Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Girolami, Francesca; Gozzini, Alessia; Ballerini, Adelaide; Tomberli, Alessia; Baldini, Katia; Marchi, Alberto; Zampieri, Mattia; Porcedda, Giulio; Calabri, G; Bennati, Elena; Spaziani, Gaia; Crotti, Lia; Cecchi, Francesca; Favilli, Silvia; Olivotto, Iacopo

doi:10.3390/jcm12072489

Cited by 6 publications

(4 citation statements)

References 45 publications

(68 reference statements)

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“…Genetic counseling would allow a better approach and communication to patients about risks, pre-and post-test genetic counseling, investigation of syndromic forms and other heritage-related issues. 57,58 This would facilitate the application of genetics in cardiology, similarly to what observed with cancer genetic counseling in oncology in Brazil.…”

Section: Review Articlementioning

confidence: 84%

Genetics in Cardiomyopathies – Genetic Tests Decoded for the Clinical Cardiologist

Lamounier,

Ávila,

Barriales-Villa

2023

ABC: Heart Failure &Amp; Cardiomyopathy

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The era of personalized medicine emphasizes the provision of health care guided by the cardiomyopathy phenotypes described, their interpretation based on genotype, and genetic counseling. The identification of high-risk cardiomyopathy subtypes and the diagnosis of rare etiologies with potential therapies cannot be neglected. Genetic sequencing of these patients, in addition to advances in cardiac imaging techniques, has indicated a new perspective for these concepts, and consequently possible new classifications of cardiomyopathies and new clinical practices. The interaction between multidisciplinary teams and cardiology genetic experts is fundamental for a more appropriate management of gene variants, especially variants of uncertain significance that may be relevant in the expression of cardiomyopathies. This article helps cardiologists in the ordering of genetic tests and their indications, provides information about pathogenicity of variants and emphasizes family screening, challenges that may be overcome in daily practice.

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Section: Review Articlementioning

confidence: 84%

Genetics in Cardiomyopathies – Genetic Tests Decoded for the Clinical Cardiologist

Lamounier,

Ávila,

Barriales-Villa

2023

ABC: Heart Failure &Amp; Cardiomyopathy

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“…Defining genetics may also help in guiding reproductive decisions, providing prognostic information, and guiding family screening and management [ 5 , 10 , 25 ]. A paramount step before and after genetic testing is genetic counselling, which involves trained health professionals such as genetic counsellors, genetic nurses, and/or medical geneticists with appropriate expertise [ 26 ]. Genetic counselling includes obtaining a detailed three-generation family history and depicting it on a pedigree, helping patients and their families to better understand and adapt to the medical and psychosocial consequences of their disease, providing clear explanations of genetic test findings, and discussing the anticipated results, goals, benefits, and limitations of the test.…”

Section: Genetic Testing For Hcmmentioning

confidence: 99%

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

Abbas,

Baba Ali,

Farina

et al. 2024

Biomedicines

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Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caused by pathogenic variants in the core sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1). Genetic testing using targeted disease-specific panels that utilize next-generation sequencing (NGS) and include sarcomeric genes with the strongest evidence of association and syndrome-associated genes is highly recommended for every HCM patient to confirm the diagnosis, identify the molecular etiology, and guide screening and management. The yield of genetic testing for a disease-causing variant is 30% in sporadic cases and up to 60% in familial cases and in younger patients with typical asymmetrical septal hypertrophy. Genetic testing remains challenging in the interpretation of results and classification of variants. Therefore, in 2015 the American College of Medical Genetics and Genomics (ACMG) established guidelines to classify and interpret the variants with an emphasis on the necessity of periodic reassessment of variant classification as genetic knowledge rapidly expands. The current guidelines recommend focused cascade genetic testing regardless of age in phenotype-negative first-degree relatives if a variant with decisive evidence of pathogenicity has been identified in the proband. Genetic test results in family members guide longitudinal clinical surveillance. At present, there is emerging evidence for genetic test application in risk stratification and management but its implementation into clinical practice needs further study. Promising fields such as gene therapy and implementation of artificial intelligence in the diagnosis of HCM are emerging and paving the way for more effective screening and management, but many challenges and obstacles need to be overcome before establishing the practical implications of these new methods.

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“…Genetic testing should always be prescribed after comprehensive genetic counselling, which aims to educate patients and their families about the benefits and constraints of genetic testing, the genetic aspects related to the disease, and the potential for passing on the condition to their relatives [ 1 ]. In their comprehensive review, Girolami et al address and deliberate on the most commonly posed questions by HCM patients, drawing on their extensive 20-year experience in genetic counselling [ 12 ].…”

Section: Molecular Basis and Genetic Testingmentioning

confidence: 99%

Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives

Monda,

Limongelli,

Pelliccia

2023

JCM

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Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Cited by 6 publications

References 45 publications

Genetics in Cardiomyopathies – Genetic Tests Decoded for the Clinical Cardiologist

Genetics in Cardiomyopathies – Genetic Tests Decoded for the Clinical Cardiologist

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives

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