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2016 ; 14
(4
): 181-90
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A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart
Disease in Germany
#MMPMID27132144
Pickardt T
; Niggemeyer E
; Bauer UM
; Abdul-Khaliq H
Genomics Proteomics Bioinformatics
2016[Aug]; 14
(4
): 181-90
PMID27132144
show ga
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.