Table 3.

Genes of Interest in the Differential Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia

Gene(s)DisorderMOIFeatures of This Disorder Overlapping w/CPVTComment / Distinguishing Features
DSC2
DSG2
DSP
JUP
PKP2
RYR2
TGFB3
TMEM43 		Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC)AD
(AR) 1		Progressive fibrofatty replacement of myocardium that predisposes to VT & sudden death in young persons & athletes. It primarily affects right ventricle; w/time, may also involve left ventricle.Persons w/CPVT do not have structural cardiac abnormalities. The evidence of overlapping phenotypes (see Genetically Related Disorders) calls for careful imaging assessment (echocardiogram, MRI) for manifestations of ARVC in all persons w/CPVT.
KCNQ1 Long QT syndrome type 1 (LQT1)ADExercise-related syncope is also typically found in LQT1 variant of LQTS. As incomplete penetrance is possible in LQT1, some persons may have normal QT interval & may present w/clinical history similar to CPVT (exercise-related syncope; normal EKG).Unlike CPVT, LQT1 does not present w/inducible arrhythmia during graded exercise (exercise stress test). The initial description of CPVT by Philippe Coumel included persons w/borderline or mildly prolonged QT interval.

AD = autosomal dominant; AR = autosomal recessive; CPVT = catecholaminergic polymorphic ventricular tachycardia; LQTS = long QT syndrome; MOI = mode of inheritance; VT = ventricular tachycardia

1.

ARVC is usually inherited in an autosomal dominant manner. It can also be inherited in a digenic or autosomal recessive manner.

2.

From: Catecholaminergic Polymorphic Ventricular Tachycardia

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