Congenital Heart Defects Often Missed Prenatally and After Birth

Each year, some 40,000 infants in the US and 1 million worldwide are born with structural heart defects including tetralogy of Fallot, coarctation of the aorta, atrial septal defect, and transposition of the great vessels, among others.

While some heart defects are detected before birth during fetal ultrasounds and some shortly after, many children are not diagnosed until they are several months or several years old and damage caused by the defect leads to detectable symptoms. In rare cases, the heart defect can go undiagnosed until patients are in their 20s or 30s.

In recognition of Heart Disease Awareness Month, pediatric cardiologists at Johns Hopkins Children’s Center and elsewhere are urging parents to look out for subtle but highly suggestive signs, including fast or labored breathing during rest, shortness of breath, fatigue that comes on easily with routine activities, irritability, and bluish or pale skin color.

Parental watchfulness is critical in helping physicians make a timely diagnosis, experts say, because fetal ultrasounds are notoriously unreliable, picking up less than 20% of all heart defects—typically ones that cause a discrepancy in the size of the heart’s four chambers, making them the easiest to spot. And many newborns and infants with heart defects may have subtle signs or no signs of heart disease until later in life, further delaying their diagnosis and treatment.

“Congenital heart defects are the most common birth defects, and timely diagnosis can mean the difference between life and death in the most severe cases,” said cardiologist Joel Brenner, MD, chief of pediatric cardiology at Johns Hopkins Children’s Center.

Even babies with less serious heart defects who don’t need life-saving surgery immediately after birth benefit tremendously from early diagnosis, Brenner said, because a symptomless heart defect can still cause progressive and insidious heart damage.

Classic signs of heart disease in infants include fatigue and/or sweating around the head during feeding, slow growth, fast breathing when at rest or asleep, irritability and bluish or pale skin color. Older children may complain of heart palpitations and dizziness, have difficulty keeping up with playmates and get easily out of breath with physical activity.

The treatment of congenital heart defects has improved greatly in the last several decades, allowing many children born with them to grow into healthy adults leading normal or nearly normal lives.

Source: Johns Hopkins Children’s Center