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Boys with hypospadias were several times more likely to also have congenital heart disease compared with peers without the urethral birth defect, a cohort study showed.

Active surveillance programs in Texas and Arkansas revealed that 5.5% to 7.0% of boys born with hypospadias had a co-occurring congenital heart defect (CHD). Boys with hypospadias were 5.8 times (95% CI 5.5-6.1) more likely to have a co-occurring CHD compared with boys without hypospadias, according to Wendy Nembhard, PhD, MPH, of the University of Arkansas for Medical Sciences in Little Rock, and colleagues.

Heart defects critical and non-critical alike were more prevalent among individuals with hypospadias:

• Coarctation of the aorta: 7.5 times more prevalent (95% CI 6.2-9.2)

• Tetralogy of Fallot: 9.3 times (95% CI 7.4-11.7)

• Transposition of the great vessels: 6.3 times (95% CI 5.0-7.9)

• Atrioventricular septal defects: 5.9 times (95% CI 4.4-7.7)

• Congenital mitral stenosis: 6.7 times (95% CI 5.1-8.7)

• Aortic valve stenosis: 5.8 times (95% CI 4.2-7.9)

These associations occurred outside of chromosomal anomalies and were validated using data from nine other states participating in the National Birth Defects Prevention Network, the researchers reported in .

"The high prevalence of co-occurring CHDs in this cohort study suggests that hypospadias may not be an isolated defect and that additional birth defect screening among boys born with hypospadias is warranted," the team wrote.

"The ability to characterize molecular alterations associated with the development of both hypospadias and CHDs may lead to targeted prevention strategies and improved counseling for these relatively common and medically significant birth defects," the investigators continued.

Hypospadias is a birth defect of the male urinary tract resulting in displacement of the urethral opening to various degrees. Affecting 1 out of every 200 babies, it is one of the most common birth defects in the U.S., .

Laurence Baskin, MD, chief of pediatric urology at UCSF Benioff Children's Hospitals in San Francisco, commented to MedPage Today that he agrees that there tend to be some serious cardiac defects in babies with hypospadias. If the newborn exam leaves any question of a heart abnormality, a heart echocardiogram would be helpful, he said.

Despite mounting evidence for the co-occurrence of hypospadias and CHDs, there are no recommended additional screenings for boys diagnosed with hypospadias, regardless of severity.

Nembhard and colleagues noted that the prenatal sonography and newborn pulse oximetry currently used to detect critical CHDs have limited sensitivity and positive predictive values and often fail to detect noncritical CHDs.

Indeed, minor heart defects had not been logged in the registries used in the analysis.

"[M]inor and noncritical CHDs may go undiagnosed early in life, yet they may become symptomatic as the individual ages, so it is important to evaluate whether these defects are also more likely to co-occur with hypospadias," the investigators urged.

Their retrospective cohort study was based on birth defect surveillance data spanning 1995 to 2014 in 11 states.

In the primary analysis of 3.7 million pregnancies in Texas and Arkansas, there were 1,485 boys identified as having hypospadias and a co-occurring heart defect.

Greater hypospadias severity and Hispanic maternal race were associated with a greater likelihood of co-occurrence.

"Disparities in outcomes for select CHDs disproportionately affect Hispanic individuals, so it is important to identify vulnerable populations that could benefit from enhanced screening and surveillance of co-occurring conditions," Nembhard's group said.

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