Clinical Spotlight

A coordinated, collaborative approach to maternal fetal medicine

Collaboration is the key to the success of the Cardiovascular Disease and Pregnancy Program. A joint effort of Boston Children’s and Brigham and Women’s Hospital, the program offers a coordinated approach to maternal fetal medicine, bringing together a team of cardiologists, obstetricians, anesthesiologists and researchers. The program is directed by Boston Children’s Hospital’s Anne Marie Valente, MD, along with obstetrician Katherine Economy, MD, and cardiologist Rena Pande, MD.

On the clinical side, the program cares for women with congenital and other pre-existing heart and vascular diseases or cardiovascular conditions arising during pregnancy. The program also has strong education and research components that Valente hopes will help guide practitioners in caring for pregnant women with heart conditions.

The program was created in response to the high volume of women with heart conditions who were interested in pregnancy and are cared for by the Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension Service. Valente states that “when girls were born with heart disease decades ago, their parents were often instructed to limit their physical activity or that pregnancy would not be in their future.” However, many women with congenital heart disease are choosing to undergo pregnancies because of advances that have been made in the treatment of congenital heart conditions, as well as our increased knowledge of the hemo­dynamic changes during pregnancy. “Our knowledge of the impact of heart conditions on pregnant women has changed, making pregnancy more viable and manageable,” Valente says.

To care for this growing group of women, BACH needed “an organized process.” Managing that process is the mission of the Cardiovascular Disease and Pregnancy Program.

Valente and her colleagues participate in a weekly clinic at Brigham and Women’s Hospital and see women with heart conditions on the same day as Dr. Economy’s team. There is a monthly conference, coordinated by Nancy Bark­er, PA-C, of Boston Children’s, to review each patient and make delivery plans on a case by case basis. Valente explains that “some women who are at higher risk for a cardiac complication during pregnancy need a plan—how much fluid to give, what kinds of medicines they need, and, if they need to go in for an (emergency) procedure, how best to execute this plan.” This weekly conference is attended by members of the maternal fetal medicine team, obstetrical anesthesia team, under the direction of Jean Marie Carabuena, MD, and the BACH clinicians, under the leadership of Michael J. Landzberg, MD. The weekly Cardiovascular Disease and Pregnancy clinic is also staffed by other BACH team members, including Michael Singh, MD who directs the care of women with connective tissue disorders and Caitlyn Joyce, PA-C.

Along with planning and care, Valente says that “part of our role is to educate the community and the families.” Women need to know that, despite advances, “there is absolute risk for complications because of the huge hemodynamic load on the body for the nine months of pregnancy and in the post-partum period.” Also, women need to know that, through the Cardiovascular Disease and Pregnancy Program, “there’s a coordinated team here to help them, a team that works directly with their obstetrician and is available at all times.”

Building on the clinical and educational work is the program’s research effort. With funding from a Watkins Discovery Award in Cardiovascular Medicine from Brigham and Women’s, the Cardiovas­cular Disease and Pregnancy Program is in the second year of a research initiative called STORCC (standardizing outcomes in reproductive cardiovascular care). According to Valente, STORCC is currently collecting data on more than 100 women who are at different stages of pregnancy. Women in the program are asked to fill out questionnaires about their pregnancy and their post-partum experiences. The research coordinators for this project, Amy Harmon, BA, and Jenna Schreier, BA, work closely with the cardiology and obstetrical teams.

Based on the experience of the past few decades, Valente says that “we know that many women with heart conditions are living active, functional lives... Some may have complications or issues,” she concedes, “but that does not necessarily mean that they can’t undergo pregnan­cy.” Through STORCC, “we’re looking at exercise tolerance and certain imaging parameters, but not getting hung up on the fact that they had a heart condition when they were little,” Valente states.

Previous studies done on pregnant women with heart conditions are “largely retrospective and report up to a 20% chance of maternal complications,” Valente says. With STORCC, more contemporary information will be available to guide care. Preliminary results of the STORCC study will be prepared in June.

Research, education and the coordination of care between different institutions and specialties should lead to better outcomes for patients, Valente believes. “The field of maternal fetal medicine is a field that we, as cardiologists, often don’t think about,” she says. “For example, many cardiologists don’t necessarily discuss contraceptive or reproductive counseling with woman of childbearing age, which may be a missed opportunity.”

Valente has high praise and high hopes for the Cardiovascular Disease and Preg­nancy Program. “It’s been a very reward­ing experience for us to work with obstetricians, anesthesiologists and oth­ers who care for pregnant women with heart conditions,” Valente asserts. “It would not be possible without the support of the BACH administrators, Lauren Serge and Samantha Buechner, who work very hard to ensure that patients are seen in a coordinated, timely fashion. It hasn’t been easy to do, but thanks to a great team of committed provider, it's been enormously successful."

A family-based approach to inherited arrhythmia

"It runs in the family"

That’s a statement doctors are listening for when they ask their patients about cancer, heart disease, diabetes and many other conditions. Because a wide range of diseases show up again and again in families, generation to generation, family histories are critical for doctors making accurate diagnoses and determining effective treatments.

Given the significance of family histo­ries, Dominic Abrams, MD, of the Cardi­ology Department at Boston Children’s Hospital, is developing a new approach to treating inherited diseases, an approach that looks at the entire family rather than just the single patient.

A major feature of many inherited heart conditions is arrhythmia, which is a disturbance in heart rhythm. This condition includes the arrhythmic syndromes, such as long QT syndrome (LQTS), Brugada syndrome (BS) and catecholaminergic polymorphic ventric­ular tachycardia (CPVT), where rhythm disturbances are the only feature. The condition also includes cardiomyop­athies, such as arrhythmogneic right ventricular cardiomyopathy and hyper­trophic cardiomyopathy, where arrhyth­mia is associated with heart muscle conditions. The arrhythmia associat­ed with these conditions can lead to palpitations, syncope (black-outs) and sudden cardiac death, often in response to specific triggers.

According to Abrams, arrhythmias show “dominant inheritance.” “People who have a first-degree relative with one of these conditions, typically have a 50% chance of also having the condition,” he says. Moreover, “most of these con­ditions can affect individuals from the womb into your 80s, meaning assess­ment of the whole family, irrespective of age, is of great importance.”

Through the new program called “Inherited Cardiac Arrhythmia Program” Abrams and his colleagues are helping to develop more familial-based services for inherited arrhythmia. The program centers on meetings with entire families that take place all at once, usually in one day. This approach, Abrams explains, creates a “one-stop shop where we can diagnose problems and come up with a plan.”

Diagnosing inherited cardiac condi­tions is “often a detective game,” Abrams states. “We know that some family members, especially children, may show no or only very subtle evidence of the disease, making accurate clinical diagnosis challenging.” Genetic test­ing, he says, is an increasingly useful mechanism to identify all family mem­bers at risk of developing the condition, although the results require detailed evaluation and correlation with clinical findings.

When doing this “detective” work, Abrams and his team start by looking at first-degree relatives. For example, if one family member is diagnosed with a condition, shows symptoms or suddenly dies from a known or suspected arrhyth­mia, “we get as much information as we can ahead of time—autopsy results, results of an EKG performed for anoth­er reason—so when the family walks through the door, we have a targeted and family-specific approach to the next wave of investigations.” Complete med­ical information is gathered, and genetic testing results, if available, are used to reveal an inherited heart condition.

During the day-long meetings, chil­dren are typically seen in the morning and undergo specific investi­gations, while parents and other adult family members are seen in the afternoon. At the end of the day, findings are explained to the entire family, and a plan for further tests or treatment is presented. Not only does this strate­gy make clinical sense by allowing for more comprehensive interpretation of clinical and genetic data, but, as Abrams explains, it also allows for exciting research opportunities. “Occasionally, findings in one family shed new light on our understanding of the genetic basis of one specific condition and have sig­nificant implications for other patients.”

This all-day, all-inclusive approach was designed, Abrams says, “to make sure the whole family is looked after and is getting a consistent and clear message, avoiding the problem of having the family spread over different centers and allowing us to identify similarities and variability between individuals.”

Ultimately, Abrams and his colleagues are seeking to create the family-cen­tered, coordinated approach funda­mental to the investigation and care of families with inherited cardiac condi­tions.

The Inherited Cardiac Arrhythmia Program is evolving rapidly, and Abrams and his team at Boston Children’s are working in close collaboration with colleagues at neighboring affiliated hospitals.