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4bases’paper of The Month – November 2023 -Genetic testing and counseling in the management of cardiomyopathy

The European Society of Cardiology presented its new guidelines for the management of cardiomyopathies. They aim to assist healthcare professionals in the accurate diagnosis and effective management of patients suffering from cardiomyopathies, drawing from the most up-to-date evidence. Recognizing that an increasing number of patients have a known genetic basis for their condition, the guidelines also address the far-reaching implications of a diagnosis for affected families.

In families affected by cardiomyopathies, clinical management typically involves genetic testing of Mendelian genes. Genetic testing in individuals with cardiomyopathy, often referred to as confirmatory or diagnostic testing, serves the primary purpose of confirming the diagnosis. Additionally, it can provide insights into prognosis, aid in the selection of appropriate treatments, guide reproductive decisions, offer benefits to family members, and provide essential psychological support to patients struggling to understand their disease.

Cascade, predictive, or pre-symptomatic testing is conducted on clinically unaffected relatives when a genetic diagnosis has been confidently established in an affected family member. If these relatives carry Pathogenic or Likely Pathogenic (P/LP) variants, they should undergo clinical evaluation and receive ongoing surveillance. Conversely, if no such variants are identified, no further clinical follow-up is necessary. This approach is designed to prevent undue anxiety and stress in unaffected family members while effectively managing those at risk.

Segregation analysis is conducted to enhance the interpretation of a variant of uncertain significance in an affected individual. In such instances, it is crucial to clearly communicate to family members that this test does not serve a diagnostic purpose. Lastly, it’s important to note that opportunistic screening is not recommended due to the uncertain balance of benefits and potential risks.

In scenarios where a monogenic disease-causing variant cannot be identified, several possibilities arise. It could be due to an unidentified monogenic cause, the cardiomyopathy may not have a genetic basis, or it might result from the cumulative effects of multiple variants with individually smaller impacts. Indeed, genome-wide association studies have suggested that cardiomyopathies may encompass a spectrum of complexity, ranging from Mendelian patterns to highly polygenic forms. In this context, polygenic risk scores may hold future relevance for managing such cases.

Genetic counseling plays a pivotal role in the genetic diagnostic process. This counseling should be conducted both before and after the test. Pre-test discussions should encompass an in-depth review of family history, genetic education, an overview of the testing process and logistics, the expected return of results, and a thorough exploration of potential outcomes. Post-test, the focus shifts to result disclosure, the specific implications for clinical care and the family, and a comprehensive examination of the patient’s understanding.

We at 4Bases offer healthcare providers CARDIO pro, ​​a kit for the genetic characterization of familial cardiovascular diseases using Next Generation Sequencing technologies. Following the latest international recommendations and guidelines, the kit allows the analysis of more than 200 genes known to be related to hereditary cardiomyopathies, rare heart diseases and hereditary aneurysmal diseases.

Elena Arbelo, Alexandros Protonotarios, Juan R Gimeno, Eloisa Arbustini, Roberto Barriales-Villa, Cristina Basso, Connie R Bezzina, Elena Biagini, Nico A Blom, Rudolf A de Boer, Tim De Winter, Perry M Elliott, Marcus Flather, Pablo Garcia-Pavia, Kristina H Haugaa, Jodie Ingles, Ruxandra Oana Jurcut, Sabine Klaassen, Giuseppe Limongelli, Bart Loeys, Jens Mogensen, Iacopo Olivotto, Antonis Pantazis, Sanjay Sharma, J Peter Van Tintelen, James S Ware, Juan Pablo Kaski, ESC Scientific Document Group , 2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC), European Heart Journal, Volume 44, Issue 37, 1 October 2023, Pages 3503–3626, https://doi.org/10.1093/eurheartj/ehad194


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