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Cardiac Primer

As a result of the personal experiences of our family and considerable reading, the information below has been compiled to help you in understanding the cardiac problems associated with FA, as well as offering tips and advice regarding cardiology appointments and care.

Information sources are referenced in the footnotes. The information for the accompanying cardiac problems can be frightening. While a small percentage of patients never develop cardiac problems, most do. Some patients remain stable and others' cardiac problems progress rapidly.

My son was genetically confirmed with FA at age 11. His GAA repeat lengths are 700 and 1050. He had been exhibiting physical symptoms since he was 9 years old. His primary care physician recommended that he be examined by a cardiologist. At age 11, my son's initial cardiac diagnosis was non-obstructive hypertrophic cardiomyopathy with no arrythmia. Sadly, my son's cardiac function has progressively worsened over the years. Research is making tremendous progress, but FARA needs your help in advancing better understanding of FA cardiology and therapeutics for FA hearts.

-Ron & Raychel Bartek

The information provided here should NOT be used as a substitute for seeking professional medical diagnosis, treatment, and care. You should NOT rely on any information in these pages to replace consultations with qualified health professionals.  When you see your health professional, you might want to print a copy of the cardiac section from the Clinical Management Guidelines to share with your cardiologist.

According to the National Institutes of Health (www.ninds.nih.gov), FA "symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. Friedreich's ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich's ataxia live into their sixties, seventies, or older." 1

"Cardiomyopathy is more frequently seen with longer GAA repeat alleles [Durr et al 199, Filla et al 1996, Monros et al 1997]. Significant correlation is seen between the length of the GAA expansion and the thickness of the interventricular septum and left ventricular wall [Isnard et al 1997, Dutka et al 1999, Bit-Avragim et al 2001]. Isnard et al [1997] found echocardiographic evidence of left ventricular hypertrophy in 81% of patients with FA with repeat lengths greater than 770 triplets and in only 14% of those with repeat lengths less than 770 triplets. Montermini, Richter et al (1996) and Delatycki, Paris et al (1999) showed that the presence of cardiomyopathy correlated with the severity of disease as assessed by earlier age of onset.2

Write down questions you would like to ask at the appointment.

Bring a paper and pen.

Take the patient's file with all the previous cardiology reports.

Understand your child's cardiology report. Definitions of most "cardiac" medical terms, can be found in the Heart and Stroke Encyclopedia hosted by the American Heart Association (www.americanheart.org).

The physical exam checks height, weight, pulse, respiratory rate, and blood pressure. The cardiologist uses a stethescope to listen to the patient's breathing to determine if the lungs are clear on auscultation (auscultation means the sounds produced by the structures of the lungs during breathing).

The cardiologist listens to the heart with a stethescope to check for normal heart sounds. The heart contracts and relaxes with each heartbeat. The contraction part of this cycle is called systole (S1). The relaxation portion is called diastole (S2). The cardiologist also listens for abnormal sounds such as murmurs or gallops.

A diastolic murmur occurs when the heart muscle relaxes between beats. A systolic murmur occurs when the heart muscle contracts. Systolic murmurs are graded by intensity (loudness) from one to six. A grade 1/6 is very faint, heard only with a special effort. A grade 6/6 is extremely loud.

The term "gallop sounds" refers to the cadence of S1 and S2 along with either an S3 or an S4, or their summation. This nomenclature arose because the trio of sounds simulates the cadence of a galloping horse, especially when the heart rate approaches 100 beats per minute. Gallop sounds are by definition diastolic events.

The cardiologist examines the patient for peripheral edema which is an abnormal build-up of fluids in ankle and leg tissues.

Electrocardiogram
This is a test used to determine if the heart's rate and rhythm are normal or if heart damage has occurred. It's a graphic record of the electrical impulses of the heart.

When an electrocardiogram is done, several wires, or "leads," are usually attached to the arms, legs, and chest. This is called a "12-lead ECG." It allows a doctor to take 12 different recordings at the same time. Each lead records the same electrical impulse, but from a different position in relation to the heart.

Echocardiograph
This is a technique that sends sound waves into the chest to rebound from the heart's walls and valves. The recorded waves show the shape, texture, and movement of the valves on an echocardiogram. They also show the size of the heart chambers and how well they're working.

The "echo" measures the ejection fraction and the shortening fraction:

"Ejection fraction. The left ventricle is a chamber which relaxes to fill with blood and then contracts to pump the blood out. Even in a healthy heart, the left ventricle does not pump all of the blood out with each beat. Only about two-thirds of the blood is normally pumped out with each beat. That fraction is referred to the ejection fraction.

The ejection fraction is a useful measure of left ventricular performance. The normal range is 63-77% for males and 55-75% for females (reference: Measurements in Cardiology).

Shortening fraction. The shortening fraction is a slightly different way of measuring left ventricle performance. Instead of measuring and ratio-ing blood volumes, the shortening fraction measures and ratios the change in the diameter of the left ventricle between the contracted and relaxed states.

The normal range is 0.18-0.42, or 18-42%" (reference: Measurements in Cardiology).

The "echo" also checks for mitral regurgitation. Mitral regurgitation causes volume overload of the left atrium and subsequently can lead to pulmonary edema and congestive heart failure.

Holter Monitor
The cardiologist may order a Holter Monitor. Holter monitoring is a continuous, twenty-four hour electrocardiographic (EKG) recording of the heart's rhythm. A patient wears a small recorder as he or she goes about normal daily life. The machine makes a graphic record of the heart's electrical currents. It is used mainly to document and describe abnormal electrical behavior in the heart. This can be random, spontaneous, sleep-related, or caused by emotion or stress. Capturing and relating symptoms with rhythm disturbances (changes in the normal electrical pattern of the electrocardiogram) during activity requires recording or observing the heart's electrical behavior during that time. This must be done continuously over time as a person goes about normal daily activities.

Our son's cardiologist ordered a Holter Monitor about once per year while he was being monitored for non-obstructive HCM with no arrythmia.

Event Monitor
Intermittent recorders are used for weeks to months to provide brief, intermittent recordings. A patient is able to press the record button to record an "event;" the findings are then sent to the cardiologist for interpretation.

Questions for Your Cardiologist


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For over four years my son was examined twice a year by the cardiologist. There was a gradual thickening of the left ventricle, but no appreciable "heart trouble." At one point, however, that routine changed abruptly. His previous cardiology visit had been routine and he was told to return in 6 months. HOWEVER, IN JUST THREE MONTHS HIS CARDIAC FUNCTION DRAMATICALLY DECLINED.

One early morning at 4 a.m., he woke me and asked me to feel his chest. He said it felt like his heart was going too fast. We immediately called our son's cardiologist. The cardiologist referred us to the nearest emergency room. Emergency room testing indicated that my son WAS correct. He did experience arrythmia. The emergency room ECG and Echo test results were forwarded to our cardiologist. His cardiologist performed additional testing including a Holter Monitor.

At age 16 our son's ejection fraction fell into the 40th percentile range. He also was diagnosed with supraventricular tachyardia (SVT). He was prescribed two prescription medications to improve his heart function and help correct the SVT.

For Emergency Room Visits
REMEMBER TO BRING YOUR CHILD'S FILE OF PREVIOUS CARDIOLOGY REPORTS; it serves as a guide to the on-call physician in determining a change in your child's cardiac function.

NOTE: MY SUGGESTIONS IS: ANY TIME AN FA PATIENT REPORTS UNUSUAL HEART SYMPTOMS, CALL HIS OR HER DOCTOR OR CARDIOLOGIST OR GO IMMEDIATELY TO THE HOSPITAL EMERGENCY ROOM.

Some of the symptoms could include shortness of breath on exertion, dizziness, fainting, chest pain or discomfort, or abnormal heart rhythms.

Children may describe a heart symptom as "my heart feels funny" or "different". Examples: "It feels like horses galloping. It feels like it's racing real fast. It feels heavy. My heart feels like it's flip flopping." Abnormal heart rhythms in some cases can lead to sudden death.

Encourage your child with FA to alert you if his or her heart feels "funny" or "different" than usual.

Periodically ask how his or her heart is "feeling."

You can check the pulse rate at http://takeyourpulse.org/take-your-pulse/

Praise your child for alerting you that something was wrong - it's vitally important. In our son's case, there were no outward signs we could have observed.

Why does FA Damage the Heart?

"Studies have revealed that frataxin, a protein that should normally be present in the nervous system, the heart, and the pancreas, is severely reduced in patients with Friedreich's ataxia. Studies have shown that patients have abnormally high levels of iron in their heart tissue. It is believed that the nervous system, heart, and pancreas may be particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen) because once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to free radical damage. The discovery of the genetic mutation that causes Friedreich's ataxia has added new impetus to research efforts on this disease." 3

The progression of FA varies with each patient. The patients who develop cardiomyopathy have varying presentations and differing rates of progression compared to other FA patients.

Let the cardiologist determine the best treatment based on the patient's cardiac problems related to FA! "What works for Johnnie's heart, doesn't necessarily work for Suzie's heart." Each case is different.

(1) NIH National Institute of Neurological Disorders and Stroke Friedreich's Ataxia Fact Sheet

(2) Gene Clinics

(3) American Academy of Neurology

Thank you to the above sources for Internet access to the valuable information necessary to produce this material.

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