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Defect Information Defect Information Prevention Services Providers and Members About UBDN

Congenital Heart Defects

The term congenital heart defect means the condition was present in the infant before birth, resulting from abnormal development of the fetal heart and or blood vessels around the heart. Normally, the formation of the fetal heart and cardiovascular system occurs between the 3rd and 7th seek of gestation. About 10% of congenital heart defects occur as part of a known multiple malformation syndrome such as Marfan, Noonan, or Downs syndrome. Treatment and prognosis depend upon the particular type of lesion or defect. Some lesions may require little or no change in the patient's activities or lifestyle. Other more serous types of lesions may necessitate corrective surgery at a time deemed appropriate by the cardiologist or surgeon.

Why Is This Important?

Congenital heart defects are among the most common birth defects. Many affected children require medical and surgical treatment. Even after treatment, some children may be at increased risk of illness and death because of cardiovascular complications, rhythm abnormalities, or other long-term adverse events.

As treatment and support continually improves, increasing number of affected people live longer and healthier lives. Adolescents and adults that have been successfully treated now represent a growing group in the population and have specific healthcare needs.

Tracking congenital heart defects in Utah is crucial in assessing the impact of these common conditions, evaluating its causes, and helping to plan appropriately for the care of affected children and adults.

Burden of disease and medical costs associated with congenital heart defects are substantial. $1.2 billion is the estimated lifetime cost for US children born in a single year with one of four major heart defects (tetralogy of Fallot, transposition of the great arteries, single ventricle, truncus arteriosus) (Waitzman and collaborators, 1994)

How Are We Doing?

The Utah Birth Defects Network began tracking selected congenital heart defects (conotruncal and left obstructive heart defects) in 1997 and later expanded to include all major heart defects. This report is based on 1,418 affected births reported to Network from 1997 through 2003.

The Network reports that the overall rate of major congenital heart defects in 2003 in Utah was 0.6% (6.3 per 1,000), or 1 in 159 births. On average, approximately 300 affected babies or more are born every year in Utah.

Overall rates of major heart defects by race/ethnicity for birth year 2003 are shown in Figure 1. These rates are similar in the different ethnic groups. Some such rates are based on small numbers of affected babies and thus their confidence intervals are wide (Figure 1). For some groups such as Native Americans and African Americans the number of affected babies in 2003 were small (<10) and because the corresponding rates are statistically very unstable and not meaningful they are not shown.

Rates of selected common major heart defects are summarized in Figure 2. Time trends are shown in Table 3 for the major heart defects that have been tracked the longest by the Utah Birth Defects Network.

How Does Utah Compare With the U.S.?

Comparing rates among different areas requires caution as many aspects of the tracking programs in these areas can impact the reported rates. This is true generally for birth defects and particularly for heart defects, that require special examinations for diagnosis (eg, echocardiography) and that often are suspected or diagnosed well after the newborn period. Thus programs with varying access to pediatric cardiology data and with different follow up periods can vary in their ability to detect and register affected babies and can therefore generate apparently different rates of heart defects.

Moreover, the reported overall rate of heart defect also depends on inclusion criteria. Because many minor or mild conditions (eg, muscular ventricular septal defects, patent ductus arteriosus, patent foramen ovale) are quite frequent and are variably included in different tracking programs, their inclusion or exclusion can lead to considerable variations in reported rates.

It is therefore sensible to compare overall and specific rates among programs with similar methods of ascertainment and reporting. Comparisons are likely to be more meaningful for the more specific and severe heart defects, whose ascertainment and reporting are less likely to vary by much.

The overall rate of major heart defects in Utah (6.3 per 1,000) is comparable to that observed in the well-known Baltimore Washington Infant Study, where the rate varied between 4 and 8 per 1,000 depending on time and inclusion criteria. The rate in Utah is lower than that reported in the Atlanta registry, managed by the Centers for Disease Control and Prevention, whose methods of ascertainment are similar to those in Utah Birth Defects Network. The lower rate in Utah is likely due to the use of more restrictive reporting criteria, such as the exclusion from rate computations of common mild heart conditions (see above for definition of numerator). For specific, severe heart defects such as tetralogy of Fallot, d-transposition of the great arteries, and hypoplastic left heart, observed rates in Utah are comparable to those observed in Metropolitan Atlanta and in the Baltimore Washington Infant Study.

What Is Being Done?

The Utah Birth Defects Network (UBDN) currently is tracking rates of congenital heart defects, evaluates their reported origin and time/space clustering, and, more recently, is involved in studies of causation with the goal of finding strategies for primary prevention.

Specific services for families of affected children from birth to three years of age are provided by the Utah Early Intervention Program, located within the Bureau of Children with Special Health Care Needs, Utah Department of Health. Services include child health assessment, service coordination among providers, programs and agencies, occupational and physical therapy, speech and language therapy. Information on these services is available at http://www.utahbabywatch.org

A further resource is the Utah Collaborative Medical Home, which is a project designed to provide information, tools and resources for Primary Care Physicians to enhance their ability to care for children with special health care needs. Information on the Utah Collaborative Medical Home is available at their web site: http://www.medhomeportal.org


  • Overall CHD rate and by ethnic/racial groups
    • Latest data 2003 that includes perimembranous ventricular septal defects
  • Rate of selected heart defects
    • Pooled 1997-2003 data
  • Rate of select heart defects, by year
    • 1997-2003