Just Sinus Bradycardia or Something More Serious?

An asymptomatic 5-year-old girl presented with bradycardia during a routine well-child visit. Further evaluation revealed profound sinus bradycardia, exercise-induced bidirectional ventricular tachycardia, and supraventricular tachycardia. An echocardiogram showed heavy trabeculations in the left ve...

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Bibliographic Details
Published in:Case reports in pediatrics 2013-01, Vol.2013 (2013), p.1-5
Main Authors: Egan, Kelly R., Ralphe, J. Carter, Weinhaus, Larry, Maginot, Kathleen R.
Format: Article
Language:English
Subjects:
Cardiac arrhythmia
Cardiovascular disease
Case Report
Colleges & universities
Electrocardiography
Families & family life
Fitness equipment
Heart failure
Mutation
Patients
Proteins
Public health
Sinuses
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Summary:An asymptomatic 5-year-old girl presented with bradycardia during a routine well-child visit. Further evaluation revealed profound sinus bradycardia, exercise-induced bidirectional ventricular tachycardia, and supraventricular tachycardia. An echocardiogram showed heavy trabeculations in the left ventricular myocardium. This patient’s presentation suggested catecholaminergic polymorphic ventricular tachycardia and left ventricular noncompaction. Genetic testing revealed mutations in the cardiac ryanodine receptor (RyR2), calsequestron (CASQ2), and titin (TTN). She was effectively treated with beta-blockade to suppress tachyarrhythmias and pacemaker implantation to treat her bradycardia.
ISSN:2090-6803
2090-6811
DOI:10.1155/2013/736164