Key result
Burst exercise stress testing aids in diagnosing CPVT, and nadolol is the preferred beta-blocker, while calcium release deficiency syndrome presents a distinct phenotype requiring novel protocols.
Why the study?
To review the current diagnosis and management of CPVT and describe calcium release deficiency syndrome (CRDS), a newly recognized entity associated with loss-of-function RYR2 variants.
This review highlights the utility of burst exercise stress testing and nadolol in CPVT management, and introduces calcium release deficiency syndrome (CRDS) as a distinct RYR2-associated arrhythmic entity.
Answers are grounded in this paper and cite their sources.
Distinguishing CRDS from CPVT may refine RYR2 variant risk assessment; leaves open prospective validation of phenotype-specific management.
PURPOSE OF REVIEW: Gain-of-function variants in the gene encoding the cardiac ryanodine receptor ( RYR2 ) are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). The exercise stress test (EST) has long been fundamental in diagnosis and management, but recent work has further explored its role. A new entity termed calcium release deficiency syndrome (CRDS) has been associated with loss-of-function RYR2 variants and a different arrhythmic phenotype. RECENT FINDINGS: Standard EST is not perfectly reproducible with regards to provocation of arrhythmia in CPVT. A newly described burst EST protocol may be more sensitive in this regard. Nadolol is the most effective beta blocker in CPVT, though arrhythmic events remain frequent and dual therapy with flecainide and/or left cardiac sympathetic denervation may add protection. A recent report renews debate regarding the use of implantable defibrillator therapy in CPVT. CRDS is characterized by later age of presentation, normal/near normal EST, and ventricular arrhythmia induced by a novel ventricular stimulation protocol. SUMMARY: Burst EST may aid in the diagnosis and management of CPVT. Nadolol is the preferred beta blocker in CPVT, and consideration should be given to early dual therapy. CRDS should be suspected in patients with arrhythmic events, rare RYR2 variants, and a phenotype inconsistent with CPVT.
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Przybylski et al. (2023) conducted a review in Inherited arrhythmia syndromes associated with the cardiac ryanodine receptor (CPVT and CRDS). Burst exercise stress test and nadolol was evaluated. Burst exercise stress testing aids in diagnosing CPVT, and nadolol is the preferred beta-blocker, while calcium release deficiency syndrome presents a distinct phenotype requiring novel protocols.
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