About Congenital Heart Disease

Birth defects affect as many as 6 - 9 of every 100 live-born infants.  The most common birth defect is congenital heart disease (CHD).

In the CHD community, the phrase "1 in 100" is commonly used.  While this is not inaccurate, this number includes all children with heart defects, including those that are largely asymptomatic and may not require any treatment.  Perhaps a quarter of all babies with CHD have "critical congenital heart disease," meaning that their defect is life threatening and will require correction within the first year of life.  Critical CHD is the number one cause of birth defect-related death worldwide.  

Funding for CHD research is appallingly inadequate.  Although twice as many children are affected by CHD than pediatric cancer, funding allocated for CHD research is a fraction of that provided for childhood cancer research.  The US government provides minimal funding for CHD research, only a fraction of a penny for every dollar spent on medical research.  Even the American Heart Association neglects it smallest, most innocent patients: about 1 cent of every donated dollar supports pediatric cardiology CHD research.

Fewer than 1/3 of babies with CHD are diagnosed on prenatal ultrasound.  This means the majority are born with undiagnosed heart defects, which may be life threatening.  Like so many other families, although we had access to excellent prenatal care, Angeline's heart defect was not diagnosed.  Because of a lack of standardized screening in hospitals, infants affected by CHD are sometimes discharged home from the hospital without the diagnosis being made.  Tragically, some undiagnosed infants rapidly develop failure and die at home.  A great many more infants return to their local pediatrician or the ER with symptomatic CHD, accompanied by increased complications and risk of death.

In the spring of 2012, I joined other parent advocates and volunteers in Sacramento, California to promote AB 1731, the bill sponsored by March of Dimes.  We are thrilled that this bill has become law, and as of July 1, 2013, every neonate born in California will undergo a simple and effective pulse oximetry screening protocol to help rule-out critical congenital heart disease prior to discharge.  The March of Dimes is advocating for similar bills in other states that do not currently require screening for CHD.

While mandatory screening of all babies for CHD is a monumental achievement, our community needs to advocate for improved prenatal diagnosis, which will greatly improve the chance that babies with CHD are delivered in appropriate hospital settings equipped with the medical professionals and resources needed to save their lives.  This will become the new frontier for our efforts.