The Daniel children share more than just a familial bond and childhood memories. They share a genetic mutation that puts them at risk of developing a life-threatening heart condition. When their dad died suddenly at age 68, it was a wake-up call for the whole family.
Monica, one of four siblings, was referred to the Stanford Center for Inherited Cardiovascular Disease after her older sister Kristina was diagnosed with hypertrophic cardiomyopathy. Kristina’s diagnosis set off a cascade of events meant to protect her, her siblings and their families.
“I always thought something was off, but no one could really tell me what until coming to Stanford,” said Monica, who had a history of intermittent heart irregularities such as a rapid heart rate, chest pain and an irregular heartbeat. At her first appointment at the Stanford Center for Inherited Cardiovascular Disease, Monica underwent a series of tests to determine how her heart worked at both rest and exercise. She met with the team—Cardiologist Euan Ashley, MD; Clinical Nurse Specialist Heidi Salisbury, CNS; and Genetic Counselor Mitchell Pariani, MS, CGC. A follow-up MRI confirmed Dr. Ashley’s hunch. Monica’s heart showed minor symptoms of hypertrophic cardiomyopathy. “This is a disease where a genetic change in the gene that codes for the heart muscle causes the heart to become thicker and stiffer,” said Dr. Ashley. Hypertrophic cardiomyopathy can be associated with irregular heart rhythms, exercise intolerance, shortness of breath, chest pain and sudden death. Because of Monica’s young age and active lifestyle, Dr. Ashley recommended she have a small defibrillator implanted under her skin to monitor her every heartbeat.
“For patients who live at risk of having those bad rhythms, it can be very reassuring to know that they essentially have a little mini hospital under their skin monitoring their heart, every beat,” he said. “If they were to be in a particularly bad rhythm, it can even deliver therapy and bring their heart back to normal rhythm.”
“The Stanford team provided a really good picture of what various options could look like,” said Monica, who chose to have a defibrillator implanted in her chest this past spring.
A team approach
The Center combines the expertise of physicians, clinical nurse specialists and genetic counselors, all of whom have training in inherited cardiovascular conditions. Together they care for patients through their lifespan and across generations. Because these conditions are inherited, care extends to the patient’s whole family.
“You’re here for your own care. But we’re also thinking about your children, and your brothers, and your sisters, and your cousins, and your parents,” said Colleen Caleshu, MS, one of five genetic counselors in the Center. It’s important for family members who have a heart condition to get evaluated, even if they are symptom free. “Families with inherited heart conditions can live very well with their heart conditions,” said Caleshu. “Every single inherited heart condition that we know of to date has a treatment, and that treatment can absolutely be life saving.”
For Monica, understanding her condition meant choosing to have a defibrillator implanted. That knowledge also informed her family planning. “I’m the only one of my siblings who doesn’t have kids yet, so I wanted to understand what family planning would look like with this disease, and with this device,” she said.“I can stop this disease dead in its track, and that’s provided a lot of comfort.” Monica recalls the first conversation she had with Salisbury, sharing her medical history and the loss of her dad. Salisbury told her, “You know the best way to honor your father is going to be to make sure that his kids live a super long and healthy life, and we’re here to help you do that.”
“The whole team at Stanford has really gone out of their way to make sure that we were comfortable with the diagnosis, comfortable with their recommendations, comfortable with how this would affect our lives,” said Monica. “I feel immense gratitude to have the knowledge of the condition that I have, and to have the team in place who will be able to provide the best care for the rest of my life.”