This study is currently not recruiting participants.

Cytogenomics of Cardiovascular Malformations Consortium Registry

Investigating Chromosomal Imbalances in Congenital Heart Defects

Not Recruiting
100 years or below
All
Phase N/A

Brief description of study.

The purpose of this study is to identify submicroscopic chromosomal imbalances, termed copy number variations (CNV), which are associated with the development of congenital heart defects (CHD) and cardiovascular malformations and to establish a large de-identified database of chromosome microarray abnormalities in patients with CHD.

Detailed description of study

The purpose of this study is to identify submicroscopic chromosomal imbalances, termed copy number variations (CNV), which are associated with the development of congenital heart defects (CHD) and cardiovascular malformations and to establish a large de-identified database of chromosome microarray abnormalities in patients with CHD.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Cardiovascular Malformation
  • Age: 100 years or below
  • Gender: All

The purpose of this study is to investigate submicroscopic chromosomal imbalances, known as copy number variations (CNV), that may be linked to congenital heart defects (CHD) and cardiovascular malformations. Congenital heart defects are problems with the heart's structure that are present at birth. This study aims to understand how CNVs contribute to these conditions.

Participants in the study will undergo chromosome microarray testing. This test is a detailed examination of chromosomes to find any imbalances that could be related to CHD. The results will help build a large database of chromosome abnormalities found in patients with these heart conditions.

  • Who can participate: Eligibility criteria include individuals diagnosed with congenital heart defects or related cardiovascular malformations. Specific age ranges or additional criteria were not provided.
  • Study details: Participants will have their chromosomes analyzed through microarray testing. This involves studying the chromosomes for any imbalances that might be linked to congenital heart defects.
Updated on 19 Feb 2024. Study ID: 1408953015

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