A 15 year old boy brought by his father to your clinic with complain of loss of consciousness while playing football

Catecholaminergic polymorphic ventricular tachycardia, CPVT

A 15 year old boy brought by his father to your clinic with complain of loss of consciousness while playing football. He had two episodes of syncope in past after failing the exam. His physical examination revealed no murmur/ additional heart sound. His ECG and echocardiography both were normal. He underwent ETT which showed NSVT with changing axis

a. What is diagnosis?

b. How will you treat him initially?

c. When ICD is indicated?

d. Name the genetic mutation

e. Name the treatment option apart from ICD and medical therapy

Answers:

a.      CPVT

b.      Avoidance of competitive sports (football) Beta-blockers class I

c.
Aborted cardiac arrest

Recurrent Bidirectional or polymorphic VT despite optimal medical therapy

Recurrent syncope despite optimal medical therapy

d.      Cardiac Ryanodine receptor 2 (RYR2)

e.      LCSD (Left cardiac sympathetic denervation)

References:

2015 ECS guidelines
Syncope guidelines 2017

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