Journal article
Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association
Circulation. Genomic and precision medicine, Vol.12(6), pp.e000054-305
06/01/2019
DOI: 10.1161/HCG.0000000000000054
PMID: 31117808
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.
Details
- Title: Subtitle
- Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association
- Creators
- Ferhaan Ahmad - Univ Iowa, Carver Coll Med, Iowa City, IA 52242 USAElizabeth M. McNally - Institute of CardiologyMichael J. Ackerman - Mayo Clin, Rochester, MN USALinda C. Baty - Univ Michigan, Ann Arbor, MI 48109 USASharlene M. Day - Univ Michigan, Ann Arbor, MI 48109 USAIftikhar J. Kullo - Mayo Clin, Rochester, MN USAPeace C. Madueme - Nemours Childrens Hosp, Cardiac Ctr, Orlando, FL USAMartin S. Maron - Tufts Med Ctr, Boston, MA 02111 USAMatthew W. Martinez - Lehigh Valley Hlth Network, Allentown, PA USALisa Salberg - Hypertroph Cardiomyopathy Assoc, Denville, NJ USAMatthew R. Taylor - Univ Colorado, Hlth Sci Ctr, Cardiovasc Inst, Boulder, CO 80309 USAJanel E. Wilcox - Institute of CardiologyAmerican Heart Association Council on Genomic and Precision MedicineCouncil on Arteriosclerosis, Thrombosis and Vascular BiologyCouncil on Basic Cardiovascular SciencesCouncil on Cardiovascular and Stroke NursingCouncil on Clinical CardiologyStroke Council
- Resource Type
- Journal article
- Publication Details
- Circulation. Genomic and precision medicine, Vol.12(6), pp.e000054-305
- Publisher
- Lippincott Williams & Wilkins
- DOI
- 10.1161/HCG.0000000000000054
- PMID
- 31117808
- ISSN
- 2574-8300
- eISSN
- 2574-8300
- Number of pages
- 20
- Language
- English
- Date published
- 06/01/2019
- Academic Unit
- Radiology; Molecular Physiology and Biophysics; Cardiovascular Medicine; Fraternal Order of Eagles Diabetes Research Center; Internal Medicine
- Record Identifier
- 9984297500102771
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