#315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally
DNA Today: A Genetics Podcast
Deep Dive
What tragic event in Dr. Liebman's family led her to write 'The Dressmaker's Mirror' and advocate for genetic testing?
In 2008, Dr. Liebman's 36-year-old niece, who was six months pregnant, suddenly collapsed and died from undiagnosed dilated cardiomyopathy. This event, combined with her sister's earlier diagnosis of the same condition, motivated Dr. Liebman to write the book and advocate for genetic testing.
Why is family history crucial in identifying genetic heart conditions?
Family history is crucial because it can provide early warning signs and help identify genetic mutations that may cause heart conditions. In Dr. Liebman's case, her niece's sudden death and her sister's diagnosis of dilated cardiomyopathy suggested a genetic link, which led to further testing and identification of the FLNC mutation.
What significant discovery did Dr. McNally's team make regarding Dr. Liebman's family?
Dr. McNally's team identified a mutation in the FLNC gene, which was responsible for the dilated cardiomyopathy in Dr. Liebman's family. This mutation was not initially recognized as a cardiomyopathy gene but has since been confirmed and added to genetic testing panels.
Why is genetic testing for cardiomyopathy underutilized, and what are the barriers to increasing its use?
Genetic testing for cardiomyopathy is underutilized due to a lack of trained professionals, insufficient awareness among healthcare providers, and concerns about the cost and complexity of testing. Only 1% of cardiomyopathy cases are referred for genetic testing, despite mutations causing nearly 50% of cases.
What are the next steps after identifying a genetic mutation in a family member with cardiomyopathy?
After identifying a genetic mutation, the next steps include monitoring with a wearable heart monitor, conducting stress tests, and imaging to check for heart scarring. If necessary, patients may be recommended for a pacemaker or defibrillator to prevent sudden cardiac death.
What is the significance of the FLNC mutation in Ashkenazi Jews, and what are the implications for population screening?
The FLNC mutation is more common in Ashkenazi Jews, with one in 800 individuals carrying it. This suggests that population screening for this mutation in Ashkenazi Jews could be beneficial, as it can lead to early detection and preventive care. However, there are debates about the feasibility and necessity of widespread population screening.
What are the future prospects for gene therapy in treating cardiomyopathy?
Gene therapy for cardiomyopathy is an active area of research. Companies are developing treatments for genes like MYBPC3, LAMP2, and PKP2. The challenge is timing the delivery of the therapy to patients who are sick enough to benefit but not too far gone for rescue. Early-stage and preventive applications are also being explored.
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