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Sumeet Mainigi, associate director of electrophysiology, Einstein Medical Center tells the tale of a medical mystery solved here at Einstein.
A young man arrived in handcuffs at the emergency room at Einstein Medical Center. He'd fainted behind the wheel while driving home from work and run his car into another, which in turn hit a police car. Officers assumed he was drunk or on drugs, so they took him into custody and to the hospital.
By the time the case was resolved a few days later, two lives had been saved. But that's getting ahead of the story.Toxicology tests were done on the patient and came back negative.He was a clean-living, healthy young man. After drugs and alcohol were ruled out as a cause of the blackout, the cardiology department was consulted, which is routine when a patient faints for no apparent reason. The electrocardiogram and echocardiogram showed nothing grossly abnormal on initial reading, and no other cause for the fainting was found. Cardiology requested a consultation from my department, which specializes in heart rhythm disorders.Fainting is a common symptom and determining which cases are worrisome and which aren't can be difficult.This case concerned me. It's unusual for a young, healthy person to pass out, and it's a big deal to pass out while driving. Something was wrong with him and we had to find it.I went back and looked at the EKG, which records the heart's electrical activity, and noticed a tiny wiggle - called an epsilon wave - at the end of one of the patient's heartbeats.At first pass, no one would necessarily think anything about it. But I knew the waves could be a sign of a rare cardiac disorder and decided to reexamine the echocardiogram.The right ventricle wasn't clearly visible on the echocardiogram, which uses ultrasound to make a picture of the heart. But I suspected the right chamber wasn't functioning normally. The patient's primary treatment team, with nothing conclusive to go on, already had decided to send him home, but I asked them to keep him in the hospital for more testing.I requested an MRI of the heart.The solution:The MRI held the answer.The patient appeared to have arrhythmogenic right ventricular dysplasia, a congenital condition in which the right ventricle doesn't form properly in the womb.By the time a person reaches young adulthood - this patient was in his early 20s - the muscle tissue in the heart begins to be replaced by fat and connective tissue. The ventricle starts to swell and weaken and can trigger life-threatening arrhythmias.Sometimes an episode of fainting is one of these life-threatening arrhythmias, and we were lucky because the person woke up.Most patients die of sudden death; indeed, ARVD is a leading cause of death in young athletes. When we see people with this condition who've passed out suddenly, we assume it's an aborted cardiac death.After the MRI, I did an electrical study of his heart similar to a cardiac catheterization. I was able to induce the dangerous heart rhythm, which was further confirmation of the diagnosis.The disorder is very rare and we see at most one case every year or two at Einstein. The clues, for me, were the epsilon waves from the EKG that are associated with the condition.We implanted a defibrillator in the patient's chest and connected it to a remote wireless heart-monitoring service that continuously tracks his heart. He is doing well.The long-term outcome is variable. If his heart continues to deteriorate, he could go into heart failure, which would be treated at the outset, at least, with medicine and, potentially, an eventual transplant. But it could remain stable for decades and perhaps the rest of his life.Though the condition doesn't necessarily run in families, we recommended the patient's siblings be tested. All were screened with EKGs, ultrasounds, and MRIs.Two came back without any evidence of ARVD. But his younger brother, who'd never had an incident, also was diagnosed with the condition. He also had a defibrillator implanted.The car accident, as it turned out, prevented both brothers from the risk of sudden death.The charges against the young man, by the way, were dropped.