Infant Medical Records: Case Report Proposal

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).

Study Overview

• Status: Terminated
• Conditions: Congenital Disorders

Detailed Description

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.

• Study Type: Observational
• Enrollment: 1

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Chldren's Healthcare of Atlanta

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 21 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

Description

Inclusion Criteria:

• Congenital long QT Syndrome single case report

Exclusion Criteria:

• Single case report

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Children's Healthcare of Atlanta
• Investigators: Principal Investigator: Tracy Froehlich, MD, Children's Healthcare of Atlanta

Study record dates

Study Major Dates

• Study Start: September 1, 2004

Study Registration Dates

• First Submitted: December 20, 2005
• First Submitted That Met QC Criteria: December 20, 2005
• First Posted (Estimate): December 22, 2005

Study Record Updates

• Last Update Posted (Estimate): May 7, 2007
• Last Update Submitted That Met QC Criteria: May 3, 2007
• Last Verified: May 1, 2007

More Information

Terms related to this study

• Keywords: pediatric; cardiac; Pacemaker; Long QT Syndrome; Herg mutation
• Other Study ID Numbers: 05-050