Infant Medical Records: Case Report Proposal

This study has been terminated.
Information provided by:
Children's Healthcare of Atlanta Identifier:
First received: December 20, 2005
Last updated: May 3, 2007
Last verified: May 2007

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).

Congenital Disorders

Study Type: Observational
Study Design: Observational Model: Defined Population
Time Perspective: Longitudinal
Official Title: Baby R. Case Report Proposal

Resource links provided by NLM:

Further study details as provided by Children's Healthcare of Atlanta:

Estimated Enrollment: 1
Study Start Date: September 2004
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.


Ages Eligible for Study:   up to 21 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Congenital long QT Syndrome single case report

Exclusion Criteria:

  • Single case report
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00268060

United States, Georgia
Chldren's Healthcare of Atlanta
Atlanta, Georgia, United States, 30322
Sponsors and Collaborators
Children's Healthcare of Atlanta
Principal Investigator: Tracy Froehlich, MD Children's Healthcare of Atlanta
  More Information

No publications provided Identifier: NCT00268060     History of Changes
Other Study ID Numbers: 05-050
Study First Received: December 20, 2005
Last Updated: May 3, 2007
Health Authority: United States: Food and Drug Administration

Keywords provided by Children's Healthcare of Atlanta:
Long QT Syndrome
Herg mutation processed this record on November 25, 2015