“Despite these high numbers, we cardiologists often look to genetic screening last in our diagnostic workup. But without genetic screening, we can’t always see the whole picture in our cardiomyopathy patients. Once we’ve excluded coronary disease as an etiology, available diagnostic tools such as echocardiography and magnetic resonance imaging provide great insight into the symptoms and consequences of these conditions but not the specific underlying causes. Epidemiology studies support this notion."
Marc Semigran is a cardiologist and chief medical officer of a biotechnology company developing cardiac gene therapy.
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