Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

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Abstract

Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia. However, not all cardiovascular practitioners are fully aware of the utility and potential pitfalls of incorporating genetic test results into the care of patients and their families. This statement summarizes current best practices with respect to genetic testing and its implications for the management of inherited cardiovascular diseases.

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Most cited references 28

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The RASopathies.

Katherine Rauen (2013)

The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. Because of the common underlying Ras/MAPK pathway dysregulation, the RASopathies exhibit numerous overlapping phenotypic features. The Ras/MAPK pathway plays an essential role in regulating the cell cycle and cellular growth, differentiation, and senescence, all of which are critical to normal development. Therefore, it is not surprising that Ras/MAPK pathway dysregulation has profound deleterious effects on both embryonic and later stages of development. The Ras/MAPK pathway has been well studied in cancer and is an attractive target for small-molecule inhibition to treat various malignancies. The use of these molecules to ameliorate developmental defects in the RASopathies is under consideration.

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Is Open Access

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

Arnon Adler, Valeria Novelli, Ahmad S. Amin … (2020)

Supplemental Digital Content is available in the text.

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Author and article information

Journal

Title: Circulation: Genomic and Precision Medicine

Abbreviated Title: Circ: Genomic and Precision Medicine

Publisher: Ovid Technologies (Wolters Kluwer Health)

ISSN (Print): 2574-8300

ISSN (Electronic): 2574-8300

Publication date (Electronic): July 23 2020

Article

DOI: 10.1161/HCG.0000000000000067

PubMed ID: 32698598

SO-VID: 9c8d42cb-e36f-4429-adf3-f7bc63a68141

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