Directing Rhythm of the Heart
The cardiology team at The Nebraska Medical Center, leaders in the diagnosis and treatment of arrhythmias, helps an Iowa family live with a rare, genetic heart condition that had been taking the lives of their family one by one.
For nearly 25 years, a mysterious and rampant malady spread through the Smith family in the small farming community of Bronson, Iowa.
One by one, Bob Smith lost a sister, a brother and several cousins. All of them died suddenly and without explanation. First, in 1966, his 22-year-old pregnant sister collapsed in an elevator and died. Two years later, his eight-year-old cousin died in his sleep. This was followed by the death of the boy's 13-year-old sister, who also died in her sleep several years later. Then in 1982, Bob’s youngest brother collapsed while the two were bowling. He was resuscitated but fell into a coma and died three days later. “It was devastating,” says Bob’s wife, Debra. “He was very young when Bob and I married and spent a lot of time with us. He was like our own son.”
All the while, the Smiths were busy building a family of their own and at the time of Bob’s brother’s death, they had four seemingly healthy boys. Silently, Debra worried, would her boys suffer the same fate? What was this unexplainable syndrome that was taking the lives of their loved ones? Was it a brain or heart problem, the family wondered. They called and wrote to doctors, but all of them rejected their theories.
In the meantime, Debra kept a watchful eye over her boys, always counting them to ensure they were all there — when the boys took showers, when they left for school and when they came home. “One of my prayers every Sunday was asking God not to take one of my children,” says Debra.
Then, in 1987, there was a break in the Smith family mystery. Bob’s cousin, a sibling of the two young children who had died in their sleep, suffered a series of fainting spells. Her husband took her to the hospital where she was diagnosed with a genetic heart disorder called long QT syndrome, associated with sudden and unexpected fainting, seizures or death. The QT refers to the interval time recorded on an EKG in which the heart is at rest. In individuals with long QT, the QT interval is prolonged, which can cause the heart to go into arrhythmia. When this occurs, the heart is unable to effectively pump blood to the body and can result in cardiac arrest or sudden death.
While the diagnosis came as a relief to the Smith family, it also presented a new set of fears. Long QT was a congenital and hereditary disorder that carried a 50 percent risk of inheritance. The Smiths now had five boys of their own who ranged in age from 4 to 15 years old.
The Smiths acted quickly, and within a week, Bob and their five boys underwent diagnostic tests at a hospital in nearby Sioux City, Iowa. The results were difficult to swallow. Bob and four of his five boys were diagnosed with long QT. “Up until then, we had no idea that they carried the gene,” says Debra. “The worst part of it, they still didn’t know an awful lot about the disease. The doctors didn’t even know how to treat it.”
But what they did tell the Smiths was unsettling. “Without treatment, there was an 80 percent death rate before the age of 25,” recalls Debra. “The doctors in Sioux City called Dr. Moss in New York to find out what to do.”
Arthur Moss, MD, is a professor of cardiology at Rochester University in New York and was one of the leading experts in long QT at the time. Over the years, cardiologists at The Nebraska Medical Center have jointly published manuscripts with Dr. Moss, have partnered with him in a National Institutes for Health (NIH) grant and continue to partner with him on research and patient care.
Dr. Moss recommended the boys begin taking beta blockers — the standard of care for long QT then. The family returned to their farmhouse in Bronson, Iowa, determined to resume their lives as they were before long QT.
For 10 years, the boys lived with no problems, while Mom quietly worried. “The boys all slept upstairs and Bob and I had a bedroom on the first floor,” recalls Debra. “In the morning, they would file downstairs one by one to take turns taking their showers.
“I remember lying in bed counting each boy as he came down the stairs until I had counted all five.
“Occasionally, the boys would complain that one of the brothers wouldn’t get up. I would go into a panic and run upstairs to check. I’d tell the other boys — stay downstairs. I didn’t know what I was going to find and I didn’t want them to experience that.”
Aside from living with the fear of the unknown, the heart condition did not slow down the Smith boys. “They were all very active and athletic boys,” says Debra. “They were not ones to sit in front of the TV all day. All of the boys wrestled and all but one of the boys wrestled on the varsity team at Bronson High School all four years of high school.”
Then in 1997, Debra’s worst fears began to come to fruition. Her youngest son, 13-year-old Gavin, suffered a fainting spell. A pacemaker was put in by their cardiologist in Iowa City. Seven months later, 17-year-old Austin went into cardiac arrest during wrestling practice. His coach initiated CPR. Austin had to be resuscitated twice before the ambulance arrived. His doctors recommended he have an internal cardiac defibrillator (ICD) implanted and referred the family to John Windle, MD, electrophysiologist at The Nebraska Medical Center.
Dr. Windle, professor and chief of Cardiology at the University of Nebraska Medical Center (UNMC) and medical director of Cardiovascular Services, is among a team of six electrophysiologists in the electrophysiology section of cardiology at UNMC.
Electrophysiology is the science of diagnosing and treating the electrical activities of the heart and deals primarily with arrhythmias. Dr. Windle explains it by dividing the function of the heart into three mechanisms: pumping, plumbing and electrical. Heart failure specialists deal with the pumping, interventional cardiologists deal with the plumbing and electrophysiologists deal with the electrical system.
The electrophysiology program at The Nebraska Medical Center is the largest and the most experienced program in the region with a range of specialized expertise that allows the department to diagnose and treat all types of arrhythmias and genetic conditions. “We get referrals from across the state and throughout the region,” says Dr. Windle. “In many cases, we get patients who no one else knows how to help.”
Dr. Windle completed medical school and residency at UNMC and completed his cardiology and electrophysiology fellowships at the University of Indiana in Indianapolis. When Dr. Windle joined the medical staff at UNMC in 1985, he became the first adult electrophysiologist in the state. He joined partner John Kugler, MD, the state’s first pediatric electrophysiologist. Before Dr. Windle came, Dr. Kugler had been running the electrophysiology program on his own since 1979.
Dr. Windle says he welcomed the opportunity to come back to The Nebraska Medical Center. “The hospital was very supportive of the program, and I liked the idea that there was a lot of opportunity for both research and clinical practice.”
At the time, the field of electrophysiology was still in its early infancy. With both a pediatric and adult physiologist on board, the UNMC program grew quickly. Since then, the electrophysiology department has added four electrophysiologists: Arthur Easley, MD; Dan Anderson, MD; and John Scherschel, MD. They specialize in complex diagnostic mapping of arrhythmias and surgical ablations. Also on staff is Chris Erickson, MD, who runs the Genetic and Arrhythmia Clinic with Dr. Windle.
“We have more than 100 years of electrophysiology experience among our staff that provides a balance between a broad general knowledge of the field with specialization in various areas,” says Dr. Windle. Members of the department pride themselves in providing research to advance the field, as well as providing the latest technology and treatments from genetic identification to advanced diagnostic techniques and treatment modalities.
Over the last 25 years, advances in the field of electrophysiology have been numerous and significant. “The mortality rate after the first life-threatening arrhythmia episode is 90 percent,” says Dr. Windle. “Back then (25 years ago), we usually saw people after they had experienced a life-threatening event. Even then, we didn’t have good strategies to treat them if they survived. Our goal today is to find people at risk for life-threatening arrhythmias before they experience a life-threatening arrhythmia.”
The introduction of anti-arrhythmia drugs, surgical ablation surgery and the development of implantable cardiac defibrillators has reduced the mortality rate for arrhythmia patients significantly. In the early 1980s when most patients received little or no treatment, patients had a 50-50 chance of surviving a year, explains Dr. Windle. In the 1990s, five-year survival for individuals who received treatment increased to 50 percent. Today five-year survival rates are 80 percent or more.
Identifying those at greatest risk for life-threatening arrhythmias is one of our biggest challenges, says Dr. Windle. Symptoms of arrhythmia can vary from no symptoms at all to a slight feeling of a skipped or fluttering heartbeat to fainting, shortness of breath and dizziness. Some people can live for years with an arrhythmia condition and not know it.
The creation of the Genetics and Arrhythmias Clinic at UNMC in 2003, the only one of its kind in the Midwest, is helping physicians identify high-risk patients. Dr. Erickson, who is director of the Genetics and Arrhythmia Clinic, specializes in pediatric and adult electrophysiology, genetics and adult congenital heart disease. Dr. Erickson attended medical school and completed a pediatric residency at UNMC. He completed a pediatric cardiology fellowship at Texas Children’s Hospital in Houston and an electrophysiology fellowship at Boston Children’s Hospital. From 1990 - 2001, he practiced electrophysiology at Arkansas Children’s Hospital and the University of Arkansas for Medical Sciences before he joined the staff at UNMC and Children’s Hospital & Medical Center.
The Genetics and Arrhythmia Clinic is held on Fridays at either The Nebraska Medical Center or Children’s Hospital & Medical Center. The clinic provides screening and treatment for patients and families with genetically-based arrhythmias and most cardiomyopathies. Cardiomyopathy is a disease of the heart muscle often associated with other heart function problems such as arrhythmias. Some of the most life-threatening arrhythmia conditions involve those that are inherited or genetically-based, says Dr. Erickson. These include cardiomyopathies and channelopathies, including long QT syndrome. These individuals may or may not have symptoms, and rarely the first symptom is sudden death.
“We’re finding that some individuals are either being diagnosed with a condition they don’t have or are missing a condition they do have and are therefore not receiving appropriate treatment,” says Dr. Erickson. “Even when they are diagnosed correctly, in many cases other family members are not being tested and treated. Early identification is very important in these genetic conditions. If a parent has one of these conditions, his or her siblings or children have a 50 percent chance of inheriting the same genetic variant — often producing the same disease. With no treatment, a few will not make it past childhood.”
Molecular genetic testing is performed by taking a blood sample, which allows doctors to identify genetic defects associated with these conditions. With this information, Dr. Erickson and his staff can confirm the exact diagnosis, test other family members for the genetic defect, assess the risk of sudden death, implement appropriate treatment measures and make appropriate lifestyle restrictions when necessary, says Dr. Erickson.
Long QT syndrome is one of those conditions in which early diagnosis is crucial. The risk of sudden death among teens is considerably higher than in older adults. In addition, long QT syndrome is believed to be responsible for up to 10 percent of sudden infant death syndrome (SIDS) deaths, says Dr. Erickson. If we know a parent has this condition, we can start genetic testing of these babies as soon as they are born and, in special cases, even prenatally. If we find they have one of the genes, we can start them on medications or even put in a pacemaker. One baby identified with a severe case of long QT started medication and had a pacemaker put in at two weeks of age, he says.
“Molecular genetics has made a huge impact on our ability to understand channelopathies and cardiomyopathies and appropriately diagnose families with inherited heart conditions,” says Dr. Erickson. “It eventually will play a large part in identifying and treating these disorders in the future. However, molecular genetics will never replace the importance of a thorough clinical evaluation by someone familiar with these uncommon conditions. It is possible for a patient to have a positive genetic test based off a similar genetic ‘variant’ found in a relative with a cardiac disease but not have the same or any cardiac condition. This is where combining the clinical evaluation with molecular genetics is vital.”
Having physicians with expertise in both pediatric and adult electrophysiology and genetics, offers another advantage to patients that allows for greater continuity of care and a multi-disciplinary approach. The Genetics and Arrhythmia Clinic can assess an entire family, establish a pedigree and follow both the children and adults through their lifetime with the same doctors, which ultimately improves care, notes Dr. Erickson.
Dr. Kugler is one of those staff members. Dr. Kugler generally begins following patients as babies or children and continues to see them through adulthood.
Trained in pediatric electrophysiology, Dr. Kugler was one of the first 10 trained pediatric electrophysiologists in the country, and he was the first in the region when he came to UNMC in 1979. He attended medical school and completed a residency at UNMC. That was followed by a pediatric cardiology fellowship and electrophysiology fellowship at Baylor Texas Children’s Hospital.
Dr. Kugler was first exposed to the field of electrophysiology by one of the early pioneers in the field, electrophysiologist Paul Gillette, MD, who practiced at Baylor Texas.
“It was a frontier area at the time,” says Dr. Kugler. “Dr. Gillette piqued my interest in this field and I became his first fellow.”
As the only electrophysiologist in the region when he joined the UNMC staff, Dr. Kugler quickly began seeing a steady stream of both pediatric and adult cases until the arrival of Dr. Windle six years later. With Dr. Windle on board, Dr. Kugler returned his focus to pediatric electrophysiology and congenital heart disease. Many of the young patients he follows have been patients he has been seeing since birth or early childhood. “At one time, many of these patients didn’t make it to adulthood,” he says. “But with advances in surgery, medications and heart assist devices, many are now living well into adulthood.”
Unfortunately, many congenital heart disease patients enter adulthood with complex complications that have developed over the years due to their disease. Dr. Kugler specializes in managing their condition and providing specialized care and treatment therapies throughout their lifetime. “We can also diagnose some conditions intrauterine and provide interventions even before the baby is born,” he says. Dr. Kugler and seven pediatric cardiologists are supported by cardiothoracic surgeons Kim Duncan, MD, and James Hammel, MD, who perform congenital heart disease surgeries to repair congenital heart defects.
When the Smith family came to Dr. Windle, he and his team had been implanting internal cardiac defibrillators for 10 years.
In 1987, the electrophysiology team was the first to implant a defibrillator in a Nebraska patient. “The introduction of defibrillators in treating heart conditions and the subsequent advancements in the technology have been huge,” says Dr. Windle.
A defibrillator works by responding to abnormal life-threatening arrhythmias. Once the defibrillator detects an abnormal arrhythmia, it sends an electronic signal to the heart, which shocks the heart into returning to a normal heart rhythm again. “It is like a rescue squad for the heart 24 hours, seven days a week,” says Dr. Windle.
“As soon as I met Dr. Windle, I knew this was a man I understood and respected,” says Debra. “We felt very secure in his hands.”
Dr. Windle performed the defibrillator surgery on Austin. Shortly thereafter, doctors recommended that Austin stop wrestling for fear that the wires might break during a match and cause electrocution.
“It was heartbreaking for Austin when he got the news,” recalls Debra. “But there was nothing we could do.”
Austin’s younger brother, Gavin, on the other hand, was allowed to continue wrestling because he had a pacemaker rather than a defibrillator, which posed less risk for complications. During his senior year, Gavin was recognized for achieving 100 wins with an implantable pacemaker.
It was one of the few silver linings for the Smith family over the next few years. In December 2005, the Smith’s second son, Brandon, had a cardiac incident that left him unconscious on the basement floor. The Smiths returned to The Nebraska Medical Center where Dr. Erickson implanted a defibrillator. Soon after, it was decided that all of the boys needed a defibrillator, including their oldest son, Jason. Jason’s three children were also genetically tested and two of the three were found to carry the long QT gene. Both his 6-year-old son and 11-year-old daughter received defibrillators.
“The surgeries never got easier,” says Debra. “The worst part was when they had to put them in a rhythm and then shock them back.”
Bob, who is now 58, has never received a defibrillator. “They said that men over 40 who had never had any problems probably didn’t need a defibrillator,” says Debra.
Today the boys still return to The Nebraska Medical Center for care. “They were given the choice to be seen by a doctor in Sioux City or stay with Dr. Windle and none of them even batted an eye,” says Debra. “They just don’t feel comfortable going anywhere else. It’s a scary thing to live with. So you really need to feel comfortable with your doctor and feel that you are receiving the best care possible.”
“We’ve always been very happy with the care we’ve received at The Nebraska Medical Center,” says Jason. “They really seem to care. And when there have been problems with our children, Dr. Erickson always follows up with us by phone, sometimes several times, to make sure they are okay.”
For the most part, their sons’ lives have been fairly normal. “There are a few things they can’t do, like working on their cars” (a car’s magnetic fields could disrupt the function of the pacemaker), but other than that, they seem to be doing just about everything else they want to do,” says Debra. Four of the sons are married and have produced 10 grandchildren. Just two of the grandchildren have been diagnosed with long QT.
When genetic testing became available in the mid-90s, the Smiths had their blood tests sent to a lab in Rochester, N.Y. It took two years to get the results, but it confirmed what they already knew — four of five of the boys have genetic long QT. Since the initial genetic studies, they have now been able to trace long QT syndrome to Bob’s sister, his father and his grandmother, says Smith. Additional testing reveals that it may even extend back to several generations in Germany.
Debra says she still keeps a watchful eye on her sons but not to the extent she used to. All of the boys but Gavin (who still lives at home) are now married and have built homes within seeing distance of the Smith’s farmhouse on their 72-acre corn and soybean farm. “We’ve always been a close-knit family, but I think this heart condition strengthened the bond between all of us even more,” says Debra. “We all watch over each other and help each other out.”
Atrial fibrillation the most common arrhythmia
With our growing elderly population, arrhythmia is a condition that is on the rise. Each year, arrhythmias affect approximately 3.5 percent of the population or more than 4 million primarily older Americans each year. For some individuals, arrhythmias will never present a problem. However, for others, unmanaged arrhythmias can lead to cardiac complications or even cardiac death. Treatment of arrhythmias is usually required only if the arrhythmia is causing significant symptoms such as shortness of breath or fainting or if it’s putting a patient at risk for more serious cardiac complications.
Atrial fibrillation is the most common form of arrhythmia and occurs in about 1 percent of the population over 60 years old and in as many as one in 20 people over 80. It is also the most difficult to treat, as the arrhythmia is more erratic and often occurs from multiple sources in the heart. The Nebraska Medical Center’s electrophysiology department treats approximately 300 patients a year with
Advanced electrical mapping equipment used at The Nebraska Medical Center has had a significant impact on doctors’ ability to determine the origin of complex arrhythmias like atrial fibrillation. The 3-D mapping system literally provides doctors a multi-dimensional visual map of the heart, allowing them to pinpoint the origin of an arrhythmia with more precision than ever before.
The 3-D mapping can record some 3,000 points of electrical activity within the heart as opposed to finding these one step at a time, producing a success rate of 90 to 100 percent.
Once the origin of the arrhythmia has been pinpointed, the first line of treatment normally involves medications. If these are not effective, doctors can treat the arrhythmia using one of two surgical techniques -- cryoablation or radiofrequency catheter ablation. These techniques can eliminate arrhythmia in many individuals by destroying the small spot of heart tissue responsible for the arrhythmia.
The Nebraska Medical Center has been a leader in these surgery options, each of which offers its own unique benefits. The procedures are performed by Drs. Kugler, Erickson, Easley, Anderson and Scherschel.
Radiofrequency catheter ablation uses heat to burn tissue near the source of the arrhythmia and is the preferred procedure when larger areas need to be burned. “This procedure provides another option for individuals with severe, uncontrollable symptoms that have not responded to medications,” says Dr. Kugler. “It has a 75 to 98 percent success rate, depending on the age and general health of the patient.”
Cryoablation uses a freezing method, as opposed to heat, to disable arrhythmias and provides more precision in treating the lesion. This freezing technique, also called cryotherapy, preserves normal electrical conduction by freezing tissue or heart pathways that interfere with the normal distribution of the heart's electrical impulses. Unlike radiofrequency catheter ablation, if the technique does not appear to be producing positive results, the cardiologist can stop the process early and reevaluate the source of the arrhythmia without permanent effect on the heart.
Arrhythmias that cannot be treated with these methods may be candidates for a pacemaker or an implantable cardiac defibrillator.
Genetics holds the future to the treatment of arrhythmia, says Dr. Windle. “I think we are going to see more tailored medications and treatments that are specific to a patient’s genetic abnormality.” Dr. Windle says that he expects The Nebraska Medical Center, which is participating in national studies for genetics and medications, to play an increasing role in those advancements.