When you ask me what Long QT Syndrome is, I typically answer as follows:
“It’s an abnormality in the electrical workings of the heart. For me, intense emotion or exercise can cause my heart to go into ventricular fibrillation, which means my heart would just quiver instead of pump. (I demonstrate quivering and pumping with my hand as I say this.) When blood is not pumped through your body, you immediately pass out. Then, either your heart starts back on its own, or someone takes defibrillator paddles to your chest and shocks it into working, or you die.”
At this point, I probably have your attention.
How do you get Long QT Syndrome?
I was born with it. I inherited it from my mother, but she didn’t know she had it. When one parent has a gene for Long QT, there is a 50% chance that each child born will inherit it. My mother was the only one of her four siblings to inherit the gene. She then passed it to three of her four offspring. My children hit the odds, as four of the eight now carry it. My brother’s children weren’t so lucky, since all four received the gene.
People who aren’t born with Long QT Syndrome can develop the condition. Particular drugs or a deficiency of potassium or magnesium can lengthen the QT interval. This form is called acquired Long QT. The acquired form can go away, if the underlying cause is corrected. There’s not a way to remove the inherited form, yet.
What are the symptoms?
In my first piece, 21 Days in my Pajamas, I described the symptoms I experienced as a young adult. My first episode, however, was at about age 10. I was swimming with some friends, when I became unconscious. They said I was just floating under water, and they thought I was playing as they poked me. I came to on my own. I remember another incident when I was diving for pennies in about five feet of water, right next to the life guard stand. He did not notice me taking a nap at the bottom of the pool. Again I came to on my own, and somehow got myself to the side. That was remarkable, as you have absolutely no strength when you recover from an episode. A third time occurred the first day of swimming lessons. We were to swim across the pool to demonstrate our level of ability. I dove in, but woke up on the other side of the pool receiving mouth to mouth resuscitation. That was an exciting day for the life guards. Are you beginning to see the pattern? I experienced one other episode outside of the water. I was playing softball at my dad’s work picnic, when I collapsed after running all out to second base and stopping suddenly. Sound familiar to my episodes as a young adult? When I recognized what was causing me to faint, I stopped doing those activities. I wasn’t involved in sports other than bowling, so limiting physical activity wasn’t a big change. For the next twelve years I was asymptomatic.
My brother collapsed 33 times. I told this to a prominent doctor a few years ago, but he did not believe me. I testify that miracles do still occur. I’m a big fan of medical science, but I also know who is ultimately in control.
All my brother’s events were during vigorous exercise, with a few in water. He was an athlete who played football and baseball and any other sport in season. I’ll have to ask him about why he continued to participate. I would assume the desire to compete in athletics pushed him forward. It’s not fun hitting the ground, but we didn’t think it was life threatening.
Fainting without any warning signs, seizures, and sudden death are the symptoms of Long QT Syndrome. Many people have no signs or symptoms even though they carry the gene. Others have experienced multiple episodes, but probably not as many as my brother. Sadly, for some, their first episode results in death. This varied expression of symptoms is called penetrance.
What causes someone to have an episode?
The triggers for an episode are linked to the type of Long QT Syndrome. There are over 15 different types, and they are labeled numerically based on their order of discovery. Type 1, 2, and 3 are the most common forms.
I have Type 1. It is primarily triggered by exercise, and the majority of events occur in water. I’d say my brother and I are classic examples.
Type 2 is triggered by emotion or noise. Most often these events occur during rest or sleep. Now that sounds really scary to me. Alarm clocks, smoke detectors, or phone calls in the middle of the night could trigger a cardiac event.
Type 3 episodes predominantly occur during sleep. This one is really hard for me to grasp. I could avoid certain forms of exertion. I think I could eliminate some forms of startling noises. But how do you stop sleeping? When you think you have a challenge, realize that there is somebody else facing something tougher.
These are just three examples, but you can understand why it is so important to know the type of Long QT Syndrome you have.
What does “Long QT” mean?
An EKG tracing represents the electrical conduction in the heart as it is beating. Each complete beat is shown by a pattern of five waves, labeled using the letters P to T. The distance measured between the Q position to the end of the T wave, is called the QT interval. The T-wave represents the hearts recovery from a heartbeat. A longer QT interval indicates a slower recovery process for that heartbeat. This delayed recovery has the potential to interfere with the next heartbeat, and can result in the heart just quivering instead of pumping.
How do you diagnose Long QT Syndrome?
My parents took me to the doctor when I was thirteen years old to find out why I collapsed. I have an EKG from that visit which shows a slightly prolonged QT. They also did an EEG and a few other tests. This was in 1971, and at that time Long QT Syndrome was not a well known or defined condition. The doctors sent me home, and told my parents that I hyperventilated.
My parents also took my brother to the doctor. Imagine the frustration they felt at their kids collapsing. When the doctors run all kinds of tests, and tell you your children are hyperventilating, what do you do? If my parents had known their children were in cardiac arrest, they would have taken different action.
My second evaluation occurred in 1985, and was also initiated because I had an unexplained loss of consciousness. An EKG was performed and again showed a long QT interval. This time Long QT Syndrome was more widely known, so a more accurate diagnosis was possible.
One measurement on an EKG is not enough to give a definitive diagnosis of Long QT Syndrome. It is only one tool used in the process. Some people with a longer than normal QT measurement may not possess the syndrome, while others with a normal looking QT interval may have it. For a clearer picture, a doctor will consider family history of sudden death or unconsciousness, more definitive tests such as an exercise EKG, and genetic testing.
Genetic testing confirms the type of Long QT Syndrome. A negative genetic test does not always rule out Long QT Syndrome, as there are genes not yet discovered that may be contributors.
Once my diagnosis was confirmed, I called my brother and told him to go to a doctor and tell the doctor he had Long QT Syndrome. Next I began contacting my immediate and extended family members to tell them what I had learned, even if they had never experienced an episode of unconsciousness. My Long QT Syndrome was inherited, so my family members could have also inherited the gene.
Imagine how your world would be rocked if you had an EKG done for a physical or some other reason, and were told you had a prolonged QT interval. You’ve never had an event of unconsciousness, yet a doctor is telling you to be further evaluated for this syndrome where people drop dead without warning.
A correct diagnosis is tricky, but absolutely essential. It is critical that the right testing and doctor is involved. What is known today about Long QT Syndrome is far advanced from what was available in 1971 or 1985. You just have to know where to go for answers.
How do you treat Long QT Syndrome?
Your brain is probably on overload by now. We’ll save this topic for my next Long QT Syndrome post on 22 June 2016. Thanks for reading and please comment. I hope this was helpful.