Parents' perseverence helps in diagnosis of baby's rare malady

News  The Stamford Advocate (Stamford, Connecticut). Monday, 22 December 2008.

The Advocate Staff
Posted: 12/22/2008 09:50:34 AM EST

Their pediatrician, thinking it might be caused by acid reflux, prescribed medication. After several weeks, the crying largely ceased. At 3 months, Matthew began wheezing. The pediatrician diagnosed bronchiolitis, an inflammation of the small passages in the lungs caused by a virus. Bronchiolitis can be a precursor to asthma, which is common in Anna's family. The doctor told her Matthew would probably have the airway disease when he got older and prescribed medicine to be administered in aerosolized form through a nebulizer.

Several pediatricians and changes of medicine later, the Nelsons were sent to the hospital for blood tests and a chest X-ray. The radiologist noted that the baby's heart was slightly enlarged, which disturbed Anna. Doctors, she says, assured her it was nothing to worry about.

Jason departed on his long-planned business trip, leaving Anna to juggle an active 2-year-old and a sick 4-month-old who seemed to be worsening. Matthew wasn't interested in eating and wheezed continuously; Anna was going to the pediatrician every other day.

I was exhausted and getting maybe two hours of sleep at a time, she recalls, saying that she lost it when the office balked at telephoning Children's for an appointment. I called Jason and said, 'I don't know what to do and I need help.'

At the Fairfax outpatient center the next week, both a nurse practitioner and a pulmonologist agreed that the nebulizer treatment wasn't helping. After listening to the description of Matthew's illness and scrutinizing the X-ray that had ruled out pneumonia, the pulmonologist asked Martin, the cardiologist, to look at the baby.

Anna remembers that Martin chatted briefly with them, then just stared at the baby for two minutes. I thought, well, that's weird. Jason remembers Martin asking three questions: Did Matthew scream a lot when he came home? Did the screaming stop after a while? Is he getting better or worse?

Martin then scooped up the baby, saying he'd be back shortly. Martin recalls he was all but certain he knew what the problem was, but when he confided his suspicion to his colleagues before tests confirmed it, Everyone looked at me like I was a little bit insane.

Less than 10 minutes later he reappeared, looking somber but calm.

I'm going to be blunt, he told the Nelsons, according to Jason's recollection. Your son does not have asthma. He's had a heart attack and is in heart failure, and he's going to have surgery within 24 hours. Matthew had cardiac asthma, wheezing associated with heart failure. The seizure he'd had during circumcision was actually a heart attack. Martin explained that a team was en route to whisk the baby to Children's Hospital, where Richard Jonas, the cardiothoracic pediatric surgeon who had operated on Martin's nephew for the same problem, would try to save the baby's life.

It was just unbelievable, Jason recalls.

Matthew's problem, diagnosed by echocardiogram and apparent on a second X-ray, was precisely what Martin had suspected: an anomalous left coronary artery from the pulmonary artery, or External link ALCAPA. The extremely rare condition occurs early in fetal development when the left coronary artery is connected to the pulmonary artery, which carries oxygen-poor blood, instead of to the aorta. Deprived of sufficient oxygen, the heart starts to die, leading to a heart attack, according to the federal government's Medline information service.

Left untreated, about 90 percent of babies born with the condition do not survive their first year. Of the 500 pediatric heart patients seen annually at Children's Hospital, only two or three have ALCAPA, according to Martin. With prompt treatment, these kids can have excellent outcomes, he says.

Common symptoms include uncontrolled crying, often mistaken for colic, which occurs about the same age. The baby's reflux was actually angina, chest pain that occurs when the heart isn't getting enough blood, Martin says. The slightly enlarged heart, along with the persistent wheezing, was the tip-off, Martin says. Both should have triggered a prompt referral to a cardiologist.

Babies may wheeze with a respiratory infection, but vthey should get better within a few days, Martin says. The second X-ray showed that Matthew's heart was 30 percent bigger than normal.

Matthew had another heart attack while being readied for surgery, Jason says. The couple was told their son had an 80 percent chance of surviving the 6 ½-hour operation, in which the artery was removed from its incorrect location and connected to the aorta. There were other worries, too, about postoperative infection and the inevitable long wait to see whether he would develop normally.

Those concerns have been laid to rest. He's a loud, typically obnoxious 4-year-old who plays football, his father says. Matthew now sees Martin once a year; he has no restrictions and seems unscathed by his ordeal.

Jason says. We were one of the lucky ones.


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