see also arrhythmogenic right ventricular cardiomyopathy and Carvajal syndrome [MIM 615 821]

Very rare. Autosomal recessive transmission of a heterozygouszygous mutation of the DSP gene (6p24.3)  coding for desmoplaquin, a protein of the desmosomes. . Risk of sudden death during exercise or after exercise.

Association of

-        a dilated cardiomyopathy affecting mainly the left ventricle: half of the cases progress towards congestive heart failure and death in adolescence.  Unlike in Naxos disease and  right ventricular dysplasia arrhythmogenic cardiomyopathy, normal myocardial tissue is mostly replaced by collagen tissue and little or no fatty tissue. Risk of sudden death during or after exercise due to ventricular tachycardia caused by right ventricular arrhythmogenic cardiomyopathy

-        presence of 'woolly' hair since birth

-        palmo-plantar keratoderma appearing around one year of age.

-        agenesis of teeth

Treatment: antiarrhythmics (cordarone, sotalol, â-blockers), catheter ablation, implanted defibrillator, heart failure, cardiac transplantation.

Anesthetic implications:

family history of sudden death or ventricular tachycardia during an effort. Major risk of sudden death in the perioperative period. Management for a patient with a dilated cardiomyopathy and/or an implanted defibrillator.

References :

• Staikou C, Chondrogiannis K, Mani A.
  Perioperative management of hereditary arrhythmogenic syndromes.
  Br J Anaesth 2012; 108: 730-44.

Updated: November 2019