The Medical journal of Australia
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About 80% of congenital heart disease (CHD) is multifactorial and arises through various combinations of genetic and environmental contributors. About 20% of cases can be attributed to chromosomal anomalies, Mendelian syndromes, non-syndromal single gene disorders or teratogens. Down syndrome and velocardiofacial syndrome are the most commonly seen syndromes in patients with CHD. ⋯ Generally, the recurrence risk increases if a parent rather than a sibling is affected, particularly when the affected parent is the mother. Individualised recurrence risks can be generated for members of families affected by CHD after obtaining a detailed family history, including accurate cardiac diagnoses for all affected members. High-throughput genetic techniques can accelerate gene discovery and improve our ability to provide individualised genetic counselling.
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To describe the design, development and implementation of an organ and tissue donation after cardiac death (DCD) program, evaluate its success and assess its impact on tissue and organ availability and the number of donors after brain death. ⋯ Successful implementation of a DCD program is possible and has led to an increase in overall donor numbers and organs transplanted without any reduction in DBrD donors. The widespread implementation of DCD across Australia may help reduce the shortfall of organs for transplantation.