Caring for and Empowering your Child

Ultimately, no one knows how to better care for your child than you do. As a parent, you have instincts, passion, and most of all love – all these things mean that you are perfectly capable of giving your child the best care possible. However, when you learn that your child has been diagnosed with a CHD, most parents can’t help but wonder, “How do I care for my child?” We all second-guess our parenting abilities from time to time, but when you have a child with extra needs, we may find ourselves second-guessing our actions even more. Here are some specific things that parents of children with a CHD should consider when providing care for their children.

Although many of the day-to-day tasks such as special feedings, looking out for signs of problems or complications, or administering medicines actually become like second nature and relatively “easy” over time, other issues within the realm of caring for our children are what cause us to doubt ourselves. One of these issues involves how to treat our children when it comes to addressing their illness. Whether your child is diagnosed with a CHD in infancy or later in childhood, you’ll have to explain to him or her things such as why they have a surgical scar, why they need to visit the doctor/hospital more frequently than some other children, why they must take medication every day, etc. Many parents think they can’t handle or shouldn’t address these issues; however, it is by addressing these issues and having these types of discussions with your child that makes your care for them even that much better.

Besides communicating with and educating your child, the main advice that numerous child psychologists and doctors will give regarding this issue is to encourage your child to become involved in their own care (when/if they are emotionally and physically able of course). This makes children feel much more confident and in control – children will most likely think, “Wow, if Mommy and Daddy trust me to take care of myself I must be doing great!” It’s a great tool to empower your child and yourself. Depending on the level of care your child requires, the doctor or other members of the medical team can give you specific instructions regarding how to incorporate your child in the caretaking process. And at the end of the day, involving your child in their own caregiving is the best way you as their parent can care for them as well.

The Care Behind the Kids!

Mark O'Shea and the Staff of the Pediatric Heart Institute at Vanderbilt Children's Hospital (Nashville, Tennessee) are back! But this is not a music video... it's a nine minute look at the Doctors, Nurses, and Staff of the Heart Institute and what they do. We present this to you on Valentine's Day with love and best wishes from both Kim and Steve!

Newborn Screening Test Could Save Lives

Research paper: Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: A Swedish prospective screening study in 39,821 newborns

The British Medical Journal

Routine screening of blood oxygen levels before discharge from hospital improves the detection of life threatening congenital heart disease in newborns and may save lives, according to a study published on bmj.com today.

The low false positive rate of pulse oximetry screening and the reduced need for treatment because of a timely diagnosis also makes this a cost effective intervention, say the authors.

Pulse oximetry screening has been suggested for early detection of congenital heart disease, but its effectiveness is unclear.

The authors found that in apparently well babies ready for discharge a combination of clinical examination and pulse oximetry screening had a detection rate of 82.8% for duct-dependent heart disease. The detection rate of physical examination alone was 62.5%. Pulse oximetry also had a substantially lower false positive rate (0.17%) compared to physical examination alone (1.90%).

However, some babies had been detected before discharge examination, meaning that the introduction of pulse oximetry screening in West Götaland improved the total detection of duct dependent heart disease to 92%. This was significantly higher than the 72% detection rate in other regions not using the screening technique. Interestingly, improved detection was achieved by a maximum of just five minutes of extra nursing time per baby.

Research Yeilds Answers on Aortic Arch Defect Causes

By The Pittsburgh Tribune-Review
Tuesday, July 8, 2008

Research led by University of Pittsburgh scientists is the first to describe how two common congenital circulatory problems form, the university announced today.

The team found that a gene called unc45a plays a critical and previously unknown role in the formation of aortic arch vessels. The vessels contribute to several of the body's major arteries and often develop improperly, causing a wide range of vascular defects.

The team also found that arteriovenous malformations, or AVMs, happen when an artery fuses with a vein, diverting blood flow, and result from genetic and physiological factors. Previously doctors had believed its origins were solely genetic.

The research is published in the journal Developmental Biology. Scientists at Georgetown University Medical Center and the National Institutes of Health also participated.

$1 Million Gift to Support Earlier CHD Detection

Washington, DC (PRWEB ) May 15, 2008 -- The Elsie & Marvin Dekelboum Family Foundation has announced a gift of $1 million to Children’s National Medical Center. The gift will allow the Children’s National Heart Institute to launch a Congenital Heart Defect Screening Study. Children’s National will name a three-bed bay in the new Cardiac Intensive Care Unit in honor of the Elsie & Marvin Dekelboum Family Foundation.

The heart defect screening study will focus on the effectiveness of an inexpensive device called a pulse oxymeter that could help identify more than 80 percent of life-threatening congenital heart defects. If initial findings are validated, the Dekelboum gift will enable Children’s National to promote its use in hospitals across the country and around the world – improving early detection and health outcomes for children everywhere.

Information from US NIH

I found a fabulous cross-referenced website I'd been missing last night - the National Institute of Health (US) has a webpage chocked full of information and news on CHD. Check it out!

This has been the most helpful page I've found so far... they have links to videos, clinical trials, current research, recent news and advancements, treatment options and more.

Why is it so hard to find info on CHD? Maybe I just wasn't looking in the right places before...

References on Prenatal CHD Diagnosis Research

It looks like there are others out there who, like me, want to absorb all they can about CHD, incidence rates, diagnosis rates and other information. Often that info is hard to find.

The following references were uncovered by MaryAnn Kuzio, mom to a son with CHD. Thanks for sharing this information MaryAnn!

Trends in Prenatal Diagnosis, Pregnancy Termination, and Perinatal Mortality of Newborns With Congenital Heart Disease in France, 1983-­2000: A Population-Based Evaluation
Babak Khoshnood, MD, PhD*, Catherine De Vigan, MD*, Véronique Vodovar, RN*, Janine Goujard, MD*, Anne Lhomme, MS*, Damien Bonnet, MD{ddagger} and François Goffinet, MD, MPH*
Paris Registry of Congenital Malformations, Epidemiological Research Unit on Perinatal and Women's Health, INSERM U149, Villejuif, France
Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants, Malades, Paris, France
http://pediatrics.aappublications.org/cgi/content/full/115/1/95

Published online January 3, 2005
PEDIATRICS Vol. 115 No. 1 January 2005, pp. 95-101
(doi:10.1542/peds.2004-0516)

Objective. To examine population-based overall and malformation-specific trends in the prenatal diagnosis, pregnancy termination, and perinatal mortality for congenital heart disease (CHD) during a period of rapid
progress in prenatal diagnosis and medical management of CHD and to explore the impact of prenatal diagnosis on early neonatal mortality for specific (isolated) cardiac malformations.

Methods. A total of 1982 cases of CHD, which were not associated with a known chromosomal anomaly, were obtained from the Paris Registry of Congenital Malformations. Main outcome measures were trends in the proportions diagnosed and terminated before birth, stillbirth, and early (<1 day, 1-week) neonatal mortality for (1) all cases; (2) all cases excluding isolated ventricular septal defects; and (3) malformation-specific trends for transposition of great arteries, hypoplastic left heart syndrome, coarctation of aorta, and tetralogy of Fallot. Analyses included cusum and binomial regression models for analysis of the trends during 1983­2000.

Results. Prenatal diagnosis rates for CHD increased from 23.0% (95% confidence interval [CI]: 19.0­27.4) in 1983­1988 to 47.3% (95% CI:43.8­50.8) in 1995­2000. Termination rates increased between 1983 and 1989 (9.9%; 95% CI: 7.2­13.2) and 1989 and 1994 (14.7%; 95% CI: 12.3­17.4) but seemed to remain stable thereafter. Other than for hypoplastic left heart syndrome, pregnancy termination was exceptional for the other 3 specific malformations examined. Early neonatal mortality decreased to less than one third in the period 1995­2000 as compared with 1983­1989 (risk ratio, first-week mortality: 0.31; 95% CI: 0.18­0.53). First-week mortality was significantly lower for cases of transposition of great arteries that were diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0­26.7).

Conclusions. Progress in clinical management, together with policies for increased access to prenatal diagnosis, has resulted in both a substantial increase in the prenatal diagnosis and considerable reductions in early neonatal mortality of CHD in the Parisian population.

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Prenatal diagnosis of six major cardiac malformations in Europe ­: A population based study
Ester Garne and THE EUROCAT WORKING GROUP, From the University of Southern Denmark, Odense C, Denmark
Members of the Eurocat Working Group:Bianchi F, CNR Institute of Clinical Physiology, Pisa (I); Garcia-Minaur S, Hospital de Cruces, Baracaldo (E); Gillerot Y, Institut de Pathologie et de Genetique, Loverval (B); Riano Galan I, Registry of Asturias, Orviedo (E); Nelen V, Provincial Institut voor Hygiene, Antwerp (B); Nevin N, Queens University of Belfast (UK); Philip N, Hopital d¹Enfants de la Timone, Marseilles (F); Stoll C, Hopital de Hautepierre, Strasbourg (F); Stone D, Yorkhill Hospital, Glasgow (UK); de Vigan C, Inserm, Paris (F); de Walle H, University of Groningen (NL).
http://www.blackwell-synergy.com/doi/abs/10.1034/j.1600-0412.2001.080003224.x


Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations.

Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six cardiac malformations included were hypoplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fallot, transposition of great arteries and common A-V-canal.

Results. There were significant differences in the proportion of cases diagnosed prenatally, with the highest detection rate in France (91% for single ventricle in Paris) and the lowest detection rate in countries without prenatal ultrasound screening (no cases diagnosed prenatally in the Danish registry area). Prenatal detection rate was significantly higher for the three malformations affecting the size of the ventricles (hypoplastic left heart, tricuspid atresia, single ventricle) compared to the other three malformations (46% versus 24%, p<0.001). Time of diagnosis was late, with only one third diagnosed before 24 weeks of gestation. The risk of fetal death seems to be low.

Conclusion. There are significant regional differences in prenatal detection rate of major cardiac malformations in Europe.
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http://www.springerlink.com/content/rka44dbmk2a93f8t/

Abstract Fetal echocardiography has impacted the fetus with congenital heart disease in many important ways. Advances in fetal echocardiography have allowed for more accurate and earlier detection of cardiac abnormalities. In turn, the prenatal diagnosis of cardiac abnormalities has improved the care and outcome of selected fetuses with severe
cardiac malformations or arrhythmias. Fetal echocardiography has improved the understanding of the development and evolution of congenital heart disease in utero, and it may serve a role in identifying candidates for prenatal intervention. The prenatal diagnosis of congenital heart disease has allowed for better counseling and preparation of families regarding the anticipated prenatal development of the fetus as well as the expected postnatal management plans and prognosis. This article reviews the impact of fetal echocardiography in these and other areas.

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Importance of timely diagnosis of congenital heart disease
Houssem Masmoudi & Martial M Massin
Queen Fabiola Children¹s University Hospital, Department of Paediatric Cardiology, Free University of Brussels (ULB), Brussels, Avenue J. J. Crocq, 15 B-1020, Belgium. martial.massin@huderf.be
http://www.futuremedicine.com/doi/abs/10.2217/17455111.2.1.47

Most important types of congenital heart disease can be recognized early during prenatal or neonatal screening. However, a substantial proportion of cardiac defects are not diagnosed in due time. Such delay may lead to serious complications or even death. This article reviews the impact of screening strategies upon the outcome in pediatric cardiac patients.
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http://www.hirsla.lsh.is/lsh/handle/2336/16073

Objective: About 1% of live born children have congenital heart defects (CHD). Knowledge of the true incidence of CHD is important because of the risk of bacterial endocarditis in patients with heart defects. This knowledge could also serve as a basis for research on the etiology of CHD. The aim of our study was to investigate the incidence of CHD in
children born in Iceland during a ten year period, from 1990 to 1999. A similar study on CHD was carried out in Iceland for children born 1985-1989. The incidence of CHD in the present study was compared to the previous and to similar studies from other countries. Material and methods: Information about the patients were obtained from medical records from two hospitals covering the whole country, a private clinic of pediatric cardiologists, echocardiography database, autopsy reports and death certificates. Distribution of specific heart defects, age at diagnosis, symptoms leading to the diagnosis, referral pattern, treatment and quality of life was investigated. Other congenital defects, chromosomal defects and syndromes in the patients were studied.

Premature children with patent ductus arteriosus (PDA) and children with patent foramen ovale (PFO) or atrial septal defect (ASD) smaller than four millimeters were excluded. We also studied the incidence of bicuspid aortic valve (BAV). All diagnoses were confirmed with echocardiography and in some cases cardiac catheterization.

Results: Between 1990 and 1999 there were 44,013 live births in Iceland, 740 children were diagnosed with a CHD or 1.7% of live born children. Yearly incidence varied from 1.04% of live births in 1991 to 2.34% in 1997.
Male/female ratio was 1/1. The distribution of the defects was following: ventricular septal defect (VSD) 338 (45.7%), ASD 90 (12.2%), PDA 85 (11.5%), valvar pulmonal stenosis 48 (6.5%), BAV 38 (5.1%), coarctation of the aorta 28 (3.8%), tetrology of Fallot 22 (3.0%), transposition of the great arteries 14 (1.9%), aortic stenosis 11 (1.5%), common atrioventricular septal defect 10 (1.4%), mitral valve regurgitation 9 (1.2%), sub-aortic stenosis 7 (0.9%) and hypoplastic left heart syndrome 5 (0.7%). Other defects were less frequent.

About 47% of children with CHD were diagnosed either before birth or before discharge from the delivery institution. A cardiac murmur on examination was the most common symptom leading to the diagnosis of CHD, 631 patients (85.3%). Extracardiac anomalies were seen in 89 patients (12.0%). Chromosomal abnormalities were seen in 36 patients of whom 28 had Down's syndrome. The majority or 499 patients have no symptoms but are still in follow-up, 20 patients have daily symptoms and/or receive medical treatment and 27 patients have died.

Conclusions: Annual incidence of patients diagnosed with a CHD has increased during the study period. This is observed in minor CHD but the incidence of major defects does not alter. This yearly incidence (1.7%) is higher than in
the previous study, where it was 1.1%. The difference can partly be explained by the BAVs, which were excluded in the 1985-1989 study. But the number of CHD diagnosed each year has increased, this being most pronounced in the last three years. The annual incidence in our study is also higher than in other population studies. The most likely
explanation for the higher incidence in our study is the fact that access to pediatric cardiologists is very good in Iceland. Diagnosis, registration and follow-up is conducted by only a few cardiologists for the whole nation and takes place at a single pediatric cardiology center. Of 740 patients diagnosed with CHD in the study period 713 are alive. The outcome of the therapy is good and the majority of the patients has no symptoms.

Detecting CHDs

How are CHDs detected at birth? Are they even tested for? Of course every doctor listens to a baby's heart, but time and again they do not report murmurs (which are frequent and can often be harmless in small children). Many times babies "blue" but are sent home anyway. The following is an article from 2005 posted recently on a list serv on CHIN that tells about the latest trends in detecting CHD.

The evolution of diagnostic trends in congenital heart disease: A
population-based study
* V Grech
1Paediatric Department, St. Luke’s Hospital, Guardamangia, Malta
Correspondence to: V Grech
Senior Registrar, Paediatric Department of St. Luke’s Hospital,
Guardamangia, Malta. Fax: 240176; email: victor.e.grech@magnet.mt

Objective: To analyse historical trends in diagnosis of congenital heart
disease (CHD) in all diagnosed cardiac malformations born between 1945
and 1994 in a population-based study, the first of its type.

Methodology: Retrospective analysis of age and mode of diagnosis was
carried out in 953 patients with CHD, in the setting of a regional
hospital providing diagnostic and follow up services for all of Malta.
Main outcome measures were age at diagnosis, cumulative percentage
diagnosis by age and mode of diagnosis.

Results: A significant negative correlation of age at diagnosis with
time was found for both lesions not requiring intervention, and
requiring intervention (P < 0.0001). Cumulative percentage diagnosis by
age increased progressively with time. Echocardiography increased the
birth prevalence of definitively diagnosed defects, particularly of
lesions not requiring intervention. The annual number of cardiac
catheters for these conditions has decreased with an increased number
and proportion of interventional catheters. The current catheterization
rate for CHD is 6.1/100,000 population.

Conclusion: Echocardiography has led to an increase in the diagnosis in
the birth prevalence of CHD, and provided early diagnosis, supplanting
cardiac catheterization as a primary diagnostic tool.
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http://pediatrics.aappublications.org/cgi/content/full/115/1/95
Published online January 3, 2005
PEDIATRICS Vol. 115 No. 1 January 2005, pp. 95-101
(doi:10.1542/peds.2004-0516)