Running head: CONGENITAL HEART DEFECTS
Congenital Heart Defects and the Need for Transitional Services
Brandon Howell
North Greenville University
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CONGENITAL HEART DEFECTS
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Children are born every day with congenital heart defects throughout the world. In the
United States where over 40,000 babies are born yearly about one out of every 110 births have a
congenital heart defect (Oster & Gurvitz, 2015). Congenital heart defects were originally
associated with pediatrics because most never reached adulthood. Now with technological
advances, the survival rates for these babies have increased, creating a need for them to receive
continued and specialized care. The problem is that adult cardiologists have not been trained in
congenital heart defects and pediatric cardiologists are not trained to treat adults. Unfortunately
these patients get lost in the system or forgotten about when they become adults, resulting in a
global health concern.
Epidemiological Background
Congenital heart defects are most often associated with genetic syndromes such as
Trisomy 18 (Edward’s Syndrome) and Trisomy 21 (Down’s Syndrome). Many of these
pregnancies spontaneously abort due to the severity of the chromosomal defect, lowering the
number of live births (“Trisomy 18”, 2015). Babies that are born prematurely also have a higher
incidence of congenital heart defects. Maternal illnesses and conditions such as diabetes, thyroid
problems, environmental exposures, or a family history of heart disease can attribute to pre-term
births (Jenkins, 2007). A majority of the babies born with chromosomal defects are born
prematurely (“Trisomy 18”, 2015).
Down’s syndrome is the most common chromosomal disorder. Congenital heart defects
affect around 50% of these live births. There are more males born with Down’s syndrome than
females. About one out of 800 births are diagnosed with Down’s syndrome. Race and economic
factors do not seem to have much influence (“Down Syndrome”, 2015). The second common
chromosomal disorder is Edward’s syndrome, Trisomy 18. More than 90% of these live births
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have congenital heart defects. One out of 6,000-8,000 live births are diagnosed with an extra
18th chromosome and are more common in females than males. A study revealed that more
Trisomy 18 cases may be associated with an urban geographic location, (“Trisomy 18”, 2015).
The age of the mother increases the risk for both of these chromosomal defects (“Down
Syndrome”, 2015).
Types of Interventions /Programs Needed
Interventions are needed to address the growing population of adults with congenital
heart defects. Adult cardiologists need to either receive additional training on how to treat
congenital heart defects or add a team member to their practice who has received their adult
congenital heart defect certification (ACHD). Another option is for pediatric cardiologists to
become certified in treating ACHD (Webb & Williams, 2001). Primary care physicians and
pediatricians need to become more aware of the growing need for transitional services and
continued care for their adolescent and adult patients with congenital heart defects. They should
seek out and coordinate care with a certified congenital heart defect cardiologist for these
patients. In addition, they should discuss and prepare the patient and their family for this
transitional phase and explain to them why they need a transitional doctor and/or a certified
congenital heart defect cardiologist (Oster & Gurvitz, 2015). All medical facilities such as
emergency rooms, urgent care centers, and general practices need to be trained and informed
about the growing adult congenital heart defect population so they can properly serve those
patients who either have not been receiving care or whose primary care physician has yet to
become aware of this growing need (Warnes et al., 2008).
By incorporating transitional physicians and services into the global medical environment
and familiarizing patients, physicians, and medical facilities about this program it will allow
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better long term health management to be provided. It will also provide a seamless transition by
familiarizing both the patient and physician with each other in preparation should a medical
necessity or emergency arise (Webb & Williams, 2001). Without a program of this nature,
patients may become frustrated and forego medical treatment or attention they need, which could
result in further health problems. A program of certified ACHD physicians will continue to
promote life and better long term health for adults with congenital heart defects (Warnes et al.,
2008)
Summary of Current Research/Interventions Already Addressing the Issue
Fortunately it was recognized a few years ago that there was a growing number of adults
with congenital heart defects as a result of medical advances in technology, procedures, and
treatments. This created a need for a new type of cardiologist. This physician would need to be
able to treat children and adults with congenital heart defects; therefore, a new sub-specialty
requiring certification was created (Webb & Williams, 2001). It has been a slow process
because the need had to be recognized, training developed, and time allowed for certifications to
be completed. The adult congenital heart disease certification program is provided by the
American Board of Internal Medicine. To gain and maintain certification in adult congenital
heart disease, doctor’s must have a current medical license with current and valid certification
from the American Board of Internal Medicine in either Cardiovascular Disease or Pediatric
Cardiology (“Adult Congenital”, n.d.). Columbia University Medical Center in New York
started accepting applications in 2014 for a two year fellowship in adult congenital heart disease
provided applicants have already completed a fellowship in adult or pediatric cardiology
(Rosenbaum, n.d.).
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Conclusion
Many children continue to be born each year with congenital heart defects due to various
genetic and environmental factors worldwide. In the past, the majority of these children never
became adults; however, medical advances in technology have enhanced the lives of these
patients allowing them to survive and enter adulthood. This has created a need for a new breed
of doctors who can treat both pediatric and adult patients with congenital heart defects. These
new physicians are often referred to as adolescent physicians or transitional physicians
specializing in ACHD. Growth in this new sub-specialty and the education of all physicians and
medical personnel will result in a better future for adults with congenital heart defects.
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Reference List
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Rosenbaum, M. (n.d.). Adult Congenital Heart Center. Retrieved April 7, 2015, from
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