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Kocher-Debre-Semelaigne syndrome with arrhythmogenic right ventricular cardiomyopathy: A hitherto unrecognized

Nagaraja Moorthy1, Sudeep Kumar, Preeti Dabadghao

  • 1Department of Cardiology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Indian Journal of Endocrinology and Metabolism
|December 11, 2012
PubMed

Insights

Kocher-Debre-Semelaigne syndrome, a rare hypothyroid myopathy, is typically associated with muscle hypertrophy. This case report details a novel cardiac finding of arrhythmogenic right ventricular cardiomyopathy/dysplasia in an adolescent with KDS.

Area of Science:

  • Endocrinology
  • Cardiology
  • Genetics

Background:

  • Kocher-Debre-Semelaigne (KDS) syndrome is a rare congenital hypothyroidism condition causing muscle hypertrophy.
  • Cardiac involvement in KDS is infrequently reported, primarily limited to pericardial effusion.
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic heart muscle disease.

Observation:

  • An adolescent male presented with the characteristic features of KDS syndrome.
  • The patient exhibited symptoms consistent with KDS, including muscle hypertrophy.
  • Cardiac evaluation revealed the presence of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D).

Findings:

  • This case represents the first documented instance of ARVC/D associated with KDS syndrome.
  • The co-occurrence of KDS and ARVC/D suggests a potential, previously unrecognized link between these conditions.
  • Detailed clinical and diagnostic findings are presented for this unique patient presentation.

Implications:

  • This finding expands the spectrum of cardiac manifestations associated with KDS.
  • It highlights the importance of comprehensive cardiac screening in patients diagnosed with KDS.
  • Further research may elucidate shared genetic or pathophysiological mechanisms between KDS and ARVC/D.

Keywords:
Arrhythmogenic right ventricular cardiomyopathyKocher-Debre-Semelaigne syndromecongenital hypothyroidismechocardiography

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