Heart Attack Survivor Learns of Genomic Predisposition to Heart Disease

My name is Sarah Casalan, and my journey has been a rollercoaster of unexpected twists and life-changing revelations. I am a mother of two wonderful boys, and I never imagined that my life would be profoundly impacted by something as critical as heart disease. I am sharing my story to reveal my enlightening experience with GenomicMD and their new genetic screening, which may have helped me prevent this near tragedy if I had known about the opportunity to learn this information earlier. Learning your genetic information proactively is a testament to the importance of awareness and proactive health management.

This story started with subtle symptoms of nausea, which I thought was from indigestion. I initially dismissed the symptoms and sat down, expecting I would get sick. When I stood up, I felt chest pain and knew something was wrong, but I still was not overly alarmed. Thankfully, my mother was visiting. I made it to her room to tell her something was wrong, and I was unconscious five minutes later. Little did I know, the symptoms I was having were the early warning signs of a massive heart attack. I had what is known as a widowmaker’s heart attack with 100% artery blockage. This was a shock to learn, given that my physical a few months earlier did not reveal any risk factors for heart disease.

I was rushed to Endeavor Health, where the incredible Dr. Arman Qamar and his team saved my life. Their expertise and swift action were miraculous, and I am forever grateful for their care. Dr. Nitasha Sarswat, my primary heart failure cardiologist, was instrumental in coordinating care across multiple facilities. During my recovery, I had traditional genetic testing that was negative for mutations, which are rare in the general population. A few months ago, one of my cardiologists, Dr. David Davidson, recommended that I get a new type of genetic screening that Endeavor was now offering its patients, the GenomicMD Lifetime Genomics Risk Assessment (LGRA). The LGRA evaluates nearly two million genetic variants to predict the risk of coronary artery disease and other cardiovascular conditions. The results revealed a startling truth: I was at increased risk, specifically 70% greater than the average individual, for coronary artery disease. Had I known this information earlier, I might have been able to take proactive steps to monitor my heart health more closely, take control of more of my lifestyle factors, and potentially have been able to avoid the heart attack altogether.      

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I can’t help but think about all the moments I could have missed with my family: soccer games, school plays, family picnics, and holiday celebrations. These precious moments are what life is all about. My family is my world, and the thought of not being there for them and not being able to experience those moments is unbearable.

I am advocating the importance of understanding your genetic predispositions and risk factors. Unlike many genes in which mutations can impact your risk of developing certain types of cancer, like BRCA1/2, the genetics of heart disease is less well understood, and genetic testing for it is not as widely known or offered. The GenomicMD LGRA uses a different type of genetic screening called a polygenic risk score (PRS). This is a risk assessment method supported by the American Heart Association. This especially applies to women like me who were active and had no prior signs of heart disease. This screening can save lives by empowering individuals to understand their genomic risk for diseases.