Family-Centered Care: The “Heart” of Addressing Genetic Heart Disease

Abstract

Family-Centered Care: The “Heart” of Addressing Genetic Heart Disease Reading his recent cholesterol test results, the healthy 31-year-old gentleman worries about his own risk of heart disease, recalling memories of relatives with heart attacks, stents, and bypass surgeries. He calls his closest cousin, “How old were you when your dad died of that heart attack?” He reflects on his toddler, who just learned to walk recently, motivated to keep himself healthy for her. “Um, I don’t know exactly, but I was maybe 8 or 9 years when it happened,” the cousin adds. He received a message from his family physician, detailing his LDL cholesterol being “230”—normally, it should be below 100. A shocking number, though his doctor adds, “It’s probably genetic.” These anecdotes are common in our cardiovascular genetics work, with countless people discussing themes reiterated by their doctors and relatives. “It runs in our family,” “It’s likely genetic,” and well-intentioned quips to lessen self-blame: “Genetics are unfair, man.” As the Family Heart Foundation has discussed, “Runs in the family” is an unacceptable final diagnosis; for most people it is only the start. And this start requires a perceptual shift—one that does not see individuals as seemingly uncommon “n-of-1” cases to be simply treated—but one that holistically views them as microcosms of a larger family picture, one in which we have a duty to address risk in multiple, potentially numerous, people. Addressing this requires both a clinical perspective—diagnosing and treating individuals—and a public health perspective. The public health perspective addresses collections of people—like families—and seeks opportunities for disease-prevention and risk-reduction in those at risk of heart disease. But this takes coordinated effort and a firm conviction that centers care for both the individual and their family. As a genetic counselor and epidemiologist in the Cardiovascular Genetics program at Indiana University Health, I am fortunate to work with teams who share this conviction in our clinical work, research, and community outreach. After all, genetic heart diseases are agnostic to one’s age, geographic location, or social situation. Whether it is long QT syndrome, hypertrophic cardiomyopathy, familial aortic aneurysms/dissections, or familial hypercholesterolemia—like our 31-year-old gentleman might have—these familial disorders often affect families across the lifespan. This “lifespan perspective” means that we must develop care models that span pediatric and adult medicine, including different medical specialists, and even cardiology subspecialists, each of whom may have varying focus on the family. We also develop relationships with entire families, sometimes over the long-term, and provide outreach for identifying and addressing genetic risks of heart disease. Our cardiovascular genetic counselors serve as individual and family resources, serving as bridges to connect affected or at-risk people with optimal care by experts. From newborns to adolescents to young and older adults alike, managing genetic heart disease requires teams to coordinate their efforts. We are fortunate to have the ability to care for children and adults across the spectrum, requiring multidisciplinary, coordinated efforts between our genetic counselors, family medicine, and pediatric and adult cardiology colleagues at our center. Our 31-year-old was later evaluated in our Advanced Lipid Clinic by our team, including lipidologist Dr. Julie Clary, who diagnosed him with dual diagnoses of elevated lipoprotein(a), or Lp(a), and familial hypercholesterolemia. Thankfully, his advanced therapies have been successful and will reduce his heart disease risk, keeping him healthy for many years to come. But there is more work to be done; there are several at-risk relatives who would benefit from risk assessment, access to diagnostic testing, and care. With encouragement and family-centered focus, we discovered later that his daughter’s LDL cholesterol was very high, even at age 2—after completing cholesterol testing beginning at this age and as recommended by guidelines from the American Academy of Pediatrics and National Lipid Association. “What do we do from here, what does this mean for her?” he asks. Thankfully, we have colleagues in the Riley Preventive Cardiology Clinic who focus on managing and treating genetic forms of high cholesterol in children. Studies confirm that children diagnosed with familial hypercholesterolemia and optimally treated by adolescence can expect to have normal lives with greatly reduced risk of heart disease. “How can I get this information to my family? This is so important.” So, we worked on contacting relatives, routing them for evaluation and care—and we discovered several other relatives diagnosed with high cholesterol whose dietary interventions were unsuccessful. Our work is ongoing, and thankfully, we have the multidisciplinary care models and teams to make family-based care across the lifespan—and disease prevention—a reality.