My Child Just Fainted: No Big Deal or Sudden-Death Warning?

Until March 1999, I was a happy mother of two boys, working as a firefighter/EMT-I at an industrial plant in North Dakota. On March 25, I received a phone call at work from the high school, saying that my oldest son, Shannon, was not in school that morning. On checking, my father found Shannon dead in his bed.

In November 1999, EMS Magazine published an article by Alan R. Cowen, MA, EMT-P, about the sudden death in 1989 of a seemingly healthy young lady named Cory Prince. Long QT Syndrome (LQTS), once thought to be a rare disorder, was the culprit. I was referred to the article in 2000, and realized that, coincidentally, at the time the article was written, I was searching for answers to the tragic death of my 17-year-old son.

After Shannon’s death, rumors started to fly in our small town. Suicide and drug overdose were the popular explanations for his death. It was quite obvious at the scene that it was not suicide, and I hoped no one had given him something that could kill him. The North Dakota state forensic medical examiner and I had many discussions during the wait for toxicology reports. He told me he was puzzled and couldn’t see any reason for cardiac arrest. We waited three months for autopsy and toxicology reports to be finalized. The reports said there was no evidence of street drugs in my son and no apparent reason for cardiac arrest. I was told, “You may never find out the cause of death.” In short, there were no answers.

In all my years in EMS, I had been taught, and believed, that you would know if a patient was sick enough to die. At age 17, 6´1" and 190 lbs., Shannon seemed to be perfectly healthy. We had annual physicals; we ate well-balanced meals. What had happened?

In May 1999, when my younger son Dustin, age 13, needed a sports physical to attend summer football camp, I took him to our local doctor, and everything seemed normal. When I suggested that “maybe he should have a baseline ECG,” the doctor told me to bring my son back when he was older. When it was time for football camp, I could not find the copy of the sports physical. As I searched my house, I found a copy of Shannon’s sports physical conducted 13 months prior to his death. The information on it brought me to my knees.

Shannon had checked yes to the following questions:

• Do you experience dizziness during and after exercise?
• Do you experience chest pain during and after exercise?
• Has anyone in your family died of heart problems or sudden death before age 50?
• Do you experience trouble breathing during and after activity?

I called the doctor and, the following morning, took Dustin for an ECG, which showed abnormal T waves that warranted seeing a specialist. We traveled to the Mayo Clinic in Minnesota to see a pediatric cardiologist. My son had an ECG, echocardiogram, chest x-ray and a physician consultation. All tests came back normal. I had brought along a copy of Shannon’s autopsy report and ECG results from my mother, father, sister and myself. Although the doctor said my ECG would be labeled normal by anyone who did not know specifically what to look for, it wasn’t a completely normal ECG. On it were borderline prolonged QT intervals, and the doctor told us they needed to do further testing and draw blood for genetic testing to detect the presence of defective ion channels in the heart.

Michael Ackerman, MD, PhD, conducted the testing, which included an exercise ECG, epinephrine QT stress test, Holter monitoring for 24 hours and a research test called a “dobutamine challenge.” We were among the first LQTS patients at Mayo Clinic to have some of these tests performed and to be clinically diagnosed with LQTS. I was diagnosed based on how my heart behaved during the epinephrine and dobutamine challenges. Dustin was diagnosed and placed on a beta-blocker because of his abnormal epinephrine QT stress test and documentation of a brief episode of nonsustained ventricular tachycardia captured during his 24-hour Holter. I was placed on a beta-blocker by phone after we returned home. We were told “no competitive sports, never swim alone, and always try to have someone with you who knows CPR.” At the time, it was believed that beta-blocker therapy should take care of any LQTS problems.

In February 2000, Dr. Ackerman and his colleagues discovered a defect in the KCNQ1 (also called KVLQT1) gene in my remaining son and me. In addition, a molecular autopsy confirmed the genetic defect in Shannon. My family has type 1 LQTS (LQT1). This discovery, and the concept of a molecular autopsy, was published by Dr. Ackerman and colleagues in the June 2001 issue of The American Journal of Forensic Medicine. The article discussed my son’s death and how medical examiners could save tissue/blood/organs for genetic testing to save the lives of other family members. It also said that 4,000 people between ages 2–22 die annually in the U.S. alone from unknown causes. These deaths are labeled Sudden Unexplained Death (SUD). Addressing this issue with medical examiners, coroners and forensic pathologists may help provide much-needed answers to these tragedies. Scientific advances have not yet eliminated LQTS deaths, but prompt and accurate recognition of this potential killer has thwarted its attempts to claim additional victims.

What is Long QT Syndrome (LQTS)?

LQTS is a disorder of the heart’s electrical system, which can cause lethal arrhythmias. It particularly involves the process of repolarization, or recharging of the electrical system after each heartbeat. The QT interval is the duration of “electrical recharging” measured on the electrocardiogram. In the patient with LQTS, the QT interval is often longer than normal. This abnormally prolonged recharging process renders patients vulnerable for an abnormal arrhythmia known as torsade de pointes (TdP). When TdP occurs, the heart cannot effectively pump blood, resulting in the typical symptoms of LQTS: fainting, seizing and sudden death. It is possible to go from a normal heartbeat to cardiac arrest in less than one minute. With LQTS, the only difference between fainting and waking up versus fainting and dying is whether or not the LQTS heart returns spontaneously to normal rhythm or first responders get to the heart in time to defibrillate. Fortunately, most LQTS patients do not die suddenly. Tragically, my son did.

Cause of LQTS

Long QTS is caused by dysfunctional protein structures in the heart cells called ion channels, which control the flow of ions like sodium and potassium. Flow of these ions in and out of the cells produces electrical activity in the heart. The functional properties of these cardiac channels can be influenced by exogenous factors (acquired LQTS), as well as intrinsic defects (inherited LQTS). The acquired form of LQTS is often caused by certain medications, electrolyte disturbances or underlying medical conditions. The inherited form of LQTS happens when a mutation occurs in the genetic code (blueprint) of the ion channel, causing the channel’s architecture to be altered. At the present time, mutations involving five different genes that encode critical cardiac channel subunits account for approximately 60% of inherited LQTS. Investigators have found certain triggers to be more “irritating” to the LQTS heart, depending on the patient’s genotype. For instance, the predominant trigger for our genotype, LQT1, is exertion. Of course, there are exceptions. Shannon was found dead in bed, despite having LQT1.

Symptoms of LQTS

Syncope, seizures and sudden death are common symptoms of LQTS. Syncope usually occurs during physical exertion or emotional excitement like anger, fear or being startled. Sudden death can occur during sleep or arousal from sleep, as well as during activity. In patients with syncope, the heart rhythm reverts spontaneously to normal. When this occurs, the patient regains consciousness within a minute or two. If the arrhythmia persists, the outcome is death.

About one-third of patients with this condition never have symptoms. In the other two-thirds, some have just one or two syncopal spells during childhood and none thereafter. Others have many episodes over a number of years. The symptoms may begin as early as the first days or weeks of life, or as late as middle age. Most commonly, the symptoms first occur during preteen and teenage years. The absence of syncope or sudden death does not necessarily guarantee the absence of this condition in the family.

It is critical to underscore that syncope is itself a very common condition and almost never indicates the presence of a potentially fatal condition like LQTS. As many as 20%–25% of all humans will experience at least one fainting episode. In contrast, LQTS is believed to affect approximately one in 5,000 persons and may claim approximately 2,000 lives each year in the United States. In a recent study of fainters who sought medical attention for the fainting episode, Dr. Ackerman and colleagues noted that fewer than 1% had ECG evidence of LQTS.

As you can see, the challenge is great. How do you identify the proverbial “needle in the haystack”? How do you detect the one fainter whose faint represents a sudden-death warning from the hundreds who have just an ordinary faint? Here, sleuth-like inquiry can be the difference between life and death. Typically, the common faint is preceded by a sensation of the “woozies”: feeling unsteady, dizzy, lightheaded, warm and bothered. By contrast, the LQTS-associated faint usually comes without warning!

For EMS responders and frontline physicians, the following warning sign should be heeded: All faints that occur during exertion or auditory startle must be considered dangerous until proven otherwise by a physician with expertise in conditions like LQTS or hypertrophic cardiomyopathy. Another vital warning sign is a positive family history of sudden unexplained death involving healthy persons <55 years of age, unexplained drownings or unexplained motor vehicle accidents. This detective work can save lives.

Medical Treatment

Risk-assessment tests for LQTS are still in the developmental stage. Persons with LQTS are placed into risk categories:

Low: Persons who are at low risk are advised to avoid certain triggers and exposure to medications that can aggravate the QT interval. Beta-blocker therapy may be recommended as well. A patient with no or minimal evidence of QT prolongation, no history of a LQTS event (asymptomatic), and without a significant family history is usually considered “low risk.”

Moderate: Persons who are at moderate risk are usually treated with beta-blocker therapy. A patient with a fainting episode attributed to LQTS is considered “at moderate risk.”

High: In general, patients are considered “high risk” if they have survived an out-of-hospital cardiac arrest or have had a cardiac event due to LQTS despite being on adequate beta-blocker therapy.

High-risk patients usually have been advised to receive an implantable cardioverter defibrillator (ICD) and may also be on daily medications, such as beta-blocker therapy. A pocket is made just under the skin to hold the ICD device. Lead wires travel under the clavicle and enter the venous system for access to the right chambers of the heart. The lead wire(s) are then “screwed” into the right ventricle (single-lead system) or both the right atrium and right ventricle (dual-chamber system). Standard placement is subclavicular, but the ICD is occasionally located submammary, under the pectoral muscle or in the abdomen (small children).

It is not necessary for a person with an ICD to call an ambulance when they have been shocked—only if they receive more than one shock or if they still do not feel well after being shocked. In other words, you may not see a person with an ICD until he/she is in full-blown cardiac arrest.

• Never place electrodes over the ICD. An ICD is typically located in the upper left chest, but a left-handed patient may request placement in the upper right chest. The ICD could also be in the abdomen or under the pectoral muscle.
• You should not have to use an AED on patients with an implanted defibrillator, unless the ICD is not functioning properly.

Ask the following questions if an ICD patient has received shock therapy:

1. What were you doing before shock therapy?
2. What symptoms did you notice before shock therapy?
3. At what time did the shock therapy occur?
4. How did you feel right after shock therapy?

If you are touching an ICD patient who is being shocked, you could feel a shock or tingling sensation, but it will not hurt you.

Persons with an ICD should carry a personal wallet card with a phone number for the manufacturer of the device and perhaps the clinic that installed the device. They should also wear a MedicAlert bracelet.

Information about diagnosis and treatment of this syndrome has increased substantially over the past decade. If you are called to respond to a patient who has collapsed, perform initial assessment per your local protocols. If, during assessment, you find a MedicAlert bracelet stating LQTS or ICD placement, contact medical control. AED treatment would not change.

ACLS Does Not Address Inherited LQTS Treatment

Recently, Dr. Ackerman and colleagues published a manuscript in Resuscitation calling for modification of the ACLS guidelines. The current algorithm can be deadly for patients with inherited LQTS. ACLS mentions an algorithm work-up for acquired LQTS, but does not state a different one for LQTS as an inherited condition. Specifically, the current emergency response algorithm to the identification of polymorphic VT or TdP calls for correcting abnormal electrolytes and use of overdrive pacing and isoproterenol. However, if congenital LQTS is known, isoproterenol would be contraindicated. Please refer to the published manuscript in Resuscitation and talk to your local medical director for changes to your local protocol.

Cardiac repolarization can be affected by acquired factors like many prescription drugs, electrolyte disturbances and underlying medical conditions such as: cardiac (blockages, sick sinus syndrome); arrhythmias (CHF, myocarditis, tumors); endocrine (thyroid problems, diabetes); neurological (head trauma, stroke, subarachnoid hemorrhage); and nutritional (alcoholism, anorexia nervosa, liquid protein diet, starvation).

Nearly 50 FDA-approved medications have potential QT-prolonging properties and can cause acquired LQTS. Exposure to such medications must be avoided, if at all possible, in people with congenital LQTS. As an EMS provider, you have access to only a few, such as ipecac syrup (which is often no longer recommended) and epinephrine. For more information about possible QT-prolonging medications, see www.qtdrugs.org or www.longqt.org.

My hope is that EMS can be one of the links needed to prevent sudden cardiac death in an otherwise healthy person. You may be called to respond to an incident where a young person has experienced an unexplained fainting spell, a seizure in someone who is not known to have this disorder or cardiac arrest, or you may be the one who captures the arrhythmia while monitoring a heart rhythm. You may be able to provide information to these families or the receiving ED physician, and hopefully thwart LQTS’s intent to claim another victim.

Additional Resources

Following are sources of information on arrhythmias, sudden cardiac death, implantable defibrillators and other related issues.

• Cardiac Arrhythmias Research and Education Foundation, Inc. (CARE): www.longqt.org
• Mayo Clinic: www.mayoclinic.org
• Sudden Arrhythmia Death Syndromes: www.sads.org
• American Heart Association: www.americanheart.org
• Cardiac Arrest Survivor Network: www.casn-network.org
• The Heart of Pediatric Electrophysiology: www.rhythmsofhope.org
• Hypertrophic Cardiomyopathy Association: 877/329-4262
• North American Society of Pacing and Electrophysiology: 508/647-0100
• National Institute of Health: www.nih.gov

Additional Reading

• Ackerman MJ. Consultation with the specialist: The long QT syndrome. Pediatr Rev 19:232–238, 1998.
• Ackerman MJ, Tester DJ, Porter CJ, Edwards WD. Molecular diagnosis of the inherited long QT syndrome in a woman who died after near drowning. N Engl J Med 341:1121–1125, 1999.
• Ackerman MJ, Tester DJ, Driscoll, DJ. Molecular autopsy of sudden unexplained death in the young. The American Journal of Forensic Medicine and Pathology 22(2):105–111, 2001.
• Guidant patient handbook.
• Homme JH, White RD, Ackerman MJ. Management of ventricular fibrillation or unstable ventricular tachycardia in patients with congenital long QT syndrome: Clarification of American Heart Association ACLS guidelines. Resuscitation 59:111–115, 2003.
• Khositseth A, Martinez MW, Driscoll DJ, Ackerman MJ. Syncope in children and adolescents and the congenital long QT syndrome. Am J Cardiol 92(60):746–749, 2003.