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Congenital Heart Defects Congenital Heart Defects KNOW THE FACTS What is a congenital Detection heart defect? When can CHDs be detected? Congenital heart defects (CHDs) are problems present CHDs can be detected as early as the prenatal period or at birth that affect the structure or function of the heart. as late as adulthood (or escape detection altogether).2 They can affect how blood flows through the heart and The more severe the form of CHDs, the more likely it is to out to the rest of the body. be detected earlier.3 There are many types of heart defects, with different degrees of severity based on size, location, and other associated defects. Common examples include holes in different areas of the heart and narrow or leaky valves. In more severe forms of CHDs, blood vessels or heart chambers may be missing, poorly formed, or in the wrong place. Approximately 120 infant deaths are prevented each year with pulse oximetry screening What is the difference between congenital heart defect and congenital heart disease? These terms are often used interchangeably and How can CHDs be detected? are nearly synonymous. However, there is a slight There are a number of tools that can be used to aid difference between them. A congenital heart defect in the diagnosis of CHDs, including echocardiogram, refers specifically to a problem with the formation electrocardiogram, chest X-ray, chest CT, cardiac of the structure of the heart or major heart vessels in MRI, and prenatal ultrasound.4 One or more of these utero. Congenital heart disease refers to the clinical diagnostic tests may be ordered if a healthcare provider manifestation of an underlying anatomical defect, or finds a reason to suspect that the child has a CHD or if the more broadly describes functional problems which may child fails a newborn screening test. be congenital, including certain arrhythmias. What is newborn screening for critical congenital heart disease? CHDs include holes in the inside Newborn screening for critical congenital heart disease walls of the heart and narrowed or uses pulse oximetry to check the level of oxygen in the leaky valves. In severe forms of CHDs, blood of newborns. This test is painless and non-invasive, blood vessels or heart chambers may which means that nothing is inserted into the newborn. be missing, poorly formed and/or in In 2011, critical congenital heart disease was added to the United States Recommended Uniform Screening Panel. It is the wrong places. estimated to prevent approximately 120 infant deaths each year from critical congenital heart disease.5, 6 As of 2018, policies for screening newborns have been implemented What are critical congenital heart defects? in all states in the U.S. Children who fail this screening can then have further testing to evaluate for congenital heart Critical CHDs (CCHDs) are defects that typically result disease or for other potential causes of low oxygen.1 in low oxygen levels in the newborn. Babies with critical CHDs usually require surgery or other procedures in the first year of life. Some examples of critical CHDs include coarctation of the aorta, transposition of the great arteries, hypoplastic left heart syndrome, and tetralogy of Fallot.1 2 Congenital Heart Defects: Know the facts Congenital Heart Public Health Consortium How many children and adults with CHDs are living in Prevalence the U.S.? How many babies are born each year with some form Because there is no population-based surveillance of of CHD? CHDs across the lifespan in the United States, little data are available on children, adolescents, and adults Of the nearly 4 million infants born in the United States living with CHDs. Based on Canadian data from 201014 each year, approximately 3% have some type of birth extrapolated to U.S. Census data, it is estimated that defect.7 CHDs are the most common birth defect, approximately 1 million children (966,000-993,000) and occurring in about 1 in 110 births, or nearly 1% of births. 1.4 million adults (1.41 – 1.46 million) were living in the Thus, in the U.S. approximately 40,000 infants are U.S. in 2010, of whom approximately 12% (290,000) had affected each year. 3, 9-11 severe CHDs. These estimates are increasing over time, especially for adults, as children with more severe defects Worldwide birth prevalence has been relatively stable are having a greater likelihood to survive to adulthood. since 1995 but has significant geographic variation. On average, about 1 in 110 births are affected, representing How does the prevalence of CHDs vary around approximately 1.35 million live births with CHD each year.8 the world? Worldwide birth prevalence of CHD has been relatively stable. Asia has the highest reported birth prevalence of 9.3 per 1,000 (1 in 108 births) and Africa the lowest of 1.9 per 1,000 (1 in 526 births).8 The highest reported total CHD birth prevalence was in high-income countries.8 Because many of these births occur in developing CHDs occur in nearly 1% (1 in 110) of births and countries that lack adequate care for CHD, hundreds of about a quarter are life-threatening. thousands of children die each year from CHDs. In high- income countries, over 85% of children with CHDs survive into adulthood, and as such, the worldwide burden of 15 How many babies are born each year with a critical CHD? adult CHDs is expected to increase. In most Western countries, the number of adults with CHDs outnumbers Approximately 1 in every 4 babies born with a CHD has a the children with an increasing margin. In Canada from critical CHD and needs surgery or other procedures in the 2000-2010 the prevalence of CHDs rose nearly six times first year of life.9, 10 faster among adults than children, and by 2010 adults accounted for nearly 66% of the CHD population.14 How does the prevalence of CHDs at birth compare to other childhood and adult disease states and defects? For comparative purposes, cystic fibrosis occurs in 1 in 3,400 live births,11 autism is diagnosed in 1 in 59 children Mortality aged 8 years,12 and new diagnoses of cancer are made in How do CHDs affect the infant mortality rate in the U.S.? 1 in 6,024 children and teens annually.13 Thus, the public health significance of CHDs in terms of numbers of All birth defects combined account for approximately people affected is much greater than or similar to that of 20% of infant deaths.16 CHDs are the most common disorders having higher levels of public awareness. cause of infant death related to birth defects, accounting for 23.5% of infant deaths due to birth defects in 2014.17 What is the most common form of CHDs in children? In children, the most common form of CHDs is the How many deaths occur from unrecognized CHD? ventricular septal defect, a hole between both main The use of variable definitions and terminology make it lower chambers, or ventricles, of the heart. The severity difficult to accurately determine the number of deaths of the defect depends on its size and other associated from unrecognized CHD. Furthermore, with improved anomalies.3, 9, 16 prenatal detection of CHD and newborn screening for Congenital Heart Public Health Consortium Congenital Heart Defects: Know the facts 3 critical CHD, there is expected to be a decrease in the children ages 1-18 years, and 98.7% for adults.24 Operative number of infants with unrecognized CHD. Prior to the mortality includes (1) all deaths occurring during the advent of newborn screening for critical CHD, it was hospitalization in which the operation was performed, estimated that at least 280 infants with unrecognized even if after 30 days; and (2) all deaths occurring after critical CHD were discharged from the newborn nurseries discharge from the hospital, but before the end of the each year in the United States.18 Based on results from a thirtieth postoperative day.25 From 1988 to 2003, the study that examined the association of having a state in-hospital death rate for adults undergoing surgery policy for critical CHD screening and infant cardiac death, for CHD was shown to be significantly lower when the it is estimated that approximately 120 lives are saved each surgery was performed by pediatric vs. non-pediatric year via newborn screening for critical CHD.6 heart surgeons.26 How many people in the U.S. die each year from CHDs? How has mortality due to CHDs changed over time? From 1999 to 2006 there were 19.4 million deaths in the Mortality associated with several types of CHDs has United States. Of these, 41,494, or 0.21%, were related decreased among both children27 and adults,28 with to CHDs.19 more people living to adulthood and thereby increasing the prevalence of CHD among adults.29 Survival among How is a person’s lifespan affected by CHD? infants with critical CHD improved from 67% in the era 10 With improved treatment, people with CHDs are living from 1979-1993 to 82.5% in the era from 1994-2005. In longer, with over 85% of children born with CHDs living the United States, among those who were operated on into adulthood. Following guidelines for coordinated and between 1982 and 2003 who survived their first CHD continued care has been shown to decrease mortality surgery, mortality declined over time, but it remains and thus may improve lifespan, health, and quality of higher (8.3 times) than the general population and varies life.20, 21 However, studies have shown that individuals by severity of disease (35 times greater for single ventricle 30 with CHDs often fall out of appropriate care.
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