Could child's life have been saved?

A teen dies of a heart attack after symptoms of Marfan syndrome are not recognized.

By JOUNICE NEALY

© St. Petersburg Times, published August 13, 2000

ST. PETERSBURG -- On top of the grief of losing a child, Sharon Robinson Johnson was further unsettled by the news that her 14-year-old son died of a heart attack.

Johnson took him to the emergency room at All Children's Hospital in St. Petersburg when he began complaining of severe chest pain. He was discharged after a four-hour stay but still was in pain, Johnson said.

Days later, on April 26, Marcus Drayton died.

Now Johnson thinks he could have been saved.

An autopsy report released this month shows that Marcus probably had Marfan syndrome, a disorder that robs the elastic strength of connective tissue found in, among other places, blood vessels. Without elasticity, blood vessels only enlarge and eventually rupture.

Marcus' aorta tore and almost 3 cups of blood leaked into the sac around the heart, according to the autopsy report. The immediate cause of death was the buildup of fluid in that sac compressing his heart.

Had Marcus been diagnosed with Marfan syndrome, doctors could have operated to repair the aorta.

It's this diagnosis that the National Marfan Foundation wants emergency room physicians and medical staff across the country to consider more often.

The foundation has launched its Emergency Room Campaign, an assessment checklist used to help evaluate patients at risk for aortic dissection, in which the blood vessel simply tears open. About 200,000 people across the country are affected by Marfan syndrome, and nearly 10,000 people have an aortic dissection each year.

The foundation also is sending information to pediatricians and school nurses, said Eileen Masciale, a spokeswoman for the foundation, based in Port Washington, N.Y.

"A lot of people aren't diagnosed until it's too late," Masciale said.

That was the case for New York playwright Jonathan Larson, who wrote the Broadway musical Rent. Larson died of an aortic dissection in 1996 after being sent home from two New York City hospitals. Doctors didn't realize that he, too, likely had Marfan syndrome. An autopsy showed the classic symptoms.

On Good Friday, Marcus told his mother that his heart was beating fast. Johnson said she didn't detect anything and made him sit still.

"I thought he had gotten afraid," Johnson said. "He calmed down."

His grandmother thought it was gas and gave him some Epsom salts.

On Easter, Marcus began complaining of severe chest pain and asked his mother to take him to All Children's that night.

"You might as well sit back and get comfortable because I didn't like what I saw on the X-rays," Johnson said a doctor told her. But about 2 a.m., another doctor said everything was normal and to follow up with their family doctor, Johnson said. Marcus was discharged but still in pain.

On Tuesday, Marcus went to his own doctor, who was awaiting the X-rays. Johnson, who said Marcus' chest was swollen, said they were told to come back the next day. By then, the doctor would have read the X-rays and could tell Marcus what was wrong, she said.

That night, Marcus collapsed at home. He was pronounced dead early the next morning at Bayfront Medical Center.

Today, members at New Mount Olive Primitive Baptist Church in St. Petersburg will memorialize Marcus by planting a tree during a 10:45 a.m. service.

Officials at All Children's declined to comment specifically about Marcus' treatment. His doctor did not return telephone messages left Friday.

"When young people come to the emergency room complaining of chest pain, aortic dissection is not often thought about," said Dr. Alan Braverman, director of the Marfan Syndrome Clinic at Washington University School of Medicine in St. Louis.

"You have to do more than just a cursory physical exam. A chest X-ray can show an abnormality, but it's not perfect. You really must do another imaging study," Braverman said.

People with Marfan syndrome may have several abnormalities: tall stature with long arms and legs, long thin fingers and toes; loose joints; curvature of the spine; sunken or protruding chest; dislocation of eye lenses.

Marcushad only one outward symptom, his arm span was greater than his height.

Additionally, doctors may look for an enlarged aorta and a heart valve that doesn't properly close.

"How much you're affected varies from patient to patient," said Dr. Richard Martinez, a pediatric cardiologist and chief of medical staff at All Children's Hospital. But he said once the diagnosis is made, there is cardiac, ophthalmic and genetic follow-up and treatment of symptoms.

Sometimes, the diagnosis begins with an eye exam.

John Lamberti of Largo and Gail Page of Treasure Island both had Marfan syndrome diagnosed as the result of dislocated lenses in their eyes.

Lamberti, 37, has had two artificial heart valves implanted and sees a cardiologist regularly. One retina has detached; the other has torn, which is a secondary symptom of the disorder.

He wears contact lenses and eyeglasses.

But he has taken charge of his health now that he knows more about Marfan. He and Page are both listed as local resources by the National Marfan Foundation.

Page, now 39, also has had open-heart surgery. She even gave birth, despite having a life-threatening aneurysm.

"I'm doing very well today. There's medications that I have to be on. I have to very careful activity-wise," Page said, but added "I'm still very fortunate."

Both have had their children examined.

Lamberti's infant daughter is suspected of having Marfan, but Page's son is not.

"It can be passed down from parent to child. A person who has Marfan syndrome has a 50 percent chance to pass it down," said Dr. Rebecca Sutphen, a clinical geneticist at All Children's who evaluates Marfan patients' family histories.

She said that 75 percent of Marfan cases are inherited.

Johnson said that her other son, Marquel, is being examined to see whether he has Marfan syndrome.

She wishes the same tests would have been done on Marcus.

"He could have had this when he was a child," she said.

What is Marfan syndrome?

Marfan syndrome is a disorder of connective tissue caused by a mutation in a gene that provides elasticity. Over time, the tissue stretches and eventually tears. Oftentimes, the eye lens will dislocate. Marfan can be fatal if not caught in time because the aorta can rupture. In most cases, Marfan is inherited.

Signs of Marfan

Disproportionately long arms and legs

Long, narrow face, deeply set eyes, shallow cheek bones

Loose joints

Flat feet, long toes

Noticeably sunken or protruding chest

Stretch marks, absent pregnancy or weightlifting

Dislocated lens in the eye

Collapsed lung

To learn more

Call the National Marfan Foundation at (800) 8-MARFAN (800) 862-7326) or visit its Web site at www.marfan.org

- Source: National Marfan Foundation

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