Two sisters, Megan Koverman and Katie Gusching, received diagnoses of heritable pulmonary arterial hypertension, a rare genetic heart condition, after experiencing symptoms that were initially difficult to identify. The condition, which affects the blood vessels in the lungs and can lead to heart failure, was identified in Koverman in 2016 and in Gusching two years later.
Heritable pulmonary arterial hypertension occurs when genetic mutations cause small arteries in the lungs to narrow. According to the Mayo Clinic, this raises blood pressure and forces the heart to work harder, which can lead to the failure of the heart's right side. The medical database Orphanet reports that this heritable form accounts for less than 4% of pulmonary arterial hypertension cases, affecting fewer than one in 1 million people.
Koverman first experienced symptoms at age 18, including weight gain and shortness of breath, but did not receive a diagnosis until age 27, when tests showed she was in the early stages of heart failure. Her sister, Gusching, was diagnosed at age 32 after noticing similar symptoms, including difficulty breathing during household tasks and swelling in her legs. Both women are currently receiving treatment at the Cleveland Clinic under pulmonologists Dr. Kristen Highland and Dr. Adriano Tonelli.
Highland noted that while there is no cure for the condition, treatment options have expanded significantly. Both Koverman and Gusching are participating in clinical trials to help develop new care options. Koverman stated that new medication has allowed her to run 5Ks, while Gusching has returned to activities such as hiking.
The clinical trials involving these patients at the Cleveland Clinic serve as a precedent for how rare genetic diseases are researched and managed. For the medical community and future patients, these trials represent the primary mechanism for finding new treatments for a condition that currently has no cure. Because the disease is genetic, a single diagnosis in a family often necessitates screening for other relatives who may be at risk but asymptomatic. The knock-on effects include an increased burden on specialized cardiac and pulmonary centers that must provide long-term, intensive care for these patients.
What happens next involves the continued participation of Koverman and Gusching in clinical trials. While specific dates for the conclusion of these trials were not reported, the sisters remain under ongoing care at the Cleveland Clinic to manage their symptoms. They have also taken on roles as advocates, urging others with unresolved cardiac symptoms to consult their doctors about the possibility of pulmonary hypertension. Progress in their health will depend on their response to current medication and the outcomes of the research studies.