Key result
Genetic testing for HCM carries important diagnostic, prognostic, and therapeutic implications for patient management.
Why the study?
New HCM susceptibility gene discoveries, expanding genotype-phenotype data, and commercially available genetic tests necessitate understanding the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.
Answers are grounded in this paper and cite their sources.
Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“For patients with HCM caused by MYBPC3 mutation, the most common genetic subtype of HCM, treatment options have been quite limited. What makes TN-201 so exciting is that it's the first therapy developed to target the genetic cause of the disease. Potentially, we can replace the faulty gene, restore patients' heart muscle function and avoid septal reduction surgery with just one infusion.”
“These are early but very promising results. HCM has always been the prototypical genetic heart disease, and to now see it treated at the molecular level is extraordinary. We're entering an era where genomics can both identify those at risk and be harnessed to change the course of disease itself.”
Supports genetic testing integration in HCM; hypothesis-generating pending prospective validation.
Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting approximately 1 in 500 individuals, HCM is the most common cause of sudden death in young athletes. In recent years, genomic medicine has been moving from the bench to the bedside throughout all medical disciplines including cardiology. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. The continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM make it essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.
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Bos et al. (2009) conducted a review in Hypertrophic Cardiomyopathy. Genetic testing was evaluated. Genetic testing for hypertrophic cardiomyopathy has important diagnostic, prognostic, and therapeutic implications for clinical practice and patient management.
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