By Stu Durando
The disease that became the focus of Dr. Keith Mankowitz's cardiology practice was a medical enigma 11 years ago when he opened a center dedicated to its research and treatment.
The condition known as hypertrophic cardiomyopathy has been so misunderstood that it has gone by 75 names and been misdiagnosed in a multitude of ways.
It makes sporadic headlines only when seemingly healthy athletes such as Hank Gathers, Thomas Herrion and Jason Collier die unexpectedly from its effects. Yet the true impact comes more routinely."It's becoming more and more recognized that this is a significant condition," Mankowitz said. "It's much more common than we thought it was."
Mankowitz, a native of Johannesburg, South Africa, started the Washington University Hypertrophic Cardiomyopathy Center in 1997. With the aid of a grant, he is increasing exposure for the center at a time when research shows sudden deaths among athletes are five to 10 times more prevalent than previously thought.
Additionally, Mankowitz is working with Biomedical Systems, based in Maryland Heights, to start a pilot screening program this fall for high school athletes with the goal of taking the program statewide.
Last year, Adam Litteken, 16, a student at Francis Howell Central High School, died while playing hockey. It was determined that he suffered from undetected HCM.
At least three other school-aged kids in the St. Louis area have died without warning in the past two years. Damien Nash, who grew up in St. Louis and played for the Denver Broncos, died last year after playing in a charity basketball game.
A 25-year study by the Minneapolis Heart Institute Foundation showed that a young athlete dies unexpectedly every three days in the United States.
"It's only in the last few years that people realize it's really specialized, and you need people very familiar with the condition to take care of HCM," Mankowitz said. "Most cardiologists don't have enough training. Plus, it's an evolving field where there are advances all the time."
Sudden death among athletes, most frequently basketball and football players, has focused attention on HCM. But anyone can be susceptible.
HCM is a genetic disease that causes the heart to thicken abnormally and is estimated to occur in one in 500 people. Diagnosis can be difficult; patients often are told they suffer from other disorders.
Yet clinics like the one run by Mankowitz are uncommon. His is one of 11 in the United States and 14 worldwide that are recognized by the Hypertrophic Cardiomyopathy Association as centers of excellence in treating the condition.
He focuses on patients 16 and older, but children can be tested and diagnosed at younger ages, especially if a family member dies from HCM or is known to have the disease. The best test is an echocardiogram, which is an ultrasound of the heart. It can cost around $1,000.
The cause of Nash's death was not determined, as several other underlying heart conditions can cause sudden death. But HCM is the culprit in 36 percent of sudden deaths among athletes 35 and younger. A standard physical usually is not enough to uncover the condition.
Litteken's mother, Ellen, has known for years that she is living with a heart condition known as mitral valve prolapse, which does not impact her daily life. But it gave the family pediatrician reason to take a harder look at Litteken's two children. Still, no hints of HCM were found before Adam's death.
The rest of the Litteken family has since been tested for HCM, with all results coming back negative.
"We had echocardiograms done, and it's something in hindsight I would have liked for Adam to have done," Ellen Litteken said. "We would have found it. He had no symptoms whatsoever."
Symptoms that might hint at HCM include shortness of breath, lightheadedness, fainting, chest pain, palpitations and fatigue. But sometimes symptoms are not evident.
Dr. Joel Hardin, who lived in St. Louis for 30 years, has been involved in a program in New Jersey that provides free screenings, similar to the program Mankowitz hopes to begin. Lisa Salberg, founder of the HCM Association, said those screenings can be misleading because they are usually too limited to detect HCM. They generally involve an electrocardiogram, not the more revealing echocardiogram.
Hardin countered that any chance to find the disease is worthwhile.
"You start with the realization you're just scratching the surface," he said. "It gives you a clue. When an EKG is abnormal, there's an obligation to explain why it's abnormal."
Mankowitz hopes to start screenings at two high schools in the fall. Pat Barrett of Biomedical Systems said he is prepared to provide electrocardiogram machines to every high school in Missouri next year if school districts approve.
They won't diagnose the disease but can help reveal a potential problem.
Over the years, misdiagnosis of HCM has been common, Salberg said. Her organization surveyed more than 1,100 HCM sufferers and found a host of misleading diagnoses.
People were told they had asthma (19 percent), anxiety attacks (17.3 percent), depression (17.4 percent) and innocent heart murmurs (50.4 percent) along with other ailments, including acid reflux.
"What spurred my interest was parents who had lost children," said Salberg, who was diagnosed with HCM after her sister died of the disease. "I started noticing trends. I'd say, 'Did your child have any diagnosis?' They would say, 'Just a little asthma.' If I heard it once, I heard it 10 times. Some people were diagnosed with more than one thing."
Mankowitz hopes to educate more physicians so the condition can be detected before it's too late.
He led a conference in St. Louis in April with speakers from Washington and New Jersey. More recently he spoke at a conference with an audience of pediatricians. He makes himself available for speaking engagements without charging and has distributed literature to doctors.
"We try to make other physicians in the Midwest more aware and direct them to send us patients," he said. "Reading an echocardiogram is not straightforward and the diagnosis isn't. You have to put a puzzle together and know how to recognize some features. It really is an art."
People who are found to have HCM are told not to take part in many sports because burst exertion can trigger sudden death. Undetected or misdiagnosed, the first sign of a problem can be death.
Shelley Rosenmiller of St. Charles was diagnosed with HCM and had a surgical procedure in November. She realizes she may have been fortunate.
"I tried to do my aerobics and all of that, and I shudder to think that I could have pushed myself too far," she said. "One thing I could never do was distance run. I would get winded. I've often wondered if it could have been that I had this existing condition."
Meanwhile, Ellen Litteken said her family plans to set up a foundation in Adam's name. She is unsure where the money would be donated but is interested in talking to Mankowitz about increasing awareness.
She said, "If we can help one other kid that would be awesome."