Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association

Ferhaan Ahmad, Elizabeth M. McNally, Michael John Ackerman, Linda C. Baty, Sharlene M. Day, Iftikhar Jan Kullo, Peace C. Madueme, Martin S. Maron, Matthew W. Martinez, Lisa Salberg, Matthew R. Taylor, Janel E. Wilcox

Research output: Contribution to journalArticle

Abstract

Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine, and its growth is attributed to advances in genome sequencing and genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions, including arrhythmias (channelopathies), heart failure (cardiomyopathies), lipid disorders, cardiac complications of neuromuscular conditions, and vascular disease, including aortopathies. There have also been great advances in clinical diagnostic methods, as well as in therapies to ameliorate symptoms, slow progression of disease, and mitigate the risk of adverse outcomes. Emerging challenges include interpretation of genetic test results and the evaluation, counseling, and management of genetically at-risk family members who have inherited pathogenic variants but do not yet manifest disease. With these advances and challenges, there is a need for specialized programs combining both cardiovascular medicine and genetics expertise. The integration of clinical cardiovascular findings, including those obtained from physical examination, imaging, and functional assessment, with genetic information allows for improved diagnosis, prognostication, and cascade family testing to identify and to manage risk, and in some cases to provide genotype-specific therapy. This emerging subspecialty may ultimately require a new cardiovascular subspecialist, the genetic cardiologist, equipped with these combined skills, to permit interpretation of genetic variation within the context of phenotype and to extend the utility of genetic testing. This scientific statement outlines current best practices for delivering cardiovascular genetic evaluation and care in both the pediatric and the adult settings, with a focus on team member expertise and conditions that most benefit from genetic evaluation.

Original languageEnglish (US)
Pages (from-to)e000054
JournalCirculation. Genomic and precision medicine
Volume12
Issue number6
DOIs
StatePublished - Jun 1 2019

Fingerprint

Genetic Testing
Medicine
Channelopathies
Neuromuscular Diseases
Cardiomyopathies
Vascular Diseases
Practice Guidelines
Physical Examination
Disease Progression
Counseling
Cardiac Arrhythmias
Heart Failure
Genotype
Genome
Pediatrics
Phenotype
Lipids
Therapeutics
Growth
Cardiologists

Keywords

  • AHA Scientific Statements
  • genetic testing
  • genetics

Cite this

Establishment of Specialized Clinical Cardiovascular Genetics Programs : Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. / Ahmad, Ferhaan; McNally, Elizabeth M.; Ackerman, Michael John; Baty, Linda C.; Day, Sharlene M.; Kullo, Iftikhar Jan; Madueme, Peace C.; Maron, Martin S.; Martinez, Matthew W.; Salberg, Lisa; Taylor, Matthew R.; Wilcox, Janel E.

In: Circulation. Genomic and precision medicine, Vol. 12, No. 6, 01.06.2019, p. e000054.

Research output: Contribution to journalArticle

Ahmad, Ferhaan ; McNally, Elizabeth M. ; Ackerman, Michael John ; Baty, Linda C. ; Day, Sharlene M. ; Kullo, Iftikhar Jan ; Madueme, Peace C. ; Maron, Martin S. ; Martinez, Matthew W. ; Salberg, Lisa ; Taylor, Matthew R. ; Wilcox, Janel E. / Establishment of Specialized Clinical Cardiovascular Genetics Programs : Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. In: Circulation. Genomic and precision medicine. 2019 ; Vol. 12, No. 6. pp. e000054.
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