Congenital Disorders Clinical Trial
Official title:
Baby R. Case Report Proposal
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have
been recognized as a clinical subset of children with LQTS.
The purpose of this study is to describe the clinical course and outcome of a patient with
congenital long QT syndrome (LQTS).
It has been previously reported that 2:1 AVB in neonatal LQTS seems preferentially
associated with HERG mutations . It has also been reported in association with the SCN5A
gene. We report on a neonate with congenital LQTS and congenital complete heart block who
experienced frequent episodes of torades des pointe and ventricular tachycardia, which, over
the first 2 days of life, was recalcitrant to traditional therapy of beta-blockers and other
antiarrhythmics. Eventually hypotension necessitated the use of an epinephrine infusion,
which halted the ventricular tachyarrhythmias. A pacemaker was implanted once the infant was
stable and, currently, he is thriving. Genetic analysis revealed a HERG mutation.
For this study, we will need access to the infant’s inpatient and outpatient medical records
at Children's Healthcare of Atlanta at Egleston Children’s Hospital and Sibley Heart Center
Cardiology to include his age, date of birth, medical record number, inpatient labs,
inpatient echo reports, outpatient echo reports, inpatient and outpatient EKG’s, inpatient
pharmacy records, the results of his genetic analysis, his history and physical, transfer
notes, daily progress notes, consultation reports and operative reports from his admission
beginning 9/30/04.
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