Background .– DNA banks containing samples of patients with congenital heart disease are being developed at international level. The accurate anatomic description of the cardiac phenotype of such samples is a key feature for their success.
Objective and methods .– To precisely describe the cardiac phenotype of the available samples of the “CARREG” DNA bank, started in April 2009 in our institution, based on the recently published clinical and anatomic classification (ACC-CHD) and the International Pediatric and Congenital Cardiac Code (IPCCC). Samples collected from 01.04.2009 to 31.10.2011 were classified retrospectively based on medical records including surgical and imaging reports. Samples collected from 01.11.2011 onwards were classified prospectively.
Results .– Since creation of the DNA bank, 2364 blood samples have been collected after informed consent of patients and their legal representatives. They are stored in a dedicated space of the institution’s general DNA bank. Among them, there are 1299 patients’ samples and 1065 samples belonging to parents or relatives. Four hundred and sixteen triple samples (patient and both parents) have been obtained. One hundred and fifty-eight samples come from families with at least two members affected by congenital heart disease. Eighty-eight samples belong to patients without congenital cardiac defects but with other severe cardiac pathologies. Six hundred and fifty-two patient samples (50%) were coded retrospectively. Based on the ACC-CHD classification, “CARREG” contains 658 samples (51%) belonging to the group 8 (anomalies of the outflow tract). One hundred and fifty-two samples (12%) were attributed to group 4 (anomalies of the atrioventricular valve). The remaining samples were classified in group 1: 41 (3%), group 2: 22 (2%), group 3: 85 (7), group 5: 31 (2%), group 6: 62 (5%), group 7: 55 (4%), group 9: 95 (7%) and group 10: 9 (1%).
Perspectives .– To make international comparison and data exchange easier, cardiac phenotyping in “CARREG” relies on IPCCC and the newly developed ACC-CHD. First cooperations with national and international research partner are in progress. The development of a limited access website as communicative platform for researches will be one of the major goals in the near future.