Title |
Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
|
---|---|
Published in |
Journal of Cardiac Failure, March 2018
|
DOI | 10.1016/j.cardfail.2018.03.004 |
Pubmed ID | |
Authors |
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware |
Abstract |
This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), this guidance has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine. The genetic evaluation of cardiomyopathy is a rapidly emerging key clinical priority, as high throughput sequencing is now feasible for clinical testing, and conventional interventions can improve survival, reduce morbidity, and enhance quality of life. Moreover, specific interventions may be guided by genetic analysis. A systematic approach is recommended: always a comprehensive family history; an expert phenotypic evaluation of the proband and at-risk family members to confirm a diagnosis and guide genetic test selection and interpretation; referral to expert centers as needed; genetic testing, with pre- and post-test genetic counseling; and specific guidance as indicated for drug and device therapies. The evaluation of infants and children demands special expertise. The approach to manage secondary and incidental sequence findings as recommended by the ACMG is provided. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 13 | 27% |
Australia | 3 | 6% |
Spain | 2 | 4% |
Italy | 2 | 4% |
Argentina | 1 | 2% |
Venezuela, Bolivarian Republic of | 1 | 2% |
Colombia | 1 | 2% |
Malaysia | 1 | 2% |
Chile | 1 | 2% |
Other | 1 | 2% |
Unknown | 23 | 47% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 30 | 61% |
Scientists | 8 | 16% |
Science communicators (journalists, bloggers, editors) | 7 | 14% |
Practitioners (doctors, other healthcare professionals) | 4 | 8% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 299 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 36 | 12% |
Researcher | 26 | 9% |
Student > Ph. D. Student | 25 | 8% |
Student > Bachelor | 23 | 8% |
Student > Master | 22 | 7% |
Other | 58 | 19% |
Unknown | 109 | 36% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 106 | 35% |
Biochemistry, Genetics and Molecular Biology | 32 | 11% |
Nursing and Health Professions | 12 | 4% |
Agricultural and Biological Sciences | 8 | 3% |
Social Sciences | 5 | 2% |
Other | 18 | 6% |
Unknown | 118 | 39% |