There’s an Arrhythmia in Your Family—Do Your Children Have It, Too?

When Christina Jagrosse of Hamden, Conn., was five months pregnant with her second child in 2020, she fainted in the check-out line at the grocery store. She was rushed to Yale New Haven Hospital by ambulance, and an electrocardiogram suggested she had an irregular heart rhythm (also known as an arrhythmia).

Jagrosse was referred to Yale Medicine’s Rachel Lampert, MD, a cardiologist and electrophysiologist (someone who specializes in cardiac rhythm disorders). After reviewing her electrocardiogram—also known as an ECG or EKG—Dr. Lampert diagnosed Jagrosse with long QT syndrome (LQTS), a rare inherited condition characterized by an abnormality in the heart’s electrical system that can increase a person’s risk for fainting, seizures, and sudden cardiac (heart-related) death.

“I had never heard of the condition and had no clue that I could have something like this,” says Jagrosse. Her only symptom had been a few fainting episodes during her first pregnancy in 2010. At the time, her physicians attributed it to being pregnant during an incredibly hot summer.

People with LQTS may have symptoms triggered by stress, exercise, and sudden noises. In Jagrosse’s case, the hormonal changes of pregnancy may have brought about the fainting spells. “We’ll never know for certain if the fainting was related to a long QT-related arrhythmia or the pregnancy itself, but it certainly raised a red flag,” Dr. Lampert says.

Jagrosse’s ECG showed a prolonged QT interval. An ECG maps the electrical impulse leading to the heartbeat, called the P, Q, R, S, and T waves. The QT interval represents the time it takes for the electrical impulse to move through the heart’s bottom chambers (ventricles) and then reset. In people with LQTS, the QT interval lasts longer than it should.

This disrupts the timing of the heartbeat and can cause sudden and uncontrollably fast heart rhythms, which are sometimes dangerous enough to be fatal. In some people with LQTS, cardiac arrest (when the heart suddenly stops pumping) is the first sign of the condition. People can die within minutes unless they receive a shock from an AED (automated external defibrillator), a portable device that can restore a normal heart rhythm in the event of a cardiac arrest.

Further testing for Jagrosse included an exercise stress test to show how her heart rhythm responded when working hard and a Holter monitor, which is a battery-operated, portable ECG device. Jagrosse wore the monitor for a few days to let Dr. Lampert see the patterns of her heart rhythm during that time.

Most LQTS cases are linked to mutations in specific genes, which can be passed from parent to child. When genetic testing confirmed a diagnosis of LQTS, Jagrosse not only had to learn how to manage her own disease, but she needed to know if her first child and her unborn child were also affected by it.

Jagrosse worked with Dr. Lampert to come up with a plan for testing her children. Around this time, Dr. Lampert and Cheyenne Beach, MD, her colleague in pediatric electrophysiology, were preparing to launch the Family Inherited Arrhythmia Program. The program, which is a part of Yale New Haven Health’s Heart and Vascular Center and the Children’s Heart Center, is directed by Dr. Beach and includes Dr. Lampert, Jeffrey Vinocur, MD, a pediatric cardiologist and electrophysiologist, and genetic counselors.

The program sees patients with LQTS and other rare inherited arrhythmia disorders that can lead to sudden cardiac death and other problems. These disorders include Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), short QT syndrome, and idiopathic ventricular fibrillation.

Investigation after the sudden death of a young family member is another situation that may bring a family to the program.

The Family Inherited Arrhythmia Program is designed for families like Jagrosse’s. The concept is unique in that an entire family (which can include parents, children, grandparents, and even extended relatives like aunts, uncles, and cousins) is seen during the same appointment. This makes sense for many reasons, Dr. Lampert explains. Because disorders like LQTS often run in families and can be dangerous, it’s important to know which family members are affected by them.

The program, which sees patients at the Yale New Haven Heart and Vascular Center office in North Haven, Conn., and opened in 2022, offers genetic and other needed testing. When multiple cases in a family are suspected or confirmed, the family meets with Drs. Beach or Vinocur and Dr. Lampert at the same time and have all their questions answered. This is also helpful for the physicians. “Dr. Lampert and I can get the story from multiple people at once; we can combine our efforts to determine the best diagnostic and treatment strategies for the whole family,” Dr. Beach says.

This can really benefit the family, too, Dr. Beach adds. “They see how we approach the condition, and they receive information in a streamlined way. If a mother has a question about her medication, for example, we can talk about how that same medication may or may not help her child with the same condition. The pediatric electrophysiologist is there to address those questions immediately and directly,” she says.

Furthermore, many of these arrhythmia conditions are complicated. “It can be confusing to hear different explanations from different providers. When we’re all in the same room, we can have a discussion and make sure everyone is on the same page about our thoughts and plans,” Dr. Beach says.

Families can be referred to the program by their providers. They can also call and make an appointment themselves, without having a referral.

Ultimately, the goal is to prevent sudden cardiac death, Dr. Lampert explains. “That’s why we are often evaluating asymptomatic people. Many of these genetic arrhythmia diseases carry the risk of sudden death. If we know what someone has, we can use preventive measures like medications or an at-home device like an AED,” she says.

In rare cases, an implanted defibrillator may be needed or, in some cases, medications, she adds.

Dr. Lampert prescribed a beta blocker medication called propranolol, which can reduce the risk of arrhythmic events, for Jagrosse. The medication, taken as a pill, manages her condition well. “I haven’t had any feeling of fainting or lightheadedness at all since I started it,” Jagrosse says.

When Jagrosse’s son Isaac was born in 2020, he and his 10-year-old brother, Dante, were given a genetic test (via cheek swab) for LQTS. Both boys tested positive for it. The brothers were both prescribed a beta blocker, just as their mother was. Due to his young age, Isaac was initially seen by Dr. Beach for a checkup with an ECG every six months. Now, he, Dante, and their mother go for their family appointment once a year.

“It was hard to find out that my two boys have it, too. I almost felt guilty, even though I know it’s something I couldn’t help. I’m just glad it can be managed,” Jagrosse says.

Jagrosse also has a 2-year-old, Gia, who was tested for the LQTS gene but does not have it. “In this situation, if you don’t have the gene variant that runs in the family, then we don’t need to be concerned for LQTS,” Dr. Lampert explains. “But if you do, we need to embark on a clinical evaluation to see how much it is impacting your heart.”

Jagrosse says the family-centric approach suits her well. “I really like the setup. They take us to the same room, and they come and talk to us at the same time. I like both doctors a lot, and it’s nice to get all the information we need at the same time,” Jagrosse says. “I work as a full-time technician at a doctor’s office, so it’s easier for me to schedule things this way, too.”

While both boys are being treated effectively, it’s still important that they be monitored regularly, Jagrosse says. “As they get older, we have to keep an eye on them. They don’t have a lot of restrictions, as long as they aren’t doing anything risky like skydiving,” she says.

“Exercise can be low risk for people with LQTS if their condition is well-managed,” Dr. Lampert explains. “But it’s not that the risk is zero either, so you don’t want to put yourself in situations, like open-water swimming, where you could die if something happened with your heart.”

Furthermore, LQTS can manifest differently between people in the same family, even when they carry the same genetic mutation, she adds. “It’s really important that we continue to follow them clinically because they all may develop differently,” she says.