The Greatest Gift: Motherhood in the Face of Rare Heart Rhythm Disorder

Alyssa Machain and her husband, Brandon, knew from the start they wanted three or four children. For most young couples, having a big family is well within reach. But for Machain, now 35, even one pregnancy could put her and the baby at risk.

That’s because she has a rare heart-rhythm disorder called catecholaminergic polymorphic ventricular tachycardia (CPVT). It often runs in families (Machain’s mother, sister and brother also have it), and causes the heart to beat abnormally fast during physical activity and emotional stress. Not everyone develops symptoms, but people who do often experience dizziness, loss of consciousness and even death.

“I was diagnosed at age 12 after passing out and was put on beta-blockers to keep my heart rate under control,” says Machain of Bethlehem. “I never had another issue after that and have lived well with my condition.”

But she also knew pregnancy could pose special risks, because both pregnancy and pain during labor naturally raise a woman’s heart rate. Either could cause Machain’s rhythm disorder to flare up, endangering her and the baby. Also, Machain’s baby had a 50/50 chance of inheriting CPVT. Yet she remained determined to start a family – as long as she could be closely monitored by a team of doctors and nurses throughout her high-risk pregnancy.

Machain contacted the Heart and Pregnancy Program at Lehigh Valley Health Network (LVHN), which offers specialty care for pregnant women with heart disease. Cardiologist Amy Ahnert, MD, and maternal fetal medicine specialist Joanne Quinones, MD, helped Machain map out her care over the next few months. “They took my CPVT very seriously and really understood the impact it would have on my pregnancy,” she says.

Ahnert and Quinones regularly monitored Machain and the baby to ensure her beta-blocker kept her heart rate under control and that it didn’t produce side effects (such as a slower heart rate) in the baby. “Working as a team – cardiology, maternal fetal medicine, anesthesia and nursing – we also developed a very detailed plan to prepare us for any possible problems,” says Ahnert, who practices with LVPG Cardiology–1250 Cedar Crest. “We even ran through scenarios in a hands-on simulation lab so we were prepared if she had a heart arrhythmia during labor.”

While the team needed to increase the dose of her beta-blocker during the third trimester when her heart rate began to climb, Machain’s pregnancy otherwise proceeded without incident.

At Machain’s final checkup, the day before she was due, Quinones noticed fluid on the baby’s heart. She decided to induce labor.

“Unfortunately, with every contraction, the baby’s heart rate dropped dangerously,” says Quinones, who practices with LVPG Maternal Fetal Medicine. “The baby was smaller than average and wasn’t tolerating labor, so we did a C-section the next morning. They both did well and went home a few days later.”

Today, that baby – Afton Machain (named after Brandon’s great-grandfather) – is 7 years old. He was born with CPVT, identified through genetic testing. He’s on a beta-blocker and will be until he’s older, when doctors can determine if he is likely to develop symptoms.

In May 2016, Alyssa and Brandon Machain welcomed a second baby to the family – Oliver Machain. “Doctors Ahnert and Quinones saw me again for my second pregnancy and were just wonderful,” Alyssa says. “I couldn’t be happier with the care I received. My pregnancy and labor went very smoothly. And we’re happy to say that Oliver was born without the heart condition.”

For Alyssa and Brandon, the decision to have a third child was easier to make because of the care Alyssa received with her first two children and the relationship she had with Ahnert and Quinones. “There wasn’t a second thought,” Alyssa says. “They’ve given me the greatest gift. Even besides giving me the gift of my children, they’ve given me the gift of peace of mind.”

Their third child, Sophia, was born on May 27, 2021 and she has CPVT. If Sophia wants to have children someday, Alyssa says she hopes Ahnert and Quinones are still practicing. “I would just say, ‘Go to them. You’ll be fine.’”