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Top Things to Know:
Genetic Testing for Inherited Cardiovascular Diseases

Prepared by: Sally S. Wong, PhD, RD, CDN, FAHA, Senior Science & Medicine Advisor

  1. This scientific statement summarizes current best practices for genetic testing in cardiovascular medicine, recognizing that genetic testing methods are evolving, and practices may change.
  2. This statement focuses primarily on genetic testing for inherited cardiovascular disorders deemed to be largely monogenic in nature; it omits complex disorders such as polygenic disorders.
  3. Advances in human genetics are improving the understanding of various inherited cardiovascular diseases (CVD), including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia (FH).
  4. Genetic testing should typically be reserved for patients with a confirmed or suspected diagnosis of an inherited CVD or for individuals at high a priori risk due to a previously identified pathogenic variant in their family.
  5. The process of genetic testing differs from traditional laboratory-based testing in that it requires baseline competence in genetic knowledge and practice and typically benefits from interactions between providers and genetics professionals.
  6. The return of any genetic testing results to a patient should be accompanied by counseling so the patient understands fully the implications of the results for their health and, potentially, the health of family members.
  7. Patients with genetic, familial, or other unexplained forms of cardiomyopathy should be referred to expert centers. Genetic testing should be offered to all patients diagnosed with all recognized forms of cardiomyopathy.
  8. Genetic testing should be offered to patients with: long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and progressive cardiac conduction disease.
  9. For cardiac arrest survivors, testing should be reserved for patients with a clinical index of suspicion for a specific cardiomyopathy or channelopathy; otherwise, testing is not indicated.
  10. Genetic testing for FH is expected to result in a higher rate of diagnosis among FH patients, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.

View the full Science News coverage for Genetic Testing for Inherited Cardiovascular Diseases

Citation

Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC; on behalf of the American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020;13:e000067. doi: 10.1161/HCG.0000000000000067.