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Monday, May 18, 2009

What exactly is wrong with BabyGirl?

Along with a few others questioning 'what exactly is wrong with BabyGirl?', I had a sweet dear friend email me this evening. She messaged me with some questions because as she looked at the pictures of my beautiful, seemingly healthy 4 year old, she could hardly bear to believe something this huge was wrong with her. The hardest part of every second of every day for me is exactly what she experienced tonight. It makes you doubt whats going on because you just don't want to believe it by looking at her. But I have to keep reminind myself that ignorance is not bliss, and I will do whatever I have to do to make sure I watch that 4 year old turn 14, and 24 and 24.....

I found a wonderful, straight forward article that explains the main problem with BabyGirl's heart. She has a defect called Myocardial Bridging, a coronary artey buried under muscle. That defect caused a very rare disease of the heart, called Restrictive Cardiomyopathy. The parts of it being genetic are void, since the RCM is a result of another defect. Here is the text of an article from the American Heart Association explaining, point blank, what it is. And why a transplant is the only way to ensure BabyGirl makes it to her 10th birthday.

Restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease that is characterized by restrictive filling of the ventricles. In this disease the contractile function (squeeze) of the heart and wall thicknesses are usually normal, but the relaxation or filling phase of the heart is very abnormal. This occurs because the heart muscle is stiff and poorly compliant and does not allow the ventricular chambers to fill with blood normally. This inability to relax and fill with blood results in a “back up” of blood into the atria (top chambers of the heart), lungs and body causing the symptoms and signs of heart failure.

Within the broad category of cardiomyopathy, RCM is the least common in
children, accounting for 2.5–5% of the diagnosed cardiomyopathies (occurs in
less than one per million children). The average age at diagnosis is 5 to 6
years. RCM appears to affect girls somewhat more often than boys. There is a
family history of cardiomyopathy in approximately 30% of cases. In most cases
the cause of the disease is unknown (idiopathic), although a genetic cause is
suspected in most cases of pediatric RCM.

Signs and Symptoms of RCM

In children the first symptoms of RCM often seem related to problems
other than the heart. The most common symptoms at first may appear to be lung
related. Children with RCM frequently have a history of “repeated lung
infections” or “asthma.” In these cases, referral to a cardiologist eventually
occurs when a large heart is seen on chest x-ray. The second most common reason
for referral is an abnormal physical finding during a doctor’s examination.
Children who have ascites (fluid in the abdomen), hepatomegaly (enlarged liver)
and edema (fluid causing puffy looking feet, legs, hands or face) are often sent
to see a gastroenterologist first. Referral to a cardiologist is made when
additional cardiac signs or symptoms occur, a chest x-ray is found to be
abnormal or no specific gastrointestinal cause is found for the edema or
enlarged liver. When the first sign of the disease is an abnormal heart sound,
or signs of heart failure are recognized, then earlier referral to a
cardiologist occurs. In approximately 10% of cases, fainting is the first
symptom causing concern. Unfortunately, sudden death has been the initial
presentation in some patients.

Diagnosis of RCM

Restrictive cardiomyopathy is among the rarest of childhood
cardiomyopathies. Its diagnosis is difficult to establish early in the clinical
course due to the lack of symptoms. Therefore, in many cases, this diagnosis is
made only after presentation with symptoms such as decreased exercise tolerance,
new heart sound (gallop), syncope (passing out) or chest pain with exercise.

Once suspected, there are certain tests that can help confirm this
diagnosis. An electrocardiogram, or EKG, which records the electrical conduction
through the heart, can be very helpful. This can show abnormally large
electrical forces from enlargement of the atria (upper chambers) of the heart.
An echocardiogram, or ultrasound of the heart, can provide additional clues to
help make this diagnosis. Generally, in children with RCM, the echocardiogram
shows marked enlargement of the atria (upper chambers), normal sized ventricles
(lower chambers) and normal heart function. In more advanced disease states,
pulmonary artery pressure (blood pressure in the lungs) will be increased and
can often be estimated during the echocardiogram.

Cardiac catheterization is usually the next procedure done to confirm
the diagnosis. During this procedure, a catheter (thin plastic tube) will be
slowly advanced through an artery or vein into the heart (while watching its
course on a TV monitor) so that pressures within the heart chambers can be
measured. These measurements often show significantly elevated pressures during
the relaxation period of the heart (when it fills with blood before the next
beat) and varying degrees of increased pulmonary artery pressure (which can
confirm the echo estimates) in the absence of any other structural heart
disease. In very rare cases, based on clinical symptoms and prior laboratory
evaluation, a cardiac biopsy may be performed. This involves removing tiny
pieces of heart muscle for inspection under the microscope to search for
potential causes of this condition (such as amyloidosis or sarcoidosis,
which are common causes of RCM in adults but rarely in pediatric patients).

Finally, since childhood RCM is often genetic and in many cases will be
inherited, once this diagnosis is established, your doctor will likely request
that parents, siblings of the patient and sometimes other close relatives be
screened with an echocardiogram to rule out the presence of this disease in
other family members.

Causes of RCM

Although the cause of RCM is not known in most pediatric cases, there
is some scientific evidence suggesting that individual genetic “mutations” may
be a cause in some cases of RCM in children. For a greater understanding of the
basics of human inheritance patterns and a more detailed discussion of the
potential genetic causes of RCM, the reader is encouraged to read separate
sections entitled “Overview of Inheritance” and “Genetics of Cardiomyopathies”
printed elsewhere in this brochure.

Current Treatment

Currently, there are no therapies that can “cure” RCM; however, some
treatments are available that can improve symptoms in children with RCM. The
choice of a specific therapy depends on the clinical condition of the child, the
risk of dangerous events and the ability of the child to tolerate the therapy.

Medical Therapies to Treat RCM and Associated Heart Failure

Some children with RCM have signs and symptoms of heart failure due to
the abnormal relaxation properties of the heart muscle. The most common types of
medications used to treat heart failure under these circumstances include
diuretics, beta-blockers and occasionally afterload reducing agents.

Diuretics, sometimes called “water pills,” reduce excess fluid in the lungs
or other organs by increasing urine production. Diuretics can be given either
orally or intravenously. Common diuretics include furosemide, spironolactone,
bumetanide and metolazone. Common side effects of diuretics include dehydration
and abnormalities in the blood chemistries (particularly potassium loss). In
patients with RCM, diuretics must be used very carefully and given only in doses
to treat extra lung and abdominal fluid without inducing excessive fluid loss as
this may cause symptomatically low blood pressure.

Beta-blockers slow the heartbeat and increase the relaxation time of the
heart. This may allow the heart to fill better with blood before each heart beat
and decrease some of the symptoms created by the stiff pumping chambers. Common beta-blockers (taken by mouth) include carvedilol, metoprolol, propanolol and atenolol. Side effects include dizziness, low heart rate, low blood pressure,
and, in some cases, fluid retention, fatigue, impaired school performance and

Anticoagulation Medications

In children with a heart that does not relax well, there is a risk of blood
clots forming inside the heart possibly leading to a stroke. Anticoagulation
medications, also known as blood thinners, are often used in these situations.
The choice of anticoagulation drug depends on how likely it is that a blood clot
will form. Less strong anticoagulation medications include aspirin and
dipyridamole. Stronger anticoagulation drugs are warfarin, heparin, and
enoxaparin; these drugs require careful monitoring with regular blood testing.
While variable, common side effects of anticoagulants include excessive bruising
or bleeding from otherwise minor skin injuries, interaction with other
medications and, for warfarin, fluctuations in anticoagulation blood levels
caused by changes in daily dietary intake. Information regarding which food
groups can significantly affect warfarin levels can be obtained from your

Surgery for Restrictive Cardiomyopathy

No surgery has been effective in improving the heart function in
restrictive cardiomyopathy. Heart transplantation is the only effective surgery
offered for patients with RCM, particularly those who already have symptoms at
the time of diagnosis or in whom reactive pulmonary hypertension exists.


Since there are no proven effective therapies for children with RCM,
transplantation is the only known intervention for this disease. This is
especially true in cases where evaluation has demonstrated the presence of
pulmonary hypertension, which can be fatal if not treated. For children with
RCM, heart transplantation can address both the abnormal heart function as well
as associated pulmonary hypertension. A heart transplant offers the child with
RCM the chance to return to a normal lifestyle. While a donor heart can cure the
symptoms of heart failure and greatly improve survival, it is a major operation
with considerable risks and long-term complications. Once a transplant is done,
other concerns arise, such as infection, organ rejection, coronary artery
disease, and the side effects of medications.


The long-term prognosis for children with RCM varies depending on the
symptoms at the time of diagnosis and the presence of pulmonary hypertension.
Children with RCM should be watched closely for the development of excess fluid
retention, abnormal heart rhythms, blood clots inside the heart or evidence of
progressive pulmonary hypertension.

As discussed previously, RCM is rare, and there is limited information
on this disease in children. Once diagnosed, approximately 20% develop
thrombotic or embolic events (blood clots). The average two-year survival rate
for children with RCM is 45–70% including those treated with heart
transplantation. Survival increases significantly for children who are
transplanted. Irreversible pulmonary hypertension (high blood pressure in the
lung vessels) has been the only major risk factor associated with poor outcome
among these patients. Therefore, it is important that transplant be considered
sooner than later to optimize long-term survival, as the waiting time for a
donor heart can be unpredictable. Finally, a child with RCM should be closely
monitored at a center with expertise in pediatric heart failure, cardiomyopathy,
arrhythmias and transplantation in order to ensure rapid response to any
worsening of his or her condition.

Living with RCM

The diagnosis of RCM affects many areas of a child’s life. The following sections outline the general approaches to living with RCM. It is important that specific recommendations are developed by the team caring for the child with restrictive cardiomyopathy.

Physical Activity
Children with RCM are not allowed to play competitive sports because of the possibility of a sudden collapse or increased heart failure. A competitive sport is an organized team activity for which training is required. A child with restrictive cardiomyopathy and no heart failure symptoms can be allowed to perform recreational athletic activities, also known as low-dynamic or low-static sports, in a non-competitive situation. Specific activity recommendations should be individualized by the treating cardiologist.

The intellectual, psychological and social benefits of attending school cannot be overestimated in the child with RCM. Adjusting medication schedules so they do not interfere with school activities, discussing safe activity levels with school personnel, and providing tutoring to maintain academic performance are important interventions that can help a child to stay in school and keep up with their peers. Often close communication between the parents, medical care team, and the school nurse can help to keep a child up to date in school.

Every effort should be made to allow a child with RCM to spend time with friends. The child should also be allowed to participate in recreational activities whenever possible. However, an effort should be made to avoid contact with those who are acutely ill with fever, even though many children with RCM are able to tolerate upper respiratory tract illnesses (common colds) well.

Psychological Issues
Adjusting to having a chronic illness is stressful for the child and the family. The child’s reaction to having RCM often depends on the stage of the child’s development. Discussions about the disease should be tailored to the specific concerns of the child. Child-life professionals and pediatric psychiatrists are important resources to help
children cope, and their services are often available through the treating center.

The impact of a diagnosis of RCM is felt throughout the child’s immediate and extended family. It is important for parents and other caregivers to realize that they are not alone in feeling the weight of responsibility that comes with taking care of a child with a chronic illness. Anticipating and/or preventing the stress imposed by an illness is an important part of caring for the child and family and personnel at the cardiomyopathy center can help identify issues that can lead to
increased stress. Practical solutions to problems giving medications, keeping track of appointments, and maintaining normal family life can often be found through discussions with nurse clinicians, the social worker, psychiatrist, and other parents of children with RCM.

All children with RCM should follow a healthy diet. The recommendations published in 2005 by the United States Department of Agriculture (USDA) can be found at the following website address:

In children with RCM and extra lung and abdominal fluid, a low-salt diet is
recommended to avoid excessive fluid retention. Some children with heart failure
may not grow well. In these cases, a diet that increases calories is

Children who are taking some medications may have low levels of
magnesium or potassium and a diet that has a higher amount of one or both of
these two electrolytes may be recommended. Some children with severe heart
failure can retain extra body fluid, and it may be necessary to limit the amount
that a child can drink to prevent fluid from accumulating in the lungs.

Health Maintenance
Routine pediatric care is important for children with RCM. Regular well child visits and standard childhood immunizations should be performed. The influenza vaccine should be administered on a yearly basis. Children under age 2 should receive Synagis for protection against respiratory syncytial virus. A medical alert bracelet is an important safety measure for children with RCM. In the event of an emergency, these bracelets allow medical personnel to know details about a child’s illness, especially if a family member is not available.

What Does the Future Hold for RCM?
Slowly, progress is being made in our ability to diagnose RCM in both the clinical and molecular arenas. However, much additional research is needed in this field. Areas of research to be highlighted over the next decade include: 1) better understanding of RCM as a disease process and the characteristics of the disease as they relate to
outcome, which will lead to better management strategies; 2) increased clinical
trials which will lead to new drug development and more effective therapies; and
3) molecular identification of novel genetic mutations as well as more precise
diagnostic genetic testing/screening which will result in more accurate

It is the expectation of the medical community that the data derived from exploring these avenues of scientific research will translate into a clinician’s ability to tailor medical therapy based on a given child’s precise diagnosis. Achieving this goal over the next couple of decades will represent a large milestone in the field of pediatric cardiomyopathy and will, hopefully, improve the ongoing care and prognosis of children afflicted with these heart muscle diseases.

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