FA Beginner's 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.
* 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.
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 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. Life expectancy may be affected, and many people with Friedreich's ataxia die in [early] adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms of Friedreich's ataxia live much longer, sometimes into their sixties or seventies." 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  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
|Questions for your Cardiologist|
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://www.drkoop.com/ency/93/003399.html
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.
"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 http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm
(2) Gene Clinics (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=friedreich)
(3) Muscular Dystrophy Association - The Heart is a Muscle Too; Frequently Asked Questions About Cardiac Problems in Neuromuscular Disease; by Margaret Wahl (www.mdausa.org)
Thank you to the above sources for Internet access to the valuable information necessary to produce this material.
Issues to Discuss with Your Doctor Prior to Surgery in FA Patients
by Mary-Lisa Orth
Questions for your Cardiologist
Pregnancy and Friedreich's ataxia
by Ataxia UK and FARA