ArticleJournal of genetic counseling2013
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
Article in Journal of genetic counseling, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication.Patient education and counseling · 2022Pooled it
- Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Effectiveness of theCirculation · 2023Trial
- Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium.Circulation. Genomic and precision medicine · 2025Article
- Family genetic risk communication and reverse cascade testing in the BabySeq project.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Performance of recommended management among pediatric patients identified through genomic screening.Translational behavioral medicine · 2025Observational
- Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk.Frontiers in cardiovascular medicine · 2025Article
- Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review.Familial cancer · 2024Review
- Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Development and early-stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient-driven approach.Health expectations : an international journal of public participation in health care and health policy · 2023Article
- A genetic researcher's devil's dilemma: Warn relatives about their genetic risk or respect confidentiality agreements with research participants?BMC medical ethics · 2021Article
- Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2021Article
- Cascade health service use in family members following genetic testing in children: a scoping literature review.European journal of human genetics : EJHG · 2021Article
- Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.Journal of the American Heart Association · 2021Article
- How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.Journal of genetic counseling · 2020Article
- Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions.Circulation. Genomic and precision medicine · 2020Article
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Family Relationships Associated With Communication and Testing for Inherited Cardiac Conditions.Western journal of nursing research · 2019Article
- The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p < 0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy.
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