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Resistance to thyroid hormone (RTH) is a rare genetic disorder that can cause severe heart problems, including cardiomyopathy. Early recognition and a team approach are crucial for managing RTH-related heart failure.

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Area of Science:

  • Endocrinology
  • Cardiology
  • Genetics

Background:

  • Resistance to thyroid hormone (RTH) is a rare genetic disorder stemming from mutations in thyroid hormone receptor genes (THRα, THRβ).
  • While systemic effects are known, cardiac manifestations like cardiomyopathy and heart failure are often overlooked.
  • This case highlights the critical need for cardiological awareness in RTH diagnosis and management.

Observation:

  • A 50-year-old female with a THRβ gene mutation (c.1357C > A, p.P453T) presented with goiter, hypothyroidism, and progressive cardiac issues.
  • She experienced angina, atrial fibrillation, heart failure, and dilated cardiomyopathy (DCM) with ejection fraction <30%, ultimately requiring heart transplantation.
  • The mutation was familial, indicating autosomal dominant inheritance.

Findings:

  • RTH can be a significant, yet underrecognized, cause of refractory cardiac failure.
  • The patient's cardiac condition worsened despite optimal medical therapy, necessitating heart transplantation.
  • Management was complex due to thyroidectomy, levothyroxine therapy, and post-transplant immunosuppression.

Implications:

  • Cardiologists should suspect RTH in unexplained or treatment-resistant cardiomyopathy, especially with a family history of thyroid disease or arrhythmias.
  • Early diagnosis of RTH-related cardiomyopathy is vital for effective management.
  • A multidisciplinary approach involving endocrinology and cardiology is essential for optimizing patient outcomes.