Show notes
"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. For example, in 2011, one study found that more than half of previously unexplained cardiac deaths in young people resulted from genetically-linked arrhythmia, as determined through postmortem genetic testing. Thus, our ability to advise patients and their families, and in some cases, take preemptive measures such as defibrillator implantation, is limited."
Marc Semigran is a cardiologist and chief medical officer of a biotechnology company developing cardiac gene therapy.
He shares his story and discusses his KevinMD article, "It's time to start approaching heart disease like breast cancer."
This episode is sponsored by the Nuance Dragon Ambient eXperience.
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