Racial Distribution of Heterotaxy Syndrome

NCT ID: NCT00485654

Last Updated: 2012-03-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

65 participants

Study Classification

OBSERVATIONAL

Study Start Date

1990-01-31

Study Completion Date

2008-02-29

Brief Summary

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Heterotaxy syndrome is a heterogeneous disease that is the result of a failure of normal right-left lateralization of the abdominal and thoracic organs during development. The major clinical manifestations include intestinal malrotation, functional asplenia and complex cyanotic heart disease.

Hypothesis: There exists a yet, un-recognized, racial distribution in heterotaxy syndrome.

Detailed Description

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The exact etiology of heterotaxy is unknown, but presumed to be multifactorial. While candidate genes have been suggested, no common gene has proven responsible for this constellation of lesions. Various modes of inheritance have been described. Though there are reports of familial occurrences, no reports of racial/ethnic predominance exist. We, therefore, propose to examine the racial/ethnic distribution of heterotaxy syndrome with congenital heart disease in patients treated at this institution. In addition, the investigators will determine if race/ethnicity is a factor in clinical outcomes.

Aim 1: To determine any pattern of racial/ethnic predominance within a cohort of patients with heterotaxy syndrome with congenital heart disease.

Aim 2: To correlate race/ethnicity with disparities in morbidity and mortality in patients with heterotaxy syndrome with congenital heart disease.

This study will be a retrospective, chart review of approximately 90 - 100 medical charts, conducted on the Egleston campus of Children's Healthcare of Atlanta. Charts reviewed will cover a period between January 1, 1990 and December 31, 2005.

Data to be collected includes: DOB, diagnosis, surgical procedure, surgical outcome, survival, length of hospitalization, repeat surgical intervention, incidence of hospitalization, length of inotropic support, ventilator time, infection rate, insurance provider, list of antibiotics and zip code of residence at initial admission. In addition to the above information, data to be extracted from the medical chart of a decedent will include age at death, cause of death, laboratory data at time of death and autopsy results.

Conditions

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Congenital Disorders

Study Design

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Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* All medical charts diagnosed clinically and at autopsy with heterotaxy syndrome, left atrial isomerism, right atrial isomerism or situs inversus totalis with congenital heart disease over a 16 consecutive year period at Children's Healthcare of Atlanta at Egleston.
Maximum Eligible Age

21 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's Healthcare of Atlanta

OTHER

Sponsor Role lead

Responsible Party

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Children's Healthcare of Atlanta Institutional Review Board

Principal Investigators

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Rose M Cummings, DO

Role: PRINCIPAL_INVESTIGATOR

Sibley Heart Center Cardiology at Children's Healthcare of Atlanta

Locations

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Children's Healthcare of Atlanta

Atlanta, Georgia, United States

Site Status

Countries

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United States

Other Identifiers

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06-198

Identifier Type: -

Identifier Source: org_study_id

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