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When 20-year-old Sarah was ten weeks pregnant, her doctor strongly advised her to terminate her pregnancy. Sarah was born with mitral valve prolapse, a condition in which the mitral valve (the valve between the left collecting and left pumping chambers) is floppy and leaking. Sarah’s sister, who had suffered from an aortic valve problem, had died when she was pregnant after her aorta ruptured.
Desperately seeking a second opinion, Sarah came to Dr. Rachel Wald, an adult congenital heart disease expert at the Hadassah Medical Organization. Sarah's condition, says Dr. Wald, "really shouldn’t have put her at prohibitively high risk for pregnancy. I didn’t think she should terminate her pregnancy even though she had a significant valve problem.” The risks could be handled, she believed.
For Dr. Wald, it was imperative to determine how Sarah's issue was related to her sister's. A troubling sign was that Sarah’s aortic root, the origin of the heart’s largest artery, had an unusual appearance and appeared to be enlarging, perhaps as her sister’s had. A multidisciplinary team at Hadassah hospitals, including cardiologists, high-risk obstetricians and genetics specialists, reviewed the case in an attempt to map out further management for Sarah.
The decision was made for Sarah to undergo an expedited cardiac MRI and urgent genetics assessment. Fortunately, the aortic measurements were not large enough to put her in imminent danger. But the geneticists had shocking news. Sarah had Marfan syndrome, a genetic condition that affects the body's connective tissues. People suffering from this syndrome are typically tall and thin, with long limbs. Sarah was not tall or long-limbed. The diagnosis of Marfan syndrome could not be made with certainty until bloodwork identified a mutation in the fibrillin gene.
Women with Marfan syndrome are generally advised to take preventative medications to protect their aortas from enlarging during pregnancy. Sadly, her sister had not received that advice. Sarah received proper care, and she delivered her baby naturally and without complications. She has a beautiful baby girl who is healthy and thriving. She is an exuberant new mother.
"If she hadn’t come to Hadassah hospitals, she may have terminated her pregnancy, thinking the pregnancy risk was too high," Dr. Wald said.
“This new diagnosis is critical not only for Sarah and her husband but for others in her generation and the generations to come,” she continued.
Marfan syndrome is usually, but not always, hereditary. Once the diagnosis is established, there is a 50 percent risk of transmission to offspring.
Identifying details, such as the patient's name and age, have been changed.
