Genetic considerations for adults with congenital heart disease
| Autor: | Anitha S. John, Seiji Ito, Monisha S. Kisling, Kimberly A. Chapman |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Adult Heart Defects Congenital Pediatrics medicine.medical_specialty Heart disease DNA Copy Number Variations Genetic counseling Population 030105 genetics & heredity Congenital Abnormalities 03 medical and health sciences Chromosome Duplication Genetics medicine Humans cardiovascular diseases Copy-number variation Genetic Testing education Genetics (clinical) Genetic testing education.field_of_study medicine.diagnostic_test business.industry Incidence (epidemiology) Genetic Diseases Inborn Precision medicine medicine.disease Aneuploidy 030104 developmental biology Etiology Chromosome Deletion business |
| Zdroj: | American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(1) |
| ISSN: | 1552-4876 |
| Popis: | Congenital heart disease (CHD) remains the most common birth defect, with an estimated incidence of approximately 1% of all births. The population of adults with CHD is growing rapidly with advances in medical care. Overall survival to adulthood in the current era estimated to exceed 90%. Genetic causes of CHD can be classified into several broad categories: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. However, only 20-30% of CHD cases have an established etiology characterized by either genetic abnormalities or environmental factors. The role of genetics in the field of adult CHD is only increasing. More adult patients with CHD are seeking genetic counseling to understand the etiology of their underlying CHD and the risks to future offspring. A multidisciplinary approach is essential to provide appropriate counseling to patients regarding indications for genetic testing and interpretations of results. Novel advances with precision medicine may soon enable clinicians to individualize therapies for a comprehensive approach to the care of adult patients with CHD. |
| Databáze: | OpenAIRE |
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