see ventricular arrhythmogenic right cardiomyopathy

[MIM 601 214]

(DCWHK  - acronym for Dilated Cardiomyopathy Woolly Hair Keratoderma -type I, KWWH type I)

see also Arrhythmogenic right ventricular cardiomyopathy

Very rare.  Autosomal recessive transmission of a mutation of the JUP gene (17q21) coding for plakoglobin,  a protein of the desmosomes. Association of a right ventricular arrhythmogenic cardiomyopathy and a particular skin phenotype: woolly hair since birth and palmo-plantar keratoderma that appears around one year of age. Cardiomyopathy is manifests at adolescence with congestive heart failure, first of the right ventricle then global. Risk of sudden death during or after exercise.

Initially described in the Greek island of Naxos, is also found in Turkey, Saudi Arabia and Israel.

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

Anesthetic implications: 

major risk of sudden death in the perioperative period. Management for a patient with a dilated cardiomyopathy and/or an implanted automatic defibrillator (to be stopped during the surgery).

References : 

• Staikou C, Chondrogiannis K, Mani A. 
  Perioperative management of hereditary arrhythmogenic syndromes. 
  Br J Anaesth 2012; 108: 730-44.
• Protonotarios N, Tsatsopolou A. 
  Naxos disease : cardiocutaneous syndrome due to cell adhesion defect. 
  Orphanet J Rare Diseases 2006 ; doi :10.1185/1750-1172-1-4

Updated: November 2019