Congenital Heart Disease: Timing Is Everything


PITTSBURGH, Pa. (Ivanhoe Newswire)— Congenital heart disease, or CHD, is actually a group of diseases affecting the heart chambers, valves, or arteries near the heart. Some are so mild they may be overlooked. But researchers say timing may be everything when it comes to diagnosis and treatment.

In most states, babies are screened for congenital heart defects, but sometimes, CHD doesn’t show up right away.

“Some things do not become significant in terms of a patient having symptoms, until they’re older and things progress over time as their body grows,” Tiffany Brazile, MD, an internal medicine resident and researcher at the University of Pittsburgh School of Medicine, told Ivanhoe.

(Read Full Interview)

The most severe cases of CHD are often detected early, and require surgery, but mild defects, like a small hole in the heart, may be overlooked, since they have symptoms that are similar to other conditions, like asthma.

Dr. Brazile shared, “One of the most common symptoms is feeling shortness of breath, sometimes at rest, but more common with physical exertion.”

Dr. Brazile and fellow researchers have found that adult patients who are diagnosed with pulmonary hypertension or high blood pressure in the lungs may have a congenital heart defect that has gone undetected for years.

“It’s very important to always consider whether or not there’s a congenital heart disease that might be underlying another heart condition since it can manifest in other ways. And as patients get older, it might be something that’s not in the back of a patient or in some clinician’s mind,” Dr. Brazile exclaimed.

Dr. Brazile says delayed diagnosis of CHD can lead to serious complications, like pulmonary hypertension or heart failure, making it important for doctors to test for CHD regardless of a patient’s age.

The researchers say the screening tests for pulmonary hypertension and congenital heart disease are different, so a doctor testing for pulmonary hypertension wouldn’t automatically discover the CHD. The researchers presented the new information at the American Conference of Cardiology in May.

Contributors to this news report include: Cyndy McGrath, Producer; Kirk Manson, Videographer; Roque Correa, Editor.

To receive a free weekly e-mail on medical breakthroughs from Ivanhoe, sign up at:





REPORT:       MB #4951

BACKGROUND: Congenital heart disease is a defect in the structural anatomy of the heart. It may affect the heart valves or some areas of the heart that didn’t form properly.  Congenital heart disease, also called congenital heart defect, can change the way blood flows through your heart. Some congenital heart defects might not cause any problems. Complex defects, however, can cause life-threatening complications. Advances in diagnosis and treatment have allowed babies with congenital heart disease to survive well into adulthood. Sometimes, signs and symptoms of congenital heart disease aren’t seen until you’re an adult.


SYMPTOMS: One of the most common symptoms is feeling short of breath sometimes at rest but more commonly with physical exertion. This can often be mistaken as asthma or some other form of lung disease, particularly if somebody is a smoker or has severe allergies or has a family history of other lung problems. Another common presentation is that somebody feels lightheaded and like they’re going to pass out. Because they are very nonspecific symptoms, all of the different conditions doctors might consider in an evaluation for a patient can be quite large.


NEW RESEARCH: Pulmonary hypertension can be caused by multiple things, some dealing with the heart and some with the lungs. In a patient, particularly patients who are on the younger side, it’s always important to consider whether they do have congenital heart disease that was missed earlier in life because they weren’t having symptoms yet.

“Sometimes on a physical exam when somebody is younger, doctors might hear a heart murmur or might hear some difference in their blood flow. That gives a clue is there something we might want to investigate and monitor over time. I think it’s really important to consider those aspects in caring for patients to make sure that we’re doing what we can to ensure that we are trying to limit these adverse effects when a diagnosis is delayed and therefore treatment is delayed,” said Tiffany Brazile, MD.

(Source: Tiffany Brazile, MD, Internal medicine resident and researcher, post-doctoral associate, University of Pittsburgh School of Medicine)





If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at

Doctor Q and A

Read the entire Doctor Q&A for Tiffany Brazile, MD, Human Internal Medicine Resident, Post-Doctoral Associate

Read the entire Q&A