Geneticist Uncovers Family Heart Condition Linked to Ashkenazi Jewish Ancestry

Geneticist Susan Weiss Liebman, 78, has uncovered a hereditary heart condition within her own family, tracing its roots back to a "founder mutation" in the FLNC gene. Initially believing her uncle died in a childhood accident, Liebman discovered his death certificate listed congestive heart failure, suggesting her grandparents concealed the hereditary nature of the illness due to past stigma. This discovery was prompted by several premature deaths in her family, including her niece Karen Rothman Fried, who died at 36 from dilated cardiomyopathy while pregnant, and her father and grandfather who also died suddenly from heart issues. Liebman's sister was diagnosed with cardiomyopathy, initially thought to be viral.

The mutation in the FLNC gene, crucial for heart muscle function, was identified through genetic testing. Liebman found that while her sister carried the mutation, she and her nephew did not. This specific mutation, Liebman estimates, affects approximately one in 800 Ashkenazi Jews. She explained that some FLNC gene mutations are dominant, meaning inheriting just one altered copy can significantly increase the risk of heart disease.

Liebman is now advocating for increased genetic screening, particularly for families with a history of cardiomyopathy or sudden cardiac death. She emphasizes that identifying a genetic predisposition does not preclude intervention, highlighting the potential benefits of cardiological monitoring, treatment, and defibrillator implantation, though medical decisions must be individualized. Liebman details her investigation in her 2024 book, "The Dressmaker's Mirror: Sudden Death, Genetics and a Jewish Family's Secret," aiming to raise awareness about the importance of family medical history, especially within the Ashkenazi Jewish community.