Tag: misdiagnosis

Delays Common in HCM Diagnosis

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As many as 60% of patients with hypertrophic cardiomyopathy don’t receive an appropriate diagnosis when they first come to medical attention.

In fact, HCM patients receive on average of 4 misdiagnoses before finally receiving an accurate HCM diagnosis and appropriate treatment.  A recent paper highlights the this issue which is largely due to a lack of knowledge of HCM in the medical community.  Even cardiologists often fail to accurately diagnose and treat HCM, emphasizing something that those of us with HCM already know – not all cardiologists are equal when it comes to recognizing and treating HCM.  Experts are key! 

Medical professional and patient education and awareness initiatives are critical to address these issues. Hopefully, over time we will start to see improvements to HCM diagnosis and treatment now that there are increasingly new professional and educational initiatives focused on and around HCM, such as the HCM Society.

Is Direct-to-Consumer Genetic Testing Helpful or Harmful to HCM Families?

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This recent article published in Nature discusses several real-life scenarios in which patients were mistakenly diagnosed with serious genetic cardiac conditions, including HCM, as a result of erroneous direct-to-consumer genetic testing.

These misdiagnoses directly resulted from misinterpretation of raw data by third party interpretation services that were working with raw data provided to them by direct-to-consumer genetic testing companies.

After medical testing, none of the patients discussed in the highlighted cases were ultimately found to have disease or be in need of medical intervention, though all underwent unnecessary medical testing and/or invasive procedures. Some even made radical lifestyle changes as a result of the erroneous genetic information.

This article demonstrates the unreliability of direct-to-consumer genetic testing, which has the potential to cause great upheaval to both patients and the medical system.

As always, patients seeking genetic testing should do their homework. Genetic testing for heart conditions is best when done by the experts – cardiac genetic counselors!