Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Q: What is the clinical evidence from this study?

Population: Heritable cardiovascular diseases in pediatric patients (cardiac channelopathies, cardiomyopathies, aortopathies, familial hypercholesterolemias, and congenital heart defects). Intervention: Clinical cardiovascular genetic testing (diagnostic and risk-predictive testing via cytogenetic and molecular genetic testing, accompanied by multidisciplinary pretest and posttest counseling).

Q: What does this research mean for the field?

Cardiovascular genetic testing in pediatric patients requires individualized timing, age-appropriate assent, and multidisciplinary pretest and posttest genetic counseling to balance diagnostic benefit against ethical and psychosocial complexities. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

Andrew P. Landstrom; Jeffrey J. Kim; Bruce D. Gelb; Benjamin M. Helm; Prince J. Kannankeril; Christopher Semsarian; Amy C. Sturm; Martin Tristani‐Firouzi; Stephanie M. Ware

doi:10.1161/hcg.0000000000000086

August 20, 2021Circulation Genomic and Precision MedicineOpen Access

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

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Why the study?

Despite existing guidelines for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges of testing in infants, children, and adolescents.

Key Points

Clinical genetic testing informs diagnosis and management of pediatric cardiac channelopathies and cardiomyopathies, guiding timely interventions across childhood.
Secondary findings in 59 actionable genes include aortopathies and hypercholesterolemias, requiring ongoing pediatric surveillance due to age-dependent penetrance.
Scientific statement synthesis of clinical guidelines evaluates molecular genetic testing and next-generation sequencing for diagnosing monogenic cardiac conditions.
Highlights family cascade testing and specialized pretest counseling to navigate incomplete penetrance while protecting child autonomy before adulthood.

Structured PICO

P

Population

Infants, children, and adolescents suspected of or at risk for heritable cardiovascular diseases, including channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and congenital heart defects.

I

Intervention

Clinical cardiovascular genetic testing (diagnostic and cascade risk-predictive testing using cytogenetic microarrays, targeted disease-specific gene panels, or exome/genome sequencing) integrated with multidisciplinary pretest and posttest genetic counseling.

This American Heart Association scientific statement establishes comprehensive pediatric-focused recommendations for the appropriate selection, timing, assent/consent processes, and multidisciplinary genetic counseling required for cardiovascular genetic testing in children.

Limitations

Absence of robust clinical evidence in pediatric cardiovascular genetics requiring reliance on existing guidelines and consensus statements
Literature review was limited to English-language publications and primarily to those published in or after 2010
Incomplete penetrance and variable expressivity of heritable cardiovascular diseases limit the ability of risk-predictive testing to determine if or how disease will manifest
Evolving nature of variant pathogenicity classification and variants of uncertain significance requires ongoing follow-up and re-evaluation
Absence of robust clinical evidence to inform practice, requiring synthesis from existing guidelines, consensus statements, and key studies
Literature search was limited to English-language human subject or clinically focused publications primarily from 2010 or later
Incomplete penetrance and variable expressivity across nearly all heritable cardiovascular diseases prevent positive risk-predictive tests from definitively predicting disease development or manifestation
Ongoing evolution of variant pathogenicity classifications and challenges in interpreting variants of uncertain significance and secondary findings

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Implication

Informs individualized pediatric cardiovascular genetic testing decisions; extends AHA guidance to children with assent and counseling standards.

Abstract

Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.

Discussion

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Cite This Study

Landstrom et al. (2021) studied Heritable cardiovascular diseases in pediatric patients (cardiac channelopathies, cardiomyopathies, aortopathies, familial hypercholesterolemias, and congenital heart defects). Clinical cardiovascular genetic testing (diagnostic and risk-predictive testing via cytogenetic and molecular genetic testing, accompanied by multidisciplinary pretest and posttest counseling) was evaluated. Cardiovascular genetic testing in children requires individualized timing, age-appropriate assent, and multidisciplinary pretest and posttest genetic counseling.

synapsesocial.com/papers/6a75a8e849a8cdd61fb1d5ab https://doi.org/10.1161/hcg.0000000000000086

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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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