Genetic testing in cardiomyopathies

Aleksova, Natasha; Rutberg, Julie; Green, Martin A.; Haddad, Haissam

doi:10.1097/hco.0000000000000362

Cited by 6 publications

(3 citation statements)

References 35 publications

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“…35,36 When indicating genetic tests, it is important for the patient and the family to receive adequate counseling carried out by a trained professional, who will explain the possible results that can be found and the impact they could have on the lives of patients and family members. 33,34,40 (Figure 2)…”

Section: Clinical-diagnostic Reasoning In Pediatric Cardiomyopathiesmentioning

confidence: 99%

Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature

Torbey,

Souza,

Azeka

et al. 2023

ABC: Heart Failure &Amp; Cardiomyopathy

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Section: Clinical-diagnostic Reasoning In Pediatric Cardiomyopathiesmentioning

confidence: 99%

Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature

Torbey,

Souza,

Azeka

et al. 2023

ABC: Heart Failure &Amp; Cardiomyopathy

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“…identification of early cardiac disease to guide medical management, including restrictions in physical activity and use of medications. 4,6,7 While there are benefits of CGT, the psychological impact of genetic results on families is understudied. This is especially true for adolescents, who are in a phase of life contending with issues of identity and autonomy.…”

mentioning

confidence: 99%

“…3–5 Identifying asymptomatic children at risk for cardiomyopathy facilitates appropriate surveillance and identification of early cardiac disease to guide medical management, including restrictions in physical activity and use of medications. 4,6,7…”

mentioning

confidence: 99%

Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents

Ahimaz

Sabatello

Qian³

et al. 2021

Circ: Genomic and Precision Medicine

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Background: Genetic testing is indicated for children with a personal or family history of hereditary cardiomyopathy to determine appropriate management and inform risk stratification for family members. The implications of a positive genetic result for children can potentially impact emotional well-being. Given the nuances of cardiomyopathy genetic testing for minors, this study aimed to understand how parents involve their children in the testing process and investigate the impact of genetic results on family dynamics. Methods: A survey was distributed to participants recruited from the Children’s Cardiomyopathy Foundation and 7 North American sites in the Pediatric Cardiomyopathy Registry. The survey explored adolescent and parent participants’ emotions upon receiving their/their child’s genetic results, parent-child result communication and its impact on family functionality, using the McMaster Family Assessment Device. Results: One hundred sixty-two parents of minors and 48 adolescents who were offered genetic testing for a personal or family history of cardiomyopathy completed the survey. Parents whose child had cardiomyopathy were more likely to disclose positive diagnostic genetic results to their child ( P =0.014). Parents with unaffected children and positive predictive testing results were more likely to experience negative emotions about the result ( P ≤0.001) but also had better family functioning scores than those with negative predictive results ( P =0.019). Most adolescents preferred results communicated directly to the child, but parents were divided about whether their child’s result should first be released to them or their child. Conclusions: These findings have important considerations for how providers structure genetic services for adolescents and facilitate discussion between parents and their children about results.

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Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases

Nannenberg

Arens

2020

Clinical Cardiogenetics

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Genetic testing in cardiomyopathies

Cited by 6 publications

References 35 publications

Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature

Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature

Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents

Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases

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