Are my heart problems actually genetic?

#heartdisease and lack of genetic testing. In this conversation, Ana Morales discusses the critical signs of genetic heart disease, particularly focusing on early onset conditions and the importance of recognizing red flags such as elevated cholesterol and complications during/after pregnancy. She emphasizes that these health issues should not be ignored and highlights the need for awareness and proactive health management. ‪@AllAccessDNA‬

Key Takeaways:
-Having early onset heart disease of any kind is not normal.
-Early onset is defined as less than age 60.
-Severely elevated cholesterol, especially if it runs in families, is concerning.
-Onset of heart disease during or soon after pregnancy is a red flag.
-Thoracic aortic aneurysm at any age should not be ignored.
-Over 95% of people who have a genetic heart condition have not had genetic testing.
-Hereditary cardiac disease is underdiagnosed.
-Proactive health management can save lives.

Ana Morales is an Associate Professor at the Geisinger Department of Genomic Health, a board-certified genetic counselor, and a Translational Health Sciences Ph.D. candidate. Her dissertation, titled "Development of a Guideline-Based Innovation to Support the Genetic Evaluation of Cardiomyopathy and Arrhythmia: An Exploratory Mixed Methods Study," aims to address existing guideline gaps by developing an implementation plan for an innovation designed to support the genetic evaluation of cardiomyopathy and arrhythmia.
Ana's prior work includes evaluating genetic testing utilization, highlighting the underutilization of cardiomyopathy genetic testing. She has also contributed to key literature, including co-authoring the American College of Medical Genetics and Genomics/Heart Failure Society of America guideline on the genetic evaluation for cardiomyopathy and the National Lipid Association guideline on familial hypercholesterolemia (FH).

Currently, Ana serves as the Principal Investigator for the NIH-funded IMPACT-FH study, which investigates implementation science-based strategies to promote cascade genetic testing in primary care. Ana has held professional leadership roles, including membership in the ClinGen Cardiovascular Disease and Ancestry/Diversity Working Groups, as well as serving as the 2019 President of the American Board of Genetic Counseling. She currently chairs the Clinical and Laboratory Standards Institute's Standard 29 group, a position dedicated to fostering effective communication and collaboration with clinicians and test utilization management.

Outside of her professional work, Ana enjoys spending quality time with family and friends, exploring new foods, dancing, appreciating visual art, and diving into diverse non-fiction books.

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Here are more resources related to today’s topic:
Findageneticcounselor.org to search for a genetic counselor near you
DCM Foundation
Implications of Genetic Testing in Dilated Cardiomyopathy
Find a Cardiomyopathy Specialist
Genetic Cardiomyopathy Awareness Consortium
Global Heart Hub for non-US residents
Episode 8- Should I consider genetic testing for dilated cardiomyopathy? With Greg Ruf
Episode 9- How does family history shed light on sudden cardiac death? With Dr. Susan Liebman

Any inquiries on the podcast can be sent to [email protected]

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.