC. Case Reports
|March 7, 2025
PubMed
Summary

Liddle syndrome, a rare genetic disorder, can cause severe heart failure and kidney disease. This case highlights advanced Liddle syndrome complications requiring mechanical support and heart transplantation.

Keywords:
Liddle syndromeadvanced heart failureheart transplantresistant hypertension

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Area of Science:

  • Nephrology
  • Cardiology
  • Genetics

Background:

  • Liddle syndrome is a rare autosomal dominant disorder characterized by early-onset hypertension, hypokalemia, and metabolic alkalosis.
  • It results from mutations in genes encoding epithelial sodium channels (ENaC), leading to increased sodium reabsorption and potassium excretion.

Observation:

  • A 29-year-old man with Liddle syndrome presented with advanced heart failure (Stage D) and chronic kidney disease (Stage 4).
  • Despite standard medical management, the patient experienced refractory cardiogenic shock.

Findings:

  • The patient required venoarterial extracorporeal membrane oxygenation (VA-ECMO) for mechanical circulatory support.
  • An expedited heart transplant listing was necessitated due to the severity of his condition.

Implications:

  • This case underscores the severe cardiovascular and renal complications that can arise from Liddle syndrome.
  • It emphasizes the critical role of mechanical circulatory support and heart transplantation in managing advanced Liddle syndrome.
  • Early diagnosis and aggressive management are crucial for improving outcomes in patients with Liddle syndrome.