Critical Congenital Heart Disease Screening -Infant

Summary of Recommendation and Evidence

Population	Recommendation	Grade (What's This?)
Screening of both Genders	The congenital screening for Congenital adrenal hyperplasia is recommended.	B

OVERVIEW

Critical congenital heart disease (CCHD) refers to a group of heart defects that are life threatening and require catheter-based intervention or heart surgery during the neonatal period. Newborns with CCHD may be missed because of minimal signs and symptoms early on, but can quickly decompensate when the ductus arteriosus, which may have been providing significant blood flow to the lungs or body, closes. Some of these newborns will have hypoxemia, which may be difficult to detect clinically in babies. Pulse oximetry can accurately identify many apparently asymptomatic cases of CCHD by detecting lower oxygen saturations. Early detection allows for timely treatment. Delayed diagnosis of CCHD may result in poorer preoperative condition, worse cardiopulmonary and neurological outcomes after treatment, or death.

The 7 primary targets for CCHD newborn screening are:

Truncus arteriosus
Transposition of the great arteries
Tetralogy of Fallot
Pulmonary atresia with intact ventricular septum
Tricuspid atresia
Hypoplastic left heart syndrome
Total anomalous pulmonary venous return

SCREENING

Finding

Low oxygen saturation

Tested By

Pulse oximetry

PREVALENCE

Congenital heart defects occur in about 1:110 live births; CCHD occurs in 15-25% of these births.

INHERITANCE

CCHD is inherited in an autosomal recessive manner. It affects both boys and girls equally.

MATERNAL & FAMILY HISTORY

Although recurrence risk varies among types of CCHD, approximately 1:9 cases are familial. Generally, the recurrence risk increases if a parent rather than a sibling is affected, particularly when the affected parent is the mother. Individualized recurrence risks can be generated for members of families affected by CHD after obtaining a detailed family history, including accurate cardiac diagnoses for all affected members, and diagnostic genetic testing where indicated.

PRENATAL TESTING

Expanded recommendations for prenatal screening of fetal hearts and evolution in fetal echocardiography have helped increase early detection of CCHD, but the prenatal rate of detection is still under 50%.

OTHER TESTING

Testing for noncardiac causes of hypoxemia (e.g., infectious or pulmonary disease) are appropriate.

CLINICAL CHARACTERISTICS

Presentation of CCHD can be sudden and catastrophic. Timing often corresponds with the closing of the ductus arteriosus and physiologic changes in the heart after birth. Signs and symptoms of CCHD in infants can be varied and may include:

Cyanosis (a bluish tint to the skin, lips, and fingernails)
Shock
Severe hypoxemia
Absent pulses
Tachypnea
Pulmonary edema
Shortness of breath or troubled breathing
Sweating around the head
Poor weight gain
Tiring easily during feedings

These findings are not always evident before hospital discharge, especially if discharge occurs before 48 hours of life. A number of children with CCHD are so severely compromised at presentation that they die before surgical intervention. A pediatric cardiologist should be consulted urgently when CHD is suspected in neonates who present with shock, cyanosis, or pulmonary edema.

EARLY SIGNS

Signs of critical congenital heart disease in infants include:

Loss of healthy skin color
Cyanosis (a bluish tint to the skin, lips, and fingernails)
Rapid or troubled breathing
Swelling or puffiness in the face, hands, feet, legs, or areas around the eyes
Shortness of breath or tires easily during feedings
Sweating around the head, especially during feeding
Poor weight gain

CAUSES

The causes of critical congenital heart disease (CCHD) among most babies are unknown. Genetic and environmental factors appear to play roles and studies into causes are continuing.

Approximately 10% of babies with heart defects have these conditions because of changes in their genes or chromosomes. Scientists have identified 10 gene mutations, or changes, not involved with other birth defects that can impact congenital heart defects. Babies who are found to have CCHD may be evaluated by a clinical geneticist. This could help identify genetic syndromes associated with CCHDs. Some of the genetic conditions that are common in children with CCHD include Noonan syndrome, velecardiofacial syndrome, Down syndrome, and Turner syndrome. Not all children who have CCHD will also have a genetic condition.

Environmental factors, such as drugs, illnesses, or chemicals, that a pregnant women is exposed to during pregnancy can affect how the baby’s heart develops. Some examples include infection with Rubella (German Measles), smoking, maternal obesity, maternal diabetes, and use of Accutane (taken to treat acne), Dilantin (used to treat seizures) or cocaine. Exposure to certain substances in the environments, such as paints, chemical solvent, and pesticides can contribute to congenital heart defects.

TREATMENT

Treatment for critical congenital heart disease (CCHD) depends on the type of heart defect present. If a CCHD is detected, you will meet with a pediatric cardiologist to talk about the findings and treatment options. Most heart defects can be corrected or improved with surgery, procedures and/or medications. The following are a few of the more common treatments used.

Catheter Procedures

Catheter procedures are easier and less invasive than surgery. This procedure involves threading a long tube, called a catheter, through the blood vessels to the heart. This allows the doctor to take measurements and repair the problem in the heart. Catheter procedures are used to repair simple heart defects, and the process varies with each defect.

Surgery

Surgery may be necessary if the heart defect cannot be fixed using catheter procedures. Sometimes one surgery is enough to repair the defect, but occasionally several surgeries are needed to fix the problem. Cardiac surgeons can use surgery to close holes in the heart, repair heart valves, widen arteries or openings to the heart valves, and repair other complex defects.

EXPECTED OUTCOMES

With early detection and treatment, infants affected with critical congenital heart disease (CCHD) can live longer and healthier lives. Most people affected with CCHD do need routine checkups to stay as healthy as possible. Some people affected with CCHD may have additional genetic problems, which may require treatment.

Babies affected with CCHD are at significant risk of disability or death if their CCHD is not diagnosed soon after birth.