Genetic testing for hypertrophic cardiomyopathy: ongoing voyage from exploration to clinical exploitation

  • Iacopo Olivotto | Department of Cardiology, Referral Center for Myocardial Diseases, Careggi University Hospital, Florence, Italy.
  • Heba Sh. Kassem Department of Pathology, Clinical Genomics Centre, Faculty of Medicine Alexandria University, and Magdi Yacoub Heart Foundation Serving, Egypt.
  • Francesca Girolami Genetic Diagnostics, Careggi University Hospital, Florence, Italy.


More than two decades have elapsed since the discovery that sarcomere gene defects cause familial hypertrophic cardiomyopathy (HCM). Since then, genetic testing in HCM has developed and expanded, and is now widely available as a potential clinical service in the Western countries. In the meantime, however, the cross-talk between geneticists and clinicians has developed slowly, and still remains unstandardized, with modalities of interaction and degree of mutual comprehension that vary wildly in various settings. In addition, clinicians often question the clinical utility of genetic testing in HCM patients and their families. The apparent lack of practical benefit, in the face of considerable costs, has long hindered large-scale diffusion of genetic testing, particularly in developing countries, and still accounts for understandable (but not always justifiable) resistance on the part of the physicians. However, such resistance is in contrast with considerable evidence supporting a role for molecular diagnosis in tailoring management for HCM patients. We here review several sound clinical reasons in favour of systematic genetic testing in HCM, ranging from identification of complex genotypes, heralding severe disease expression and outcome, to the added benefit of multidisciplinary genetic teamwork, enhancing awareness towards inheritable diseases in the cardiology community. We hope to show that to underestimate the clinical potential of genetic testing in HCM, and to defer its implementation until more advanced knowledge becomes available, is to lose an important opportunity for present improvement in care.



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hypertrophic cardiomyopathy, genetic testing, phenotype, outcome.
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How to Cite
Olivotto, I., Kassem, H., & Girolami, F. (2011). Genetic testing for hypertrophic cardiomyopathy: ongoing voyage from exploration to clinical exploitation. Cardiogenetics, 1(1), e3.