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After receiving a heart transplant at BWH in March, Shirley Plaster Coe last week made a return visit to BWH. Plaster Coe was joined by her husband, brother, niece and nephew, all of whom are heart transplant recipients, except her husband.
The Plaster family is one of more than 100 families treated at BWH for hypertrophic cardiomyopathy (HCM), the most common genetic cardiovascular disease. HCM, which affects approximately one in every 1,000 people, is a condition in which heart muscle thickens, often affecting the normal function and rhythm of the heart. In families like the Plasters, HCM is passed from one generation to the next; more than 20 members of the Plaster family suffer from the disease.
“Within each family, we are able to locate the exact gene and mutation responsible for HCM,” Christine Seidman,MD, director of BWH’s Cardiovascular Genetics Center, said. “There is a 50-50 chance the gene will be passed on to the next generation.”
At 67, Plaster Coe is the oldest living member of her family. Her brother Keith Plaster, 60, received a heart transplant in 1995 at BWH after exhibiting worsening dizziness, shortness of breath and chest pains common to this disease. Keith Plaster’s daughter, Kimberly, 32, underwent a heart transplant in October at BWH, and his son Hans, 36,had a transplant in 2001 at Stanford University Medical Center. They were among the fortunate family members, as Plaster’s and Plaster Coe’s mother and three brothers died suddenly from cardiac arrest caused by HCM.
The Plasters’ genetic makeup has been the focus of studies at BWH’s Cardiovascular Genetics Center for more than 15 years. By studying the DNA of families like the Plasters, researchers hope to grasp a better understanding of genetically inherited cardiovascular diseases such as HCM. “This is what personalized medicine is about,” Seidman said. “We can identify people who have a genetic mutation and need preventative intervention.”
The center provides comprehensive treatment, genetic testing and counseling, diagnostic consultations and surgery options for patients and their families. The Cardiovascular Genetics Center is in the early stages of its first clinical trial, in which researchers hope to prevent the development of HCM in patients with gene mutations but no obvious pathological changes associated with the disease.
The research and clinical activities focused around HCM at the Cardiovascular Genetics Center holds promise for the Plasters and other families. By identifying the causal gene mutations and clarifying familial inheritance patterns, individual family members can understand their risk of developing and passing along the disease. Researchers and clinicians hope that some day people like Kimberly Plaster, who is hesitant to have her own children, will be able to enjoy a life without familial cardiac disease.
Carolyn Ho, MD, medical director of the Cardiovascular Genetics Center, said,” The generosity of families like the Plasters makes what we do possible. It’s this type of extraordinary relationship that allows us to think about how to translate important discoveries at the laboratory bench to improve how we take care of patients.”