Abstract
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.
Highlights
More than two decades have elapsed since the discovery that sarcomere gene defects cause familial hypertrophic cardiomyopathy (HCM).[1]
Following decade (2000-2009) resembles the expeditions of the conquistadores, when newly discovered lands were systematically exploited for riches (Figure 1). Evidence accumulated during this time strongly in supports a clinical role for molecular diagnosis in shaping individualized management for HCM patients.[1,7,8]
The identification of affected family members has been classically invoked by critics as for molecular diagnosis in tailoring manage- oped slowly, and remains unstandardized, with the main, if, true benefit of genetic ment for HCM patients
Summary
More than two decades have elapsed since the discovery that sarcomere gene defects cause familial hypertrophic cardiomyopathy (HCM).[1]. -c in developing countries, and still accounts for understandable (but not always n justifiable) resistance on the part of the physio cians Such resistance is in contrast N with considerable evidence supporting a role teins, moving along two main directions: the first focuses on genes coding for Z-disc proteins, which are essential for the structural organization of the cardiac sarcomere and the cardiomyocyte's stretch sensor. 2011 Licensee PAGEPress, Italy Cardiogenetics 2011; 1:e3 doi:10.4081/cardiogenetics.2011.e3 following decade (2000-2009) resembles the expeditions of the conquistadores, when newly discovered lands were systematically exploited for riches (Figure 1) Evidence accumulated during this time strongly in supports a clinical role for molecular diagnosis in shaping individualized management for HCM patients.[1,7,8] In an attempt to entice the sceptical, several sound, practical reasons in favour of systematic genetic testing are discussed below
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