Genetics of Congenital Heart Disease

This chapter provides some insight into known congenital heart disease (CHD) inheritance patterns and recurrence risk and reviews the newest findings regarding the genetic basis of CHD. It provides a conceptual framework for the relationship between genomic variation and CHD. A subsequent iteration of the HapMap, the 1000 Genomes Project, confirmed that >95% of variation within an individual genome is common. This does not mean that individual genomes are overwhelmingly similar, but rather that most genetic variants are found repeated in human populations. By 2010, capacity for whole-exome sequencing technology matured sufficiently to permit cost-effective genome-wide discovery of rare sequence variants. Common and rare de novo mutations are important types of sequence variation that contribute to human disease. However, larger structural variations that result from aberrant meiotic recombination are called copy number variants.