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Carvajal, syndrome
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see also arrhythmogenic right ventricular cardiomyopathy [MIM 605 676]
(KWWH type II, woolly hair - palmoplantar hyperkeratosis - dilated cardiomyopathy, DCWHR - acronym for Dilated Cardiomyopathy Woolly Hair Keratoderma -type II, KWWH type II)
See also Arrhythmogenic right ventricular cardiomyopathy and Naxos disease
Very rare: incidence < 1.106. Autosomal recessive transmission of a homozygous mutation of the DSP gene (6p24) coding for desmoplaquin, a protein of the desmosomes. More recently, a mutation of the DSC21 gene (18q12.1) [MIM 610 476] has been described.
Association of an arrhythmogenic left ventricular cardiomyopathy with a particular phenotype: woolly hair at birth and palmoplantar keratodermia appearing around 1 year of age. The cardiomyopathy presents during infancy as a dilated cardiomyopathy. Half of the cases evolve to congestive cardiac failure with death in adolescence. Risk of sudden death during or after exercise. Many cases have been reported in Ecuador and India.
A heterozygous mutation of the same gene causes a similar clinical presentation with a dental agenesis in addition [MIM 615 821]: DCWHKKTA - acronym for Dilated Cardiomyopathy Woolly Hair Keratoderma Tooth Agenesis.
Unlike Naxos disease and the arrhythmogenic right ventricular cardiomyopathy, the normal myocardial tissue is mostly replaced by collagen tissue and little or no fatty tissue.
Treatment: antiarrhythmics (cordarone, sotalol, β-blockers), catheter ablation, implanted defibrillator, heart failure, cardiac transplantation.
Anesthetic implications:
keep that diagnosis in mind in case of a family history of sudden death or ventricular tachycardia caused by exercice. Major risk of sudden death in the perioperative period. Management of a patient with a dilated cardiomyopathy and/or an implanted defibrillator.
References :
Updated: November 2019