04:50am Tuesday 12 December 2017

Congenital Heart Defects Often Missed Prenatally and After Birth

Joel Brenner, M.D., leads Hopkins Children’s cardiology division.

Brenner-detailWhile 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, cardiologists say.

February is Heart Disease Awareness Month, Gov. Martin O’Malley has declared Feb. 7 – Feb. 14 Congenital Heart Disease Awareness Week in Maryland, and pediatric cardiologists at Hopkins Children’s and elsewhere remind parents to be on the lookout 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 percent 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, M.D., 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 says, because a symptomless heart defect can still cause progressive and insidious heart damage.

Such was the case of Julia Hansen, of Westminster, now almost 6. Julia had no symptoms, and her 2006 diagnosis was a fortuitous byproduct of a fall that landed her in the emergency department (ED) when she was 1 year old. The ED physician who examined Julia for a possible dislocated shoulder commented on a heart murmur he picked up during the exam, advising her parents to mention it to their pediatrician. Julia was referred to Hopkins Children’s where an EKG and a heart ultrasound revealed she had atrial septal defect, a hole between the two upper chambers of the heart. The surgeon who subsequently repaired Julia’s heart told her parents that their daughter’s heart had become significantly enlarged because of the extra blood flow to the right side of the heart caused by the defect.

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.

Hopkins Children’s has a program dedicated solely to the treatment of adults with congenital heart disease led by Jane Crosson and Richard Ringel.


Considered the birthplace of pediatric cardiology, Hopkins Children’s Division of Pediatric Cardiology specializes in the diagnosis and treatment of children with heart disease, providing full cardiac catheterization services; full cardiac surgery services, with support from the only pediatric ECMO (extra-corporeal membrane oxygenation) facility in Maryland; expertise in genetic cardiac diseases; non-invasive testing (echocardiography including fetal testing, and magnetic resonance imaging); and evaluation and treatment of children and families with lipid disorders. For more information, www.hopkinschildrens.org/cardiology

Founded in 1912 as the children’s hospital of the Johns Hopkins Medical Institutions, the Johns Hopkins Children’s Center offers one of the most comprehensive pediatric medical programs in the country, with more than 92,000 patient visits and nearly 9,000 admissions each year. Hopkins Children’s is consistently ranked among the top children’s hospitals in the nation. Hopkins Children’s is Maryland’s largest children’s hospital and the only state-designated Trauma Service and Burn Unit for pediatric patients. It has recognized Centers of Excellence in dozens of pediatric subspecialties, including allergy, cardiology, cystic fibrosis, gastroenterology, nephrology, neurology, neurosurgery, oncology, pulmonary, and transplant. Hopkins Children’s will celebrate its 100th anniversary and move to a new home in 2012. For more information, please visit www.hopkinschildrens.org
MEDIA CONTACT: Ekaterina Pesheva
EMAIL: epeshev1@jhmi.edu
PHONE: (410) 516-4996


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