A Young pregnant woman's uncommon illness is discovered after a telemedicine visit.

When Cristina Bashans learned she was expecting her second child last summer, she had no notion that she would be endangering her life.

A local cardiologist had been treating the Saginaw, Michigan, resident for supraventricular tachycardia, a disorder that causes the heart to beat quickly. Imaging results from a routine cardiology visit that coincided with Bashans' pregnancy showed that she also had an aortic aneurysm, a protrusion in a weak spot in her aorta.

The 22-year-obstetrician old's was worried about it, but not because of how big the aneurysm was; rather, he was worried about what might have caused it. Marfan syndrome, a connective tissue condition that can compromise the aorta and increase a patient's risk of a potentially fatal aortic dissection, was suspected by Bashans' doctors.

Pregnancy increases the risk.

When the aorta's weaker layers peel apart or rupture, the blood becomes trapped between them and causes an aortic dissection. The body's major artery, the aorta, becomes even frailer as a result, and it may even burst.

However, Bashans' gynecologist directed her to the Frankel Cardiovascular Center at the University of Michigan Health after genetic testing ruled out Marfan syndrome. This facility is renowned for its excellence in high-risk pregnancies and cardiovascular disease.

Establishing the Diagnosis

Elizabeth Langen, MD, of the Cardio-Obstetrics Program at U-M Health was waiting for her there. Langen, an expert in maternal and fetal medicine, would assist in overseeing Bashans' care throughout her pregnancy. Other medical professionals would also be needed to treat Bashans, such as the cardiologist Marion Hofmann, M.D., who first met her through telehealth.

"The patient made a virtual appointment with me when she was 32 weeks pregnant. Only a video visit allowed me to conduct my assessment, but I was still able to identify several traits that suggested the existence of Loeys-Dietz syndrome, or LDS, said Hofmann. Despite the fact that Marfan patients and those with the syndrome share many traits, I was able to pick up on a few minor distinctions during our video visit.

Hofmann remarked that "Because the patient was in her third trimester of pregnancy, we recognized that it was crucial to get a diagnosis." Loeys-Dietz, like Marfan syndrome, can affect the aorta and result in a dangerous dissection.

Loeys-Dietz syndrome, a rare hereditary connective tissue illness that can affect blood vessels, including the aorta, as well as bones, joints, and internal organs, was validated by a further genetic test that was also conducted remotely. A mutation in the TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3 genes is the cause of it.

The syndrome frequently stays undiagnosed until an aortic aneurysm or dissection is found on a CT scan or echocardiography, as in Bashans' case.

Scoliosis, long, slender fingers, flexible joints, a small or receding chin, translucent skin, and irregular wound healing after surgery or trauma are some of the traits some patients have. However, not all people with Loeys-Dietz syndrome have these symptoms, claims Hofmann. Genetic testing is often advised for first-degree relatives, such as parents, siblings, and children because the disorder might be inherited.

The appropriate call and group

By classifying the woman as high risk and referring her to our team, the patient's obstetrician made the right decision, according to Hofmann. She was at significantly higher risk because of her pregnancy because LDS patients have a high risk of dissection.

Hofmann gives credit to the telemedicine consultation, which saved Bashans from having to travel a great distance to U-M Health.

Because of this, patients can now keep appointments, which is crucial. The hurdles to receiving expert care are removed through telemedicine.

Hofmann emphasizes the significance of Bashans receiving medical care at a center of excellence with highly qualified staff.

Our interdisciplinary team included cardiologists, genetic counselors, high-risk cardio-obstetrics specialists, and surgeons if needed. We collaborated closely at a center of excellence to provide the required knowledge, including choosing the safest delivery method.

Lorenzo joined his older brother, Bryson, after Bashans underwent a cesarean delivery in March after being induced at 36 weeks.

Considering the future

She will undergo routine examinations and vascular imaging, just like every other patient with Loeys-Dietz syndrome, to ascertain when she should be referred for elective aortic repair surgery to prevent aortic dissection, according to Hofmann.

She is also being treated for high blood pressure, which puts stress on weakened parts of the aorta wall, and is sticking to lifestyle adjustments - no heavy lifting or future pregnancies, which will place her at increased risk for aortic dissection.

A second pregnancy would be extremely risky, according to Hofmann.

"We will continue to closely observe Cristina to decide the best course of action after a postpartum MRI revealed that her aorta had expanded."

Bashans knows how important it is to take care of herself in addition to her 6-year-old and newborn sons.

"I must keep reminding myself of my restrictions and medical condition. My previous pregnancy was quite difficult, said Bashans. "I'm really happy everything worked out."