How does family history shed light on sudden cardiac death?

In this conversation, Dr. Susan Weiss Liebman discusses her memoir, 'The Dressmaker's Mirror,' which intertwines her personal journey with a genetic search for a mutation linked to her niece's sudden death. She emphasizes the importance of genetic testing, the cultural heritage of her Jewish family, and the challenges faced in communicating genetic information to family members. We delve into the importance of genetic testing, particularly in relation to cardiomyopathy and other heart conditions. Dr. Liebman emphasizes the need for education among healthcare providers and the role of genetic counseling in improving patient outcomes.

Key Takeaways:

• Family dynamics can complicate the sharing of genetic information
• Family communication about health history is essential
• There is a significant gap in awareness of hereditary cardiac conditions among healthcare providers
• Regular follow-ups after genetic testing are needed as knowledge evolves
• DNA banking can be a valuable resource for future genetic testing

Dr. Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years. 

In the wake of her 36-year-old pregnant ​niece’s sudden collapse and death, ​Susan embarked on a frantic search for ​answers. The hunt culminated in the discovery ​of a previously unknown heart disease gene ​and an Ashkenazi Jewish mutation within it. ​Against this backdrop, Liebman's The ​Dressmaker's Mirror: Sudden death, genetics, ​and a Jewish family's secret, intertwines ​heartfelt stories of generations of love, loss, ​and resilience, with insights into genetics and ​the ongoing genetic revolution. By touching ​hearts and minds, the book offers a compelling ​call to action, guiding readers of all ethnicities ​how to use the frequently overlooked tool of ​genetic testing to safeguard their families’ ​health and save lives.

Find Dr. Liebman’s book HERE and learn more about the book by checking out the book trailer and visiting www.SusanWLiebman.com

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Here are more resources related to today’s topic, dilated cardiomyopathy.

• Check out Greg Ruf’s episode- Should I consider genetic testing for dilated cardiomyopathy?
• DCM Foundation
• Implications of Genetic Testing in Dilated Cardiomyopathy
• Find a Cardiomyopathy Specialist
• Genetic Cardiomyopathy Awareness Consortium
• Global Heart Hub for non-US residents

The American College of Medical Genetics and Genomics (ACMG) SF v3.2 list for reporting of secondary findnigs in clinical exome and genome sequencing:

• https://pmc.ncbi.nlm.nih.gov/articles/PMC10524344/

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