Some patients come to Johns Hopkins’ Center for Inherited Heart Disease after experiencing puzzling and frightening episodes, such as fainting from an abnormal cardiac rhythm or being resuscitated after a sudden cardiac arrest. Others come after a family member dies unexpectedly from a previously unknown cardiac condition. Either way, says Gordon Tomaselli, chief of Johns Hopkins’ Division of Cardiology and co-director of the Heart and Vascular Institute, they come for answers and to set up a long-term plan to help themselves and anyone in their family who might also be affected.
The center, Tomaselli explains, follows Johns Hopkins’ long history of research and treatment for heritable conditions, starting with Johns Hopkins geneticist Victor McKusick’s groundbreaking work in the late 1950s. Here, a multidisciplinary team of specialists cares for patients of all ages, streamlining care for members of the same family affected by the same conditions, including hypertrophic, restrictive, arrhythmic and dilated cardiomyopathies; rhythm disorders, such as Long QT and Brugada syndromes; familial cardiac amyloid; and connective tissue disorders that cause heart or heart valve malformations, such as Marfan and Loeys-Dietz syndromes.
Many of these conditions predispose patients to sudden cardiac death, making it particularly crucial for patients to be cared for by a team of experts in these diseases. “These are obviously profoundly important problems, and ones that practitioners in the community can be a little leery of because the stakes are very high,” Tomaselli says.
At a patient’s first visit, he explains, physicians and other providers at the center carefully examine medical records and take a detailed family history to determine whether the patient’s heart problems are heritable or acquired. They also perform a battery of tests that can include electrocardiogram, stress testing, cardiac CT, cardiac MRI or heart biopsy.
For some patients and family members, genetic testing is also an important step to consider. With its own group of genetic counselors and a strong relationship with Johns Hopkins’ McKusick-Nathans Institute of Genetic Medicine, the center helps these patients and their families to decide whether to pursue genetic testing to identify the likelihood of their developing cardiac disease.
However, although genetic testing can be extraordinarily helpful in some circumstances, results aren’t always definitive because researchers haven’t yet identified the thousands of possible variants associated with genetic heart diseases, says Tomaselli.
“Our genetic counselors often explain that if we do genetic testing, it doesn’t always mean that we identify the problem. It may, in fact, cloud the picture,” he adds.
Even when genetic testing does not yield definitive findings, doctors at the center can advise patients on treatment options. For some patients, treatment may be as conservative as lifestyle changes or medications. For others, more aggressive interventional measures may be needed, such as implanted defibrillators or pacemakers, surgery to replace blood vessels, select denervation of the heart or heart transplantation.
“The fact that someone carries a genetic variant that causes heart disease isn’t a death sentence,” says Tomaselli. “We help patients manage their disease in ways that can give them a normal life expectancy and quality of life.”