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A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany.

Authors
  • Pickardt, Thomas1
  • Niggemeyer, Eva2
  • Bauer, Ulrike M M3
  • Abdul-Khaliq, Hashim4
  • 1 National Register for Congenital Heart Defects, 13353 Berlin, Germany. Electronic address: [email protected]
  • 2 National Register for Congenital Heart Defects, 13353 Berlin, Germany.
  • 3 National Register for Congenital Heart Defects, 13353 Berlin, Germany; Competence Network for Congenital Heart Defects, 13353 Berlin, Germany.
  • 4 Saarland University Medical Center, Department of Paediatric Cardiology, 66421 Homburg, Germany; Competence Network for Congenital Heart Defects, 13353 Berlin, Germany.
Type
Published Article
Journal
Genomics, proteomics & bioinformatics
Publication Date
August 2016
Volume
14
Issue
4
Pages
181–190
Identifiers
DOI: 10.1016/j.gpb.2016.03.003
PMID: 27132144
Source
Medline
Keywords
License
Unknown

Abstract

Congenital heart disease (CHD) is the most frequent birth defect (0.8%-1% of all live births). Due to the advance in prenatal and postnatal early diagnosis and treatment, more than 90% of these patients survive into adulthood today. However, several mid- and long-term morbidities are dominating the follow-up of these patients. Due to the rarity and heterogeneity of the phenotypes of CHD, multicenter registry-based studies are required. The CHD-Biobank was established in 2009 with the aim to collect DNA from patients and their parents (trios) or from affected families, as well as cardiovascular tissues from patients undergoing corrective heart surgery for cardiovascular malformations. Clinical/phenotype data are matched to the International Paediatric and Congenital Cardiac Code (IPCCC) and the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10). The DNA collection currently comprises samples from approximately 4200 participants with a wide range of CHD phenotypes. The collection covers about 430 trios and 120 families with more than one affected member. The cardiac tissue collection comprises 1143 tissue samples from 556 patients after open heart surgery. The CHD-Biobank provides a comprehensive basis for research in the field of CHD with high standards of data privacy, IT management, and sample logistics.

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