[MIM 115 000]

(VACRDS, acronym for Ventricular Arrhythmias due to Cardiac Ryanodine Receptor calcium release Deficiency Syndrome (VACRDS)

Very rare. Autosomal dominant transmission of a loss of function mutation of the RYR2 gene (1q43). Other gain of function mutations of the same gene can cause catecholaminergic polymorphic ventricular tachycardia type 1 [MIM 604 772] and arrhythmogenic dysplasia of the right ventricle type 2 [MIM 600 996] (see these terms). Ventricular rhythm disorder characterized by syncope, cardiac arrest or sudden death. Polymorphic ventricular tachycardia and ventricular fibrillation (sometimes referred to as idiopathic ventricular fibrillation) are also described. These symptoms are usually triggered by exercise or emotional stress, but cannot be caused during a stress test or adrenaline test, unlike typical catecholaminergic polymorphic ventricular tachycardia.

Treatment: given the rarity of the syndrome, it is poorly established: beta-blockers, flecainamide, automatic internal defibrillator

Anesthetic implications:

keep that diagnosis in mind in case of familial history of sudden death or ventricular tachycardia during exertion. Major risk of sudden death in the perioperative period. There is no risk of malignant hyperthermia despite the mutation of the cardiac isoform of the ryanodine receptor gene;  ready-to-use esmolol and defibrillation pallets in place; avoid stress (premedication, presence of a parent). By analogy with catecholaminergic polymorphic ventricular tachycardia, avoid ketamine because it induces tachycardia.

In case of cardiac arrest: low doses of adrenaline as it could worsen rhythm disorders and amiodarone is ineffective.

In case of locoregional block: avoiding the addition of adrenaline to the local anesthetic solution ?

Avoid all triggering factors of cardiac rhythm disorders: hypoxia, hypercarbia, hypovolemia, light anesthesia, placement of a Swan-Ganz catheter.

References : 

-        Sawn H, Laitinen PJ, Toivonen L.
Volatile anesthetics and succinylcholine in cardiac ryanodine receptor defects.
Anesth Analg 2004 ; 99 : 435

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

-        Sun B, Yao X, Ni M, Guo JWZ, Wang LZ  et al.
Cardiac ryanodine receptor calcium release deficiency syndrome.  
Science Translational Medicine 2021 ; 13, Issue 579,  DOI: 10.1126/scitranslmed.aba7287

-        Roston TM,  Wei J, Guo W, Li Y, MD, Zhong X, Wang R, Estillore JP, Peltenburg PJ et al.
Clinical and functional characterization of Ryanodine receptor 2 variants implicated in Calcium-Release Deficiency Syndrome.
JAMA Cardiol. doi:10.1001/jamacardio.2021.4458

Updated: November 2021