1)      The Doctors say that my child has a murmur, what does that mean?

 A murmur is hearing blood flow through the heart or adjacent vessels.  Many murmurs are normal and can occur throughout childhood and even in adults.  Some murmurs however have a distinct loudness, associated vibration, or specific quality and location that lead to suspicion of an underlying heart defect creating this sound.  The primary care physician will often refer the child to the pediatric cardiologist for reassurance and confirmation that the murmur is normal or for investigation of what is suspected to be an abnormal murmur representing an underlying birth heart defect.

 

2)      What is an ASD? What is a VSD?

ASD is short for atrial septal defect.  This is a hole between the upper chambers of the heart (atrium).  When it occurs near the tricuspid valve and mitral valve, it is called a primum atrial septal defect.  When it occurs in the middle of the wall or septum, it is called a secundum atrial septal defect.  When it occurs near the entrance of the superior vena cava or the inferior vena cava into the right atrium, it is called a sinus venosus atrial septal defect.  The smaller normal flap in the middle of the wall is called a patent foramen ovale (PFO). This is not considered a birth heart defect.

VSD is short for ventricular septal defect.  This is a hole between the lower chambers of the heart (ventricle).  There are 4 major positions where these can occur.  Based on position the defect can be labeled perimembranous, subarterial or supracristal, muscular, and inlet.

The significance of these defects and the determination of best management are based on the size of the defect, the position of the defect, in some cases the numbers of the defects, and in consideration of additional cardiac defects or other medical issues.

 

3)      Is there help for the heart defects associated with Trisomy 18?

Review of the literature notes there are several possible birth heart defect that can be associated with Trisomy 18.  The most common include ventricular septal defect, atrial septal defect, and pulmonary stenosis.  Other reported defects include bicuspid aortic valve and more complex lesions such as double outlet right ventricle. These children can also have a persisting normal patent ductus arteriosus that may contribute to symptoms such as increased work of breathing or feeding.  They may also have persistent increased pulmonary vascular resistance, often referred to as pulmonary hypertension. Consider reviewing www.pted.org as an excellent website for general reviews of specific heart defects. 

Trisomy 18 is often considered a lethal genetic disorder with poor long-term prognosis and often death early in the first year of life.  The more severe the heart disease, the more likely the child will die from cardiopulmonary disease.  The children are also at greater risk for neurological disorders, significant developmental delay, infections, and feeding and nutritional challenges.

Like other complex genetic disorders, there have been milder presentations leading to anecdotal reconsideration of ethical care planning for these children.  Pediatric cardiology centers will work with families on a case-by-case basis to weigh the ethical challenges of long-term care needs and quality of life issues against early death from cardiopulmonary complications.

As a result, several centers have begun multidisciplinary discussion whose goal has been to address these children who survive beyond the first few weeks of life to consider repair of the ‘simple defects’ with a single surgery to overcome what is primarily a concern of risk of failure to thrive and death by congestive heart failure.  This would include consideration of medication or actual closure of ‘simple defects’ such as atrial septal defect, ventricular septal defect, and patent ductus arteriosus.  There is currently no known published report of repairing very complex defects in these patients and such ‘simple defect’ repairs remain the exception rather than the known rule for management.

It is important that parents be provided realistic expectations for still unclear long-term prognosis after such surgery and the potential demands on the family for meeting the medical, emotional, developmental, and financial needs for their child in making these very personal family decisions.  As there are varieties of approaches to the medial and rare surgical care, there may also be regional differences in health care coverage (insurance, Medicaid) for such procedures.

 

4)      How do I find someone to help my child’s heart defect?

The child diagnosed or suspected with Trisomy 18 as a fetus can discuss pediatric cardiology consultation with their maternal fetal medicine specialist.  Most fetal OB specialists will work closely with a pediatric cardiology colleague to address fetal diagnoses of birth heart defects.  If the child is diagnosed after delivery, the child can be referred for pediatric cardiology consultation by the primary care physician or neonatologist.  The baseline evaluation will likely include confirming chromosomal analysis, electrocardiogram, physical exam, complete echocardiogram of the heart and adjacent structures, and correlation with other identified medical problems.

 

5)      Is it unreasonable to try and seek help for my child’s heart defect?

It is always reasonable for a family to seek education regarding their child's complete diagnosis, prognosis, standard of care treatments, and open discussion of risks and benefits of alternative care options.  Each member of the child's care team including the parents and each physician will bring to the discussion their own experience, expectations, and concerns regarding best care for the child.  There will be a wide range of personal and team responses based on those issues as well as the specific clinical findings for each child.  Families should be prepared for open and honest discussions and the freedom to agree or disagree in care plan recommendations.  Differences in opinion or experience may lead a family to request or physician to recommend a second opinion in this process. Second opinions may lead to alternative care plans or build consensus toward current standard of care plans.  The surgical cardiac care of the Trisomy 18 patient is an evolving process with family and societal implications as we grapple with what can be done versus what should be done as true child advocates. Families and physicians are in the process of asking and answering these issues as we did in decades past for Trisomy 21 patients - some who also have significant developmental, neurological, and nutritional issues.