Key result
Review summarizes the genetic basis of CHD and provides clinical evaluation algorithms.
Why the study?
A comprehensive summary of the genetic contribution to congenital heart disease and evaluation techniques for affected children is needed to inform clinicians.
This review provides an updated summary and clinical algorithms for the genetic evaluation of patients with congenital heart disease to encourage an interdisciplinary approach.
May guide age-specific genetic evaluation in congenital heart disease; extends evidence synthesis but leaves optimal protocols open for validation.
The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease.
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Pierpont et al. (2007) conducted a review in Congenital heart disease. This review summarizes current knowledge on the genetic basis of congenital heart disease and provides clinical evaluation techniques and algorithms for clinicians.
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