To send content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about sending content to .
To send content items to your Kindle, first ensure email@example.com
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Our understanding about the genetic influences on human disease has increased dramatically with the technological developments in genome and DNA analysis and the discovery of the human genome sequence. Whilst much remains unexplained, it is obvious that normal cardiac development is controlled by the genome and there is significant evidence that a proportion of cardiac malformations are caused by genetic factors. This is important for clinicians as an understanding of confirmed genetic factors is essential to estimate recurrence risks of congenital heart disease (CHD) within families and also screen for predicted associated anomalies. An accurate genetic diagnosis can provide important prognostic information for both the initial patient (proband) and other family members, for whom further genetic investigations may be indicated. There is likely to be a continued increase in demand for such investigations as improvement in surgical and medical management allows more individuals with CHD to survive to reproductive age and have families of their own. For some, the recurrence risk for a cardiac malformation may be as high as 50%; the actual figure varies with different genetic diagnoses. Accurate risk stratification is likely to become increasingly important and the rapidly developing technologies to detect genetic variation mean that genome-wide investigation is becoming more widely available in the clinical setting. An aim of this chapter is to introduce clinicians to principles that will help them embrace and understand the results from these investigations and appreciate the implications they have for their patients.
Congenital heart disease (CHD) is one of the commonest human birth defects, with a widely reported birth incidence of just less than 1%, and it accounts for one-third of infant deaths that result from congenital malformation. Epidemiological studies have long suggested that genetic factors may have a contribution to cardiac maldevelopment in humans. Mapping genes by linkage seeks to identify which DNA sequences have been inherited in common by affected individuals in families with multiple members suffering from the genetic disease. Many disease genes have also been identified by studying individuals with a chromosomal rearrangement, such as a translocation, where a piece of chromosomal material breaks of and rejoins to another chromosome. The first draft of human genome sequence was published in 2001 and in 2003 the International Human Genome Sequencing Consortium announced a finished version which detailed the entire DNA sequence of each chromosome.
Email your librarian or administrator to recommend adding this to your organisation's collection.