1in100

Published in the journal Pediatrics: Endorsed by the American Academy of Pediatrics, the American Heart Association and the American College of Cardiology, a federal advisory panel recommends nationwide screening for critical congenital heart disease using pulse oximetry, a probe placed on a hand and a foot that uses a light source and sensor to measure oxygen in the blood. Low oxygen levels signal the need for further testing to look for a heart-related problem.

View the report here: Newborn Screening for Heart Defects Using Pulse Oximetry Recommended

There are few words to describe the excitement.  Thinking back to Eve’s Impact, her diagnosis and surgeries – and on to that day in the fall of 2009, when the team in Minnesota agreed to pursue a pilot project, to discussing a federal nomination with the committee member, to providing comments to the federal advisory committee and participating in this federal workgroup that yielded this report..it’s been a whirlwind.  Now, all this news coverage in the past 24 hours.  It’s clear the time has come to use all the tools available to support the early detection of heart defects in newborns.

http://www.cbsnews.com/video/watch/?id=7377689n&tag=mg;earlyshow

http://articles.latimes.com/2011/aug/21/health/la-he-heart-screening-20110822

http://www.webmd.com/parenting/baby/news/20110819/blood-oxygen-test-finds-heart-defects-in-newborns

http://www.medscape.com/viewarticle/748382

http://www.baltimoresun.com/health/boostershots/la-he-heart-screening-20110822,0,1119997.story

http://seattletimes.nwsource.com/html/health/2015978538_webheart22.html

http://www.smartplanet.com/blog/rethinking-healthcare/could-a-new-screening-help-identify-heart-problems-for-newborns/6335

http://health.usnews.com/health-news/family-health/heart/articles/2011/08/22/steps-outlined-to-screen-all-newborns-for-heart-defects

http://blogs.wsj.com/health/2011/08/22/screening-newborns-for-congenital-heart-disease/?mod=WSJBlog

June 29, 2011

The Honorable Kathleen Sebelius
Secretary, U.S. Department of Health and Human Services
200 Independence Avenue, SW
Washington, DC 20201
RE: Recommendation for Newborn Screening for Critical Congenital Heart Disease

Secretary Sebelius,

Please accept this note of thanks again for your diligence – and that of your committees – in evaluating the recommendation of newborn screening for critical congenital heart disease.  While many do not have the capacity to lobby directly on issues such as this, I hope that is not misinterpreted as a lack of intense interest or advocacy.

If you aren’t yet aware, something in the neighborhood of 40 states now have grassroots online community pages focused on implementing routine pulse oximetry screening for newborns.  The recent movement of New Jersey, Maryland and other states toward this standard of care has started a significant state-by-state groundswell of support.  Many providers, payers and policy leaders have been hopeful that the federal guidance surrounding this important screening would happen in a timely fashion – giving states a leg up in their own implementation efforts.

As I write this, Minnesota (with a strong, aggressive pilot program) is starting to screen 15,000 babies this year.  New Jersey is poised to act on its legislative mandate – but without any clear guidance or standard protocol to assist.  We’ve shared our Minnesota protocol and educational materials, and will continue to do so with any healthcare institution, system or public health department that asks.  But the point is, there are hospitals and states eager to adopt this standard, prove its efficacy, and strip away the few remaining uncertainties that can only be answered through real-world implementation.

Right now, babies are getting discharged from hospitals every day with a hidden disease that could take their lives.  At best, the missed diagnosis of newborns with CCHD results in surgical compromise, neurological impairment, developmental delay, organ failure, and long-term feeding issues…all at huge costs to the healthcare system.

We all know pulse oximetry is considered the 5th vital sign. It’s routinely done on any adult with the slightest ailment or injury.  But somehow babies, who just ventured into this world and are breathing oxygen for the first time ever, should not have a pulse ox check before discharge?  Even if you take screening for CCHD out of the equation, this is a standard of care that is long overdue in the newborn nursery.

Physicians, hospitals and advocates clearly understand the importance of early detection of newborn diseases and disorders in saving lives and reducing healthcare cost burdens associated with late diagnosis.  It’s also a huge issue for our rural and underserved populations – who will continue to fall through the cracks if this simple point of care evaluation does not become a standard of care.  I have included a spreadsheet with just a small, but recent, survey of families impacted by CCHD (1in100_Informal Survey Responses_0111).  I am just one mother – and that fact that I personally know every family responding speaks volumes as to the need for this simple point of care screening.  In addition, I got this note just yesterday:

My baby went 4 and half weeks undiagnosed despite our complaints of poor eating, and breathing strangely! He saw 4 different pediatricians, after the two he saw in the hospital and no one    bothered with a pulse ox because I was a first time, very tired mother. He nearly died in our arms 3 days after his one-month check up! Inexcusable!!! What is the extra expense of babies like Gunner who then was so critical required a life flight and weeks of life support? Had the defect been caught initially, our entire family could have endured less trauma. Thank God we still have him and he is healthy, that is ONLY because of God’s grace. I know there are too many others who are not so lucky. ~Dana

I am confident that the work of the ICC (Interagency Coordinating Committee) will provide you an “action plan” that addresses your concerns and fills in the stated infrastructure gaps. In the 90 days allotted for this task, 1,000 additional babies will have died from Congenital Heart Disease.  The situation is grave.  The #1 cause of death in infancy in the U.S. is congenital anomalies, and the #1 cause of death from anomalies is congenital heart disease. Secretary, on behalf of my daughter Eve and 40,000 babies born each year with heart defects, I urge you to leverage your leadership and expertise in public health to advance this recommendation to the benefit of newborns throughout the United States.

With appreciation,

Annamarie Saarinen, 1in100

cc: Senator Amy Klobuchar
Congresswoman Betty McCollum

annamarie@1in100.org
Know More. Do More. Facebook.com/1in100
newborncoalition.org

http://cchdscreeningmap.com/

The Department of Health and Human Services just held a stakeholder call to update on the status of the recommendation to screening newborns for CCHD with pulse oximetry. Given the 5 recommendations related to this screening, the Secretary has found several items she would like to have further clarification on to move forward with the screening (see the original recommendation letter here). 

It was clearly stated that the Secretary recognizes the critical importance of CCHD, and has requested further efforts be undertaken immediately to work through the issues surrounding the pulse ox technology itself, follow up diagnostics, service infrastructure, and education. The Newborn Screening Saves Lives Act (of 2007) required the formation of a supplemental Interagency Coordinating Committee on Newborn and Child Screening issues. This committee includes directors of the CDD, HRSA, NIH and AHRQ. The committee has been IMMEDIATELY tasked with reviewing the original SACHDNC five recommendations, any gap areas, and the document produced from the Implementation Workgroup – their goal is to close the gaps. It is the committee’s first order of business…and they have 90 DAYS to provide a plan of action.

Here’s what I know. Without the outreach all of you did, sharing your support and personal stories, this important secondary advisory committee step wouldn’t be happening. This was going down the road of being an averted recommendation. Now it’s not.

So while we might not have the green light quite yet, the motor is running and the car is in gear. Please accept my profound gratitude for all you continue to do to support early diagnosis of heart defects.

I can be honest here, with all of you. These last 10 days have been hard. a hundred hours of time, anxiety, nausea, all of it. My first reaction to the 90 day delay was this: in 90 days, 1,000 more babies will die – and realistically, 200-300 of them will be contributed to by late diagnosis.

But I also realize there is solid intent on the part of the federal stakeholders to get this right. In that spirit,  let’s support this effort, continue the work already being done, and look forward to widespread implementation of newborn screening for CCHD.   #1in100

Surreal Day Part 1: Today marks Eve’s 2-year rebirthday.  April 13, 2009, Dr. del Nido and his team stopped our 4 month old baby’s heart for 6 hours, repaired it, and started it again.

Surreal Day Part 2: Following some weird arrhythmia this week, I canceled my DC trip and headed in for morning echocardiograms, EKGs and evaluations for a very crabby 2-year-old (needless to say, these exams don’t exactly get easier past infancy) at U of M Amplatz Children’s, (where Eve spent 4 months of her life in as a newborn). Results were awesome – echo and EKG looked great…just keeping an eye on the heart rate moving forward.

Surreal Day Part 3: Then it was off to Fairview Southdale Hospital in afternoon for a late day in-service training session on pulse oximetry screening for heart defects.  This was attended by administration and newborn nursery directors from 5 large hospitals.  The Minnesota rollout continues.  Dr. Kochilas and Dr. Thompson presented screening protocols and educational materials. We also talked about health IT and how much easier this will get to report results over time.

This is also the hospital where I gave birth to Eve (and our other children) and where she was first diagnosed with heart failure.  Surreal.

Surreal Day – Part 4: It is coming down the wire.  On October 15, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children sent a letter to Secretary Sebelius recommending all newborns be screened for Critical Congenital Heart Disease using pulse oximetry.  She has 180 days to respond – which means until the end of this week.

Over the next 24 hours, it seems like a great idea to rally.  That means contacting the Secretary, and asking congressional members to reach out to the Secretary on the impending federal recommendation to screen all newborns for CCHD.  The next 24 hours are critical.  This is the path to saving lives.

Here’s what individuals, families and organizations can do, if possible.

1) Reach out to Secretary Sebelius at Health and Human Services to let her know of your support for screening for CCHD.

During business hours, call 202-690-7000.  After hours, there is VM comment line: 202-205-5445

Email your personalized letter/note to the Secretary at: Kathleen.Sebelius@hhs.gov

You can copy and paste your letter right into the email.  Use the subject line:  “Support Newborn Screening for CCHD”

2) Reach out to your members of Congress to share your support and ask them to weigh in directly with Secretary Sebelius.

Use this link – it’s quick and easy way to find your delegation, with emails and phone numbers:

http://www.contactingthecongress.org/

3) Email the appropriate version of these letters – one for Secretary Sebelius: Family letter_HHS_NBS CCHD

and one for a Congressional member:  Family letter_Congress_NBS CCHD

Or just use them for talking points if you are calling (or do both!)  You can customize however you’d like.  The more personal the better.

Here’s the background briefing we’ve been using with leadership as well.

4) Share with your contacts.  The online CHD community is powerful and beautiful thing.  When it mobilizes, it rocks.  If you need more, Cora’s mom has compiled one of the best online resources for pulse ox info at Cora’s Hopes and Dreams:

5) Let me know what you are hearing from your outreach at Facebook.com/1in100.  I suspect this is not on the radar of most elected officials – use it as an opportunity to make them aware of CHD and what can be done to save lives and improve outcomes through early diagnosis.

P.S. Since this is mission critical, I don’t have the time (or talent) to include the links to every online site and Facebook page that can help with this…but there are many.  Grateful for every single one.

…to routine pulse ox screening for every newborn. The federal advisory committee sent this letter to Secretary Sebelius on Tuesday.  Now the Implementation Workgroup has some serious work to do.  It’s been a wild ride, but improving early detection was 1in100′s first and most important priority from day one.  This has been an amazing milestone…

October 15, 2010

The Honorable Kathleen Sebelius
Secretary of Health and Human Services
200 Independence Avenue, S.W.
Washington, DC 20201

Dear Secretary Sebelius:

The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (the Committee) is charged with making systematic evidence-based and peer-reviewed recommendations that include the heritable disorders that have the potential to affect public health significantly, for which all newborns should be screened. Thus far, nine conditions have been sent to the Committee for consideration of an evidence review and for consideration for addition to the Committee’s Recommended Uniform Screening Panel. In May 2010, Severe Combined Immunodeficiency (SCID) was added to the panel. During the May 13-14, 2010 Committee meeting, the Committee voted to not recommend the addition of Hemoglobin H to the Panel. At the Committee’s most recent meeting on September 17, 2010, the Committee reviewed a final draft report of the evidence review for Critical Congenital Cyanotic Heart Disease and voted to add this disorder to the Panel.

Congenital Heart Disease is an overarching term describing a spectrum of clinical outcomes derived from any number of defects that are present in the structure of the heart at birth. Specific defects may involve the interior walls of the heart, valves inside the heart or the arteries and veins that carry blood to the heart or out to the body. These varied congenital defects change the normal flow of blood through the heart, leading to a range of conditions and symptoms. Congenital Heart Disease affects about 7 to 9 of every 1000 live births in the United States and Europe and is the most common cause of death in the first year of life, with defects accounting for 3% of all infant deaths and more than 40% of all deaths due to congenital malformations. Critical Congenital Heart Disease is a group of defects that cause severe and life-threatening symptoms and require intervention within the first days or first year of life.

Current methods for detecting Congenital Heart Disease generally include prenatal ultrasound screening and careful and repeated clinical examinations, both in the nursery and as part of routine well-child care. Critical Congenital Heart Disease is often missed during the routine clinical exam that generally is scheduled prior to a newborn’s discharge and many cases of Critical Congenital Cyanotic Heart Disease are missed by discharge and post-discharge clinical exams. A large epidemiological population-based study showed that 78% of cases with hypoplastic left heart syndrome (HLHS) were discharged from hospital before diagnosis. HLHS is universally fatal without surgical intervention, sometimes within the first days of life, and the vast majority of deaths in this patient population occur within the first months of life. Fetal ultrasound screening programs improve detection of major congenital heart defects; however, prenatal diagnosis alone picks up less than half of all cases.

Newborn screening using pulse oximetry for detecting Critical Congenital Cyanotic Heart Disease was examined by the Committee’s evidence review workgroup. Pulse oximetry is a method to augment current approaches (clinical exam and prenatal ultrasound) for the detection of Critical Congenital Cyanotic Heart Disease. Newborn screening using pulse oximetry is a test that occurs at the bedside (in the nursery or otherwise) similar to newborn screening for congenital hearing impairment. Pulse oximetry is a non-invasive test that estimates the percentage of hemoglobin in blood that is saturated with oxygen. While some types of Critical Congenital Heart Disease may present with hypoxemia, they do so only some of the time and are therefore less likely to be detected by pulse oximetry screening. Neonates with abnormal pulse oximetry screening results need confirmatory testing for the cause of the cyanosis, and immediate intervention. Virtually every hospital, even small ones, frequently uses pulse oximetry as a standard of care in their newborn nurseries.

When developing its recommendations to the Secretary, the Committee considers the nature of the science itself underlying the potential additions of the technology and the heritable conditions to the Committee’s Recommended Uniform Screening Panel as well as the public health implications of implementation. Although there are recognizable evidence gaps (for example, standardization of screening protocol) there are compelling reasons for recommending screening newborns for Critical Congenital Cyanotic Heart Disease.

The Committee therefore recommends the addition of Critical Congenital Cyanotic Heart Disease to the Committee’s Recommended Uniform Screening Panel with the understanding that the following activities will also take place in a timely manner:

1. The National Institutes of Health shall fund research activities to determine the relationships among the screening technology, diagnostic processes, care provided, and the health outcomes of affected newborns with Critical Congenital Cyanotic Heart Disease as a result of prospective newborn screening;

2. The Centers for Disease Control and Prevention shall fund surveillance activities to monitor the Critical Congenital Cyanotic Heart Disease link to infant mortality and other health outcomes;

3. The Health Resources and Services Administration shall guide the development of screening standards and infrastructure needed for the implementation of a public health approach to point of service screening for Critical Congenital Cyanotic Heart Disease; and

4. The Health Resources and Services Administration shall fund the development of, in collaboration with public health and health care professional organizations and families, appropriate education and training materials for families and public health and health care professionals relevant to the screening and treatment of Critical Congenital Cyanotic Heart Disease.

The Committee fully recognizes that the various Agencies within HHS determine and carry out their missions within their goals and the budgets which they have available.

Sincerely yours,

R. Rodney Howell, M.D.
Chairperson

http://www.hrsa.gov/heritabledisorderscommittee/correspondence/October15th2010letter.htm

Oh my.  Just got this today – we understand the newsletter also goes to pediatricians and cardiologist around the country.  So proud of our little Eve.  She has done some wonderful things in her short time here…thank you University of Minnesota Amplatz Children’s, Mayo Health System, Children’s Hospitals, Regions Hospital and Minnesota Department of Health for all you have done to make sure babies don’t go home with undiagnosed heart defects.  Rockstars.  All of you…

file:///Users/annamarie/Desktop/UMACH_CVHeartCenter_v5.pdf

The Internet Encyclopedia of Science has gathered what may be the most compact, yet comprehensive chunk of helpful info on congenital heart defects ever assembled.  It’s easy to read, easy to understand and provides a launching pad for those new to pediatric heart disease.  Know more.  Do more.

congenital heart defects

• Slow down
• Go in the wrong direction or to the wrong place
• Be blocked completely

Congenital heart defect is the most common type of major birth defect. Each year, more than 40,000 babies in the United States are born with congenital heart defects.

Types of congenital heart defects

There are many types of congenital heart defects. They include:

• Abnormal passages in the heart or between blood vessels
• Problems with the heart valves
• Problems with the placement or development of blood vessels near the heart
• Problems with development of the heart itself

Some of these problems are described below.

Abnormal passages in the heart or between blood vessels

• Atrial septal defect (ASD) is a hole in the wall that separates the upper chambers, or atria, of the heart. This causes blood to leak from one atrium to the other.
• Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers, or ventricles, of the heart. This causes blood to leak from one ventricle to the other.
• Atrioventricular septal defect (AVSD) includes an ASD, VSD, and abnormal development of the atrioventricular valves (tricuspid and mitral). This causes blood to flow abnormally inside the heart. An AVSD is also known as an atrioventricular canal defect.
• Patent ductus arteriosus (PDA) is a persistent connection between the aorta and the pulmonary artery. This connection is called the ductus arteriosus and is normally present before birth. In most babies, the vessel closes within a few hours or days after birth. In some children, the vessel fails to close, resulting in PDA.

Problems with the heart valves

Congenital heart defects can involve any of the valves and include the following types of problems:

• Stenosis. The valve opening is narrow and does not open completely.
• Atresia. The valve does not form, so there is no opening for blood to pass from one chamber to another.
• Regurgitation. The valve does not close completely, so blood can leak back through the valve.

Examples of particular heart valve problems include:

• Aortic valve stenosis is a narrowing of the aortic valve in the heart that causes it to open incompletely. This can reduce blood flow to the body.
• Pulmonary valve atresia is a defect in which a solid sheet of tissue forms in place of the pulmonary valve. This prevents blood in the right side of the heart from traveling normally to the lungs to pick up oxygen.
• Pulmonary valve stenosis is a narrowing of the pulmonary valve. The narrowing slows the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller opening.
• Tricuspid valve atresia is a defect in which a solid sheet of tissue forms in place of the tricuspid valve. Without the tricuspid valve, blood entering the right atrium cannot travel normally to the right ventricle and then to the lungs to pick up oxygen.
• Ebstein’s anomaly is a defect in which the tricuspid valve is both displaced and abnormally formed. The valve leaks and allows blood to flow back into the right atrium instead of to the lungs to pick up oxygen.

Problems with placement or development of blood vessels near the heart

• Transposition of the great vessels is a defect in which the location of the “great vessels” (the aorta and pulmonary artery) coming off the heart is switched. The aorta comes off the right ventricle instead of the left ventricle. The pulmonary artery comes off the left ventricle instead of the right ventricle. Therefore, blood without oxygen is continually pumped to the body, instead of blood with oxygen.
• Tetralogy of Fallot is a combination of four defects:
  • Pulmonary valve stenosis is the narrowing of the pulmonary valve. The narrowing slows the flow of blood from the right ventricle to the lungs.
  • VSD is a hole in the wall that separates the left and right ventricles.
  • Overriding aorta is a defect in which the aorta is positioned between the left and right ventricles, over the VSD.
  • Right ventricular hypertrophy is the thickening of the right ventricle. The thickening is caused by the heart having to work harder because of the other defects.
• Truncus arteriosus is a defect of the great vessels. The aorta and pulmonary artery do not form as separate arteries. Instead, a large artery, called the truncus, comes from the heart. As the truncus leaves the heart, it may branch into arteries that carry blood to the body and to the lungs.
• Coarctation of the aorta is a narrowing of the aorta. It slows or blocks the flow of blood from the heart to the body.
• Anomalous pulmonary venous return is a defect in which one or more of the four pulmonary veins, which normally return oxygen-rich blood from the lungs to the heart, return to the wrong chamber in the heart.

Problems with development of the heart

• Hypoplastic left heart syndrome is a combination of defects in which the left side of the heart does not develop properly. Defects usually include mitral atresia, aortic atresia, and a tiny left ventricle.
• Mitral atresia occurs when a solid sheet of tissue forms instead of the mitral valve, which separates the left atrium and the left ventricle.
• Aortic atresia occurs when a solid sheet of tissue forms instead of the aortic valve, which separates the left ventricle from the aorta.
• Single ventricle describes a group of heart defects in which only one ventricle is present instead of two. It can be a single right or a single left ventricle. The other ventricle is usually absent or very tiny. Hypoplastic left heart syndrome is an example of a single ventricle defect.

Today, the outlook for an infant born with a heart defect is much better than it was 30 years ago. Rapid advances in infant and childhood surgery, better tests, and new medicines help most children with congenital heart defects. Many children born with more complex or severe heart defects now reach adulthood. Today, there are more than 1 million adults living with congenital heart defects.

What causes congenital heart defects?

Doctors do not know what causes most cases of congenital heart defects. Heredity may play a role. In rare cases, more than one child in a family is born with a heart defect. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with the condition.

Babies who have certain other birth defects, such as Down’s syndrome, are also more likely to have congenital heart defects.

Other factors that raise the risk for congenital heart defects are:

• Having viral infections, such as German measles (rubella), during pregnancy
• Having diabetes
• Taking some types of prescription or over-the-counter medicines during pregnancy
• Being repeatedly exposed to some chemicals or X-rays during pregnancy
• Using alcohol or street drugs during pregnancy

Research continues to find the causes of congenital heart defects.

Signs and symptoms of congenital heart defects

The most common signs and symptoms of congenital heart defects are:

• A heart murmur
• A bluish tint to skin, lips, and fingernails (“blue baby”)
• Fast breathing
• Shortness of breath
• Poor feeding, especially in infants because they tire easily while nursing
• Poor weight gain in infants
• Tiring easily during exercise or activity (older children)

The signs and symptoms that a child has depend on:

• The number and types of defects
• The severity of the defect

Some infants and children have no signs or symptoms. Others have severe or life-threatening symptoms.

Many types of congenital heart defects cause the heart to work harder than it should. This stresses the heart and can lead to heart failure, causing the heart muscle to weaken and the heart to enlarge.

Diagnosis

Doctors usually diagnose congenital heart defects during pregnancy or within the first few months after birth. Some children with less severe defects are not diagnosed until they are older and more demands are put on their hearts. Others are not diagnosed until they are adults.

If your child’s doctor suspects a congenital heart defect, he or she will refer your child to a specialist who treats heart problems in children. The specialist, a pediatric cardiologist, will take a family and medical history, do a physical exam, and order several tests.

Physical exam

During the physical exam, the doctor:

• Listens to your child’s heart with a stethoscope for a heart murmur
• Looks for signs of illness or physical problems, such as bluish color of skin and lips, shortness of breath, rapid breathing, and delayed growth Listens to your child’s lungs

Tests

An echocardiogram, which is harmless and painless, uses sound waves to create a moving picture of your child’s heart. During an echocardiogram, reflected sound waves outline the heart’s structure completely. The test allows the doctor to clearly see any problem with the way the heart is formed or the way it’s working. An echocardiogram is the most important test available to your child’s cardiologist to both diagnose a heart problem and follow the problem over time. In children with congenital heart defects, an echocardiogram will outline each problem with the heart’s structure and show how the heart is reacting to these problems. The echocardiogram will help your child’s cardiologist to know if and when treatment is needed.

During pregnancy, if your doctor suspects that your baby has a congenital heart defect, a special test called a fetal echocardiogram can be done. This test uses sound waves to create a picture of the baby’s heart while the baby is still in the womb. The test is usually done during the fifth month of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born.

Other tests used to help diagnose congenital heart defects include:

• EKG (electrocardiogram). An EKG test measures the rate and regularity of your child’s heartbeat.

• Chest X-ray. A chest X-ray takes a picture of your child’s heart and lungs. It can show if the heart is enlarged or if there is fluid in the lungs.

• Pulse oximetry. This test uses a sensor to see how well your child’s lungs are passing oxygen to the blood and whether there is any mixing of oxygen-rich and oxygen-poor blood. The sensor is placed on the child’s fingertip or toe (like an adhesive bandage). A small computer unit shows the amount of oxygen in the blood through the skin. The test does not hurt.

• Cardiac catheterization. In this test, a thin flexible tube is passed through an artery or vein at the upper thigh (groin) or in the arm to reach the heart. With the assistance of X-rays, the doctor can then see your child’s blood vessels and heart. The catheter also measures the pressure inside the heart and blood vessels and can determine if blood is mixing between the two sides of the heart. Sometimes, a dye that can be seen by X-ray is injected into the heart. This enables the doctor to see the flow of blood throughout the heart and blood vessels.

Treatment

Doctors treat congenital heart defects with:

• Medicines
• Special procedures using catheters
• Surgery
• Heart transplants

The treatment your child receives depends on the type and severity of the defect. Other factors include your child’s age, size, and general health. Treatment can be simple or very complex. Many children are treated with medicines and are monitored by their doctor. Other children may need surgery.

Medicines

Your child may take one or more of the following medicines to help the heart work better and lessen symptoms: Digoxin is thought to improve heart function and can keep the heartbeat regular. Diuretics treat the buildup of fluid in the heart and body. ACE inhibitors decrease the work the heart has to do and may help remodel the heart and blood vessels to work more efficiently. Beta blockers slow the heart rate and lower blood pressure to decrease the workload on the heart. Inotropes strengthen the heart’s pumping ability. Prostaglandin E1 is used to keep the ductus arteriosus open in some defects until corrective surgery can be carried out. This improves blood flow and oxygen levels until the defect is corrected. The ductus arteriosus normally closes within a few days after birth.

Special procedures using catheters

Doctors can correct some congenital heart defects during cardiac catheterization. These are called catheter-based procedures or interventions. They can be used instead of open-heart surgery, which is a major operation. A catheter is inserted through a blood vessel in your child’s groin. It is then threaded to the heart, where some holes in the interior walls of the heart can be fixed, a patent ductus arteriosus can be closed, and narrow valves and blood vessels can be opened up. Cardiac catheterization:

• Does not require your child’s chest to be opened
• Lets your child recover quickly
• Has different risks than open-heart surgery

Surgery

Your child may need open-heart surgery if the defect can’t be repaired using a catheter-based procedure. Some surgeries repair the defect completely. Other surgeries improve the child’s health but do not completely repair the defect. Open-heart surgery may be done to:

• Close holes with stitches or with a patch
• Repair valves
• Widen arteries or openings to valves
• Put the great vessels (aorta and pulmonary artery) in their correct positions

Sometimes, open-heart surgery can improve a child’s health but not repair the problem. Examples include:

• Decreasing blood flow to the lungs by placing a band around the pulmonary artery
• Increasing blood flow to the lungs by connecting an artery from the aorta to the pulmonary artery
• Connecting the veins that bring oxygen-poor blood directly to the pulmonary artery in a three-stage surgery when the right ventricle is not developed (for example, hypoplastic left heart syndrome)

Heart transplants

Babies born with multiple defects that are too complex to repair may need a heart transplant. In this procedure, the child’s heart is replaced with a healthy heart that has been donated.

How can congenital heart defects be prevented?

There is no known way to prevent congenital heart defects, but there are things you can do to lower the chance that your baby will have a congenital heart defect. However, even after you lower the risks, your baby may still develop a congenital heart defect.

If you are planning to become pregnant or are pregnant, talk to your doctor about any medicines that you are taking, including:

• Over-the-counter medicines
• Prescription medicines
• Vitamin and mineral supplements
• Herbal supplements

Your doctor will recommend that you take folate before you become pregnant. This is recommended mainly to prevent abnormalities in the baby’s nervous system, and there is some evidence that it may also help prevent certain types of congenital heart defects.

You should avoid:

• Strong chemicals, including some cleaning products
• Repeated exposure to X-rays
• Any harmful or poisonous materials.

If you or anyone in your family has congenital heart disease, genetic testing may be available. This may show a genetic cause for congenital heart disease. Testing cannot prevent congenital heart disease, but may be able to make you aware of the risks.

Living with a congenital heart defect

With new advances in testing and treatment, most children with congenital heart defects grow into adulthood and live productive lives. Some continue to need specialized care for survival and to maintain a good quality of life. Some may need multiple procedures, including cardiac catheterizations and surgeries. Others may need pacemakers to help their hearts beat properly.

Parents

Mothers of children born with a heart defect often think that they did something wrong during pregnancy to cause the problem. The cause of most cases of congenital heart defects is unknown. It is important that mothers know that they did not cause their child’s illness.

Most children with congenital heart defects grow up to a healthy adulthood. Only children with complex heart defects may continue to need special medical attention into adulthood.

Treatment and care for your child may be costly. The cost of surgery and hospital stays is very high. Your health insurance may not pay for everything. Some parents may need help in paying medical bills. You can get information from your doctor and hospital about how to apply for financial aid.

It is important to keep your health insurance current. If you change jobs, make sure that the new health insurance will cover your child who has a congenital heart defect. Some health insurance plans may not cover some medical conditions that you or your covered family member had before joining the new plan.

It is also very important for your child to have health insurance as adulthood approaches. Review your current health insurance plan. Find out how coverage can be extended to your child beyond the age of 18. Some policies may allow you to keep your child on your plan if he or she remains in school or is disabled.

Caring for a child with a serious heart problem can be demanding. If both parents work, one of them may have to quit and stay home with the child if suitable day care can’t be found. The drain on energy, emotions, and finances can be very stressful. Ask your child’s doctor about support groups and other types of support in your area. Seek counseling if the stress is overwhelming.

General issues

It is important for your child to have ongoing regular medical care. This includes:

• Following up with your child’s heart specialist as directed
• Following up with your child’s pediatrician or family doctor for routine exams
• Taking medicines as prescribed

You may consider having your child wear a medical alert bracelet or necklace. This tells anyone caring for your child that your child has a congenital heart defect.

Adults, teenagers, and children should have routine dental care to prevent infections of the mouth. Most people with congenital heart defects need to take antibiotics before a dental procedure, treatment, or cleaning. Talk to your doctor before going to the dentist.

Children with congenital heart defects

Some children with congenital heart defects do not grow and develop as fast as other children who are the same age. Your child may be smaller and thinner than other children. Your child may also start activities such as rolling over, sitting, and walking later than other children. After treatments and surgery, growth and development often improve.

Your child may need extra calories to grow. If your child’s heart has to pump faster because of the defect, the body needs more energy to keep up the extra work. This may cause your child to tire quickly. Some babies are not able to eat enough because they tire while feeding. Older children also may tire before finishing a meal.

Exercise for children

Exercise helps children strengthen their muscles and stay healthy. Your child may tire easily, so he or she should rest or take frequent breaks during activities, if necessary. Some children with congenital heart defects may need to limit the amount or type of exercise they do. Talk to your doctor about what is safe exercise for your child.

Remember to ask your doctor for a note for school and other organizations describing any limits on your child’s exercise or physical activities.

Emotional issues for children

Children with a serious heart problem may have a hard time coping or may feel isolated if they have to be in the hospital frequently. Some children feel sad or frustrated with their body image and their inability to be a “normal” kid. Sometimes brothers or sisters are jealous of all the attention received by the child with a congenital heart defect.

Parents may feel stress over financial and insurance issues. Your child may feel that he or she is the cause of this stress. Help your child by talking to him or her, and allow your child to be involved in everyday activities. If you have concerns about your child’s emotional health, talk to your child’s doctor.

Teenagers with congenital heart defects

The teenage years are difficult for most children. It is a time of risk taking, and denial is often used as a way of coping. There is pressure to be like other teenagers. Some teenagers with congenital heart defects still need specialized care and must take medicine on a regular basis. Help your teenager cope with the stresses of growing up with a serious health problem. Remind your teenager that, with proper care, he or she can grow up healthy and participate in most, if not all, activities.

Let your teenager help make decisions about medical care. This fosters independence and encourages regular followup with the doctor.

Many teenagers with congenital heart defects can participate in organized sports. Restrictions of activity vary depending on the teenager, the type of sport, and the type of heart defect. Some children may need to limit the amount of activity, and others may need to avoid contact sports. Your doctor can help you and your teenager decide which activities are right for him or her.

Overall, parents should be aware that the majority of children born with congenital heart defects live normal, healthy lives and should be encouraged to do so.

Adults with congenital heart defects

Today, most babies born with heart defects will live to be adults. Many of these adults believe that the surgery they had in childhood was a “cure” and may not realize that regular medical followup is needed to survive and maintain good health.

When thinking about changing jobs, adults with congenital heart defects should carefully consider the impact on their health insurance coverage. Some health plans have waiting periods or clauses to exclude some kinds of coverage. Before making any job changes, find out if the change will affect your health insurance coverage.

There are laws that protect people with congenital heart defects who are having trouble getting a job. The Americans with Disabilities Act and Work Incentives Improvement Act try to ensure equal hiring for all people, including those with health conditions.

Pregnancy and congenital heart defects

Women with congenital heart defects who want to become pregnant (or who are pregnant) should:

• Talk to their doctor about health risks during pregnancy
• Talk to their doctor about medicines that can be taken during pregnancy
• Consult with specialists who take care of pregnant women with congenital heart defects

For those following the pulse oximetry newborn screening bill in Nebraska, information is in the article below.  I spoke to Senator’s office last week to see where are at.  In a nutshell.  First, let me say I believe this legislation was introduced in Nebraska with all the best intentions.  I commend the Klein family for doing all they can to help protect other families from missed and delayed diagnosis of CHD.

Next, the bill is stuck in committee and will likely stay there.  Officials intend to hold hearings and do study on the subject over the summer and potentially reintroduce in 2011.

Senator Rogert’s office was NOT aware of the newborn screening protocol making its way through the national committee.  They were thrilled to hear that if/when HHS makes a formal recommendation for screening with pulse oximetry, it will be easy work for states to pass “supportive” language that ensures each state’s hospitals are implementing screening (this is exactly how things worked when universal hearing screening took effect).

http://www.midwestmessenger.com/articles/2010/03/13/burt_county/news/news04.txt

I’m attaching a PDF explaining how this all went down with hearing screening – for those interested.  Basically, history shows you achieve a rather prompt 50% hospital adoption rate as soon as Health and Human Services makes its recommendation that all babies be screened for something (in our case CCHD).   Things are a little different when conditions are added to the genetic screening panel.  By law, these recommendations from HHS are automatic “mandates”…which means no additional laws need to be passed at the state level.  Here in lies the difference.  Newborn screening is conducted by Department of Health labs and their workers.  It  is already within the government’s role.  Physical screenings, such as hearing screening – and soon, screening with pulse oximetry – are conducted by the HOSPITALS themselves, and hospital staff (in our case, labor & delivery nurses).  This requires state mandate to “officially” authorize.

Again, the reason the process works is that having been vetted by the committee and peers in medicine, hospitals and practitioners are already on board to adopt a recommendation once it’s been handed through HHS.  The state legislation helps hospitals get over the transitional hump of adoption though.  Basically, you can’t lag behind in implementation – and often the state laws provide appropriate, supportive tools to hospitals to aid them in deploying  a new screening.

Don’t forget, screening with pulse oximetry is only the SECOND physical screening to be suggested for universal adoption.   It actually took much longer for hearing screening.  We are in a good place.  Screening for severe jaundice is most likely the next one up for consideration.

I share this as a way of encouraging all of us to stay consistent with our mission and messaging to hospitals, physicians, policy officials and the general public. We know how many babies are affected by congenital heart defects and heart disease.  Today, the tide has turned in favor of identifying them sooner – improving outcomes and saving lives.  It’s actually an amazing thing.