“They shocked her heart but that threw more blood clots,” Krysten said. “Her whole body shut down.”
HCM, a thickening of the myocardium (heart muscle), is a significant cause of unexpected cardiac arrest in any age group, and “adolescence is a high risk period for developing cardiomyopathy,” said Anjali Owens, MD, medical director of Penn’s Center for Inherited Cardiovascular Disease. The disease affects more than 1 in 300 people worldwide and is one of the most common causes of cardiac arrest among athletes.
The Center treats patients with a variety of inherited cardiac diseases, including not only inherited cardiomyopathies but also familial arrhythmia and aortic syndromes. The Penn Hypertrophic Cardiomyopathy clinic was recently recognized as a Center of Excellence by the Hypertrophic Cardiomyopathy Association, one of less than 30 in the country.
In high school, Krysten displayed symptoms of a heart problem. “I played soccer but was always the slowest kid. I couldn’t catch my breath. But no one connected it to my mom’s condition,” she said. She was finally diagnosed with hypertrophic cardiomyopathy at age 17.
“In most cases, there’s a 50-50 chance of passing the genetic change that leads to HCM from affected parent to a child,” Owens said. In Krysten’s case, she has the disease causing genetic change but her sister does not.
Krysten continued to feel “flutters in my chest or a heavy beating of my heart” through college. After she graduated, she finally decided to see a local cardiologist “just to be safe.” After a few years – in which her symptoms seemed to progress – her cardiologist suggested she see a specialist at Penn. But Krysten resisted.
“I didn’t feel so bad that I couldn’t live with it.” But she got worse, not better. She suffered several black-out episodes over the next year, which put her symptoms into “high gear.”
“I couldn’t walk up the stairs. I was dizzy, racing heart, palpitations... I felt like my heart would explode from the inside.”
Finally, after the frequency of blackout episodes increased, she agreed to get a pacemaker/defibrillator at her local hospital and made an appointment to see Owens. At the first visit, Owens said they’d try medications to control the symptoms but, if the symptoms persisted, the next step would be surgery.
“I thought that was years away.” Krysten said. At that visit, Krysten, who was 29 at the time, also expressed her desire to start a family. “Dr. Owens said it was probably not a good idea but referred me to Dr. [Eileen] Wang, MD,” an associate professor of Clinical Obstetrics and Gynecology in Penn’s Maternal Fetal Medicine program. Wang gave her the same advice: wait until your heart situation is taken care of.
Krysten’s symptoms continued despite the medications and, in August 2015, she underwent a septal myectomy at Mayo Clinic to reduce the thickening in her heart. At the time, there was no septal myectomy program. Now, “the Center has a fully trained surgeon – Dr. Pavan Atluri, MD – performing this procedure at Penn so patients can get all HCM related care at our center,” Owens said.
The surgery changed Krysten’s life: “I could tell the difference immediately. No more black-outs, no dizziness, no pounding.”
She returned to Owens’s care, who followed her closely. A year later, she returned to see Wang and this time got the thumbs up. Her heart could now handle the stress of pregnancy. Today, Krysten is doing very well. Her son, Cameron, who was born in August 2017 (and delivered by Wang), was tested at Children’s Hospital of Philadelphia (CHOP) and so far does not show any sign of the condition.
Owens stressed the importance of “knowing your family history and being proactive about your health. If one person has the condition, then the whole family needs to be evaluated.”
She said the Familial Cardiomyopathy Program within the Center – a partnership program between Penn Medicine and CHOP that is co-directed by Owens and CHOP’s Kimberly Lin, MD – ensures that the entire family receives the best care.
“We meet on a bimonthly basis to discuss updates in the field or the families we’re seeing, to make sure we’re up to speed on referrals and any testing,” Lin said. “It provides continuity of care for our patients.”
Krysten still sees Owens, who said her patient is doing “very well medically.”
“I’m their biggest fan,” Krysten said. “They changed the course of my life. They gave me my life back.”