Running head: CONGENITAL HEART DEFECTS Congenital Heart Defects and the Need for Transitional Services Brandon Howell North Greenville University 1 CONGENITAL HEART DEFECTS 2 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 CONGENITAL HEART DEFECTS 3 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 CONGENITAL HEART DEFECTS 4 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.). CONGENITAL HEART DEFECTS 5 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. CONGENITAL HEART DEFECTS 6 Reference List Adult Congenital Heart Disease. (n.d.). Retrieved April 7, 2015, from http://www.abim.org/specialty/adult-congenital-heart-disease.aspx. Down Syndrome (Trisomy 21). (2014, June 17). Retrieved April 4, 2015, from https://www.dshs.state.tx.us/birthdefects/risk/risk3-downsyndrome.shtm. Marelli, A., Ionescu-Ittu, R., Mackie, A., Guo, L., Dendukuri, N., & Kaouache, M. (2014, June 18). Congenital Heart Disease: Lifetime Prevalence of Congenital Heart Disease in the General Population From 2000 to 2010. Retrieved April 7, 2015, from http://circ.ahajournals.org/content/115/23/2995.full. Oster, M., & Gurvitz, M. (2015, March 1). Why lifelong care for patients with congenital heart defects is important. Retrieved April 5, 2015, from http://aapnews.aappublications.org/content/36/3/8.extract. Rosenbaum, M. (n.d.). Adult Congenital Heart Center. Retrieved April 7, 2015, from http://www.cumc.columbia.edu/dept/congenitalheart/. Trisomy 18 (Edward's Syndrome). (2012, February 10). Retrieved April 9, 2015, from https://www.dshs.state.tx.us/birthdefects/risk/risk11-trisomy18.shtm. Warnes, C., Williams, R., Bashore, T., & Et al. (2008). ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of A. Retrieved April 9, 2015, from http://content.onlinejacc.org/article.aspx?articleid=1188032. Webb, G., & Williams, R. (2001). 32nd Bethesda Conference: “Care of the Adult With Congenital Heart Disease”. Retrieved April 6, 2015, http://www.achaheart.org/Portals/0/pdf/BethesdaFull.pdf.