Congenital Heart Disease: Lost In Transition

Published on in Children's Doctor

Case: A 34-year-old woman presents to establish care with the Adult Congenital Heart Disease (ACHD) Clinic and is 29 weeks pregnant. She reports that she had a murmur in infancy and underwent surgery at age 5, but she does not know the details. She was followed by a cardiologist until she was 18 years old and has not seen anyone since. She did well growing up and was not aware that she needed cardiology follow-up. She had a pregnancy at age 30 complicated by preeclampsia and preterm delivery at 30 weeks.

Currently, she is feeling well, but is not active and was told by other physicians to “not get her heart rate up.” Her exam is notable for a harsh 4/6 systolic ejection murmur at the left upper sternal border. Her echocardiogram demonstrated severe left ventricular outflow track (LVOT) obstruction from a subaortic membrane with a peak gradient of 117 mmHg and mean gradient of 74 mmHg. She had normal ventricular function. Her vitals were normal, and she appeared well.

She established care with high-risk obstetrics and was followed very closely through the remainder of her pregnancy. Despite severe LVOT obstruction she did well, though remained restricted in her activity. Given the severity of her obstruction, she delivered at 37 weeks via scheduled c-section with invasive (arterial line) monitoring. Her course was only complicated by brief episodes of nonsustained ventricular arrhythmia. She was discouraged from further pregnancy until her LVOT obstruction had been addressed.
The following year, she underwent repair of her severe LVOT obstruction with resection of the subaortic membrane. After this she did very well and was able to run several miles and hike while pushing a stroller. She was much more active than she had been in the past. She now follows up on regular basis with her ACHD provider.

Lost to care

Discussion: Adults with congenital heart disease (CHD) now outnumber children with CHD because of excellent surgical and medical care in childhood. Lifelong cardiology follow-up is recommended for almost all people with congenital heart disease. Interventions done in childhood are typically palliative and not curative.

It is recommended that patients with moderate and complex congenital heart disease be followed by a specialist trained to care for adults with congenital heart disease (ACHD). Ideally, patients will transition their care from pediatric to adult-oriented care around the age of 18 to 22 years old. Transition is not just transferring from one physician to another, but a process when people can learn about their heart disease and take ownership of their healthcare.

Failure to transition is very common and occurs in up to 60% of some patient groups. Patients may be unaware of the need for follow-up or feel they have been “cured.” Those lost to follow-up are more likely to present back to care in need of urgent intervention and are at risk for not receiving guideline
recommended care. Failure to transition also results in increased healthcare utilization, including emergency room visits.

Establishing care with the appropriate ACHD provider ensures that guideline recommended follow-up is provided and that residual heart disease can be addressed. This case illustrates the importance of successful transition of care and how failure to transition can impact patients during otherwise joyful moments in their lives. In this case, the patient was not aware of her own
diagnosis or the need for regular follow-up. It is especially important that women with congenital heart disease be followed by both cardiac and obstetric specialists who can help them understand the risks of pregnancy and how pregnancy can be achieved safely.

Many women with CDH are able to have safe pregnancies, but pregnancy causes significant hemodynamic alternations to the body and some forms of heart disease tolerate this poorly. Women with severe left ventricular outflow track obstruction are considered at high risk for cardiac and obstetric complications, and pregnancy is discouraged. Though she did well with pregnancy, our patient was at significant risk for complications that may have been avoidable. Routine follow-up with an ACHD provider likely would have identified the significant outflow obstruction, and surgical intervention would have been pursued prior to pregnancy.

ACHD Take Home Points

  • Patients with congenital heart disease are not cured of their disease after treatment in childhood.
  • Patients with complex congenital heart disease have better outcomes when cared for in an integrated, collaborative, and multidisciplinary program.
  • Transition education should begin in adolescence and continue until successful transition to adult-oriented care.
  • Failure to transition and gaps in care lead to increased hospitalizations, need for urgent interventions, and increased morbidity.
  • The Philadelphia Adult Congenital Heart Disease Clinic (215-615-3388) is a joint program of Penn Medicine and Children’s Hospital of Philadelphia and is an Adult Congenital Heart Association ACHD Comprehensive Care Center specializing in the care of adult patients with congenital heart disease.

Adapted from De Terranti et al.

References and suggested readings

Stout, KK, et al., 2018 AHA/ACC guideline for the management of adults with congenital heart disease: executive summary: a Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;139(14);e637-e697.

Yeung, E, et al., Lapse of care as a predictor for morbidity in adults with congenital heart diseaseInt J Cardiol. 2008;125(1);62-65.

Gurvitz, MZ, et al., Changes in hospitalization patterns among patients with congenital heart disease during the transition from adolescence to adulthood. J Am Coll Cardiol.2007;49(8);875-882.


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