Associated noncardiac congenital anomalies among cases with congenital heart defects

Abstract

Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

Introduction

Studies of other defects associated with specific congenital anomalies may be helpful to understand embryonic development, identify the causes of congenital anomalies, determine recurrence risks, and guide expectations for the efficacy of prevention strategies [Stevenson et al., 2004]. Congenital heart defects are one of the most common congenital anomaly, representing approximately 45% of all prenatally diagnosed anomalies [Stoll et al., 2001] with a reported rate per 10,000 live births or total births varying from 43 to 124 [Lowry et al., 2013]. CHD occur in as many as 1 in 100 live births and in 1 in 500 fetal ultrasonographic examination [Meberg et al., 2007, Tegnander et al., 2006]. Many cases with CHD will have a coexisting defect involving noncardiac structures. Individual cases of CHD may differ widely in their cause. Specific genetic factors, such as chromosomal abnormalities and inherited mutations in developmental genes, or environmental influences on fetal development i.e. medications [Stoll et al., 1989] may form the underlying cause.

Although it has long been known that CHD are frequently associated with other congenital anomalies, their reported frequency and the type of associated anomalies observed vary considerably among different studies. Using data from our surveillance system of congenital anomalies over a 26-year period, we evaluated the nature and frequency of anomalies associated with CHD to identify recognizable conditions and specific patterns of associated anomalies, which could give hints about the pathogenesis of CHD.