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Marfan syndrome hasn’t taken away this cardiologist’s zest for life
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Marfan syndrome hasn’t taken away this cardiologist’s zest for life

Dr Douglas Richter was diagnosed with the inherited connective tissue disorder in 1975 when he was 12 years old
Dr Douglas Richter
Dr Douglas Richter

A Halloween party in 1985 gave cardiologist Douglas Richter a good scare. Dr Richter, dressed as Mr Spock, was playing foosball with his friends from the first year of medical school in New Jersey when he developed chest pain. Living with Marfan syndrome, he was told to visit the emergency room as soon as he develops chest pain.

Calling it a funny story, he says, “I was always being warned what an aortic dissection feels like. But this was not what I was expecting. I turned to a classmate and said, ‘I have this thing that we have not learned about yet, called Marfan syndrome and I was told that I need to go to an emergency room if I developed chest pain.’ We walked five blocks to the local emergency room of our medical school, dressed in costumes. I told the staff, ‘First of all, this is not a joke. I have Marfan syndrome. I was told I need to be evaluated for aortic dissection if I develop chest pain’.” It was found that he did not have aortic dissection but a spontaneous pneumothorax, a collapsed lung on the left side.

He underwent an open surgery and had a chest tube implanted as the minimally invasive thoracoscopic surgery was unheard of in 1985. During recovery, he suffered another collapsed lung and had to be hospitalised again to undergo another chest tube implantation.

Marfan syndrome is the inherited connective tissue disorder caused due to the mutation in the FBN1 gene. It affects mainly three body systems – cardiovascular, eyes and musculoskeletal. People living with Marfan syndrome have tall and slender build, with long arms, legs and fingers.

Diagnosis of Marfan syndrome

Dr Richter, currently a cardiologist at Cooper University Health Care in New Jersey, was tall for his age. In seventh grade, he was about five feet and eight inches. His ophthalmologist diagnosed him to be one of the people with Marfan syndrome at 12 years of age during a routine eye check-up in 1975. Dr Richter had ectopia lentis (dislocation of crystalline lenses in the eyes), which is associated with the disorder. He was then referred to John Hopkins Hospital for further treatment.

He recalls, “I remember going there in my teenage years, having them scrape inside of my cheeks and take blood samples because they were developing genetic testing protocol and trying to discover the gene.”

Dr Richter has had seven surgeries related to Marfan syndrome between 1985 and 2008. “I had two surgeries in the lungs, underwent hernia repair twice and had both lenses of my eyes removed. I wear bifocals and contact lenses every day as I have no lenses inside my eyes, since the 90s,” he says. A cardiac surgery about 15 years ago was the last Marfan-related surgery he had.

He was a cardiologist by then and could look at his echocardiogram and understand how bad was the mitral valve prolapse and how severe was his leaky heart valve. “I was having episodes of arrhythmias called atrial fibrillation but fortunately, it never lasted for a long time. It would usually resolve with some medications. But I knew that it was time to undergo surgery to fix the mitral valve and aorta,” he says.

Dr Douglas Richter (right) on the day of his wedding.

Doctor who treats himself has a fool for a patient

Dr Richter’s surgeon in Pennsylvania agreed to do two surgeries to fix the mitral valve and aorta together as he didn’t want to go under the knife again. The plan was to repair the mitral valve and then do the David-5 procedure (surgery to replace the aorta, keeping one’s own aortic valve). “He fixed the mitral valve. However, while trying to fix the aorta, he saw that the leaflets of aortic valves had some penetrations. So, he could not do a valve-sparing procedure because those little holes could have caused the leaky valve and could get larger causing more leaks later. As I did not want a mechanical valve, he corrected the defect with a porcine aortic valve and Dacron graft, a sturdy fabric,” he says.

Being a cardiologist living with Marfan syndrome himself, he says that he never questioned his doctors. “A doctor who treats himself has a fool for a patient. I never do official reading on any of my own tests. I just look at them for my own interest,” he says.

Dr Richter was keen to become a plastic surgeon at first. But during surgical rotations, he faced some difficulty in his vision (before his eye surgeries) and back pain. Due to his height, he had to bend over a lot which made him realise surgery is probably not the smart option for him. “I happened to do a rotation in cardiology later and I was sold,” he says. He has over 30 years of experience in the field now.

Journey with Marfan syndrome

From the time when there was no proper diagnosis for the condition to now being able to detect it in-utero, Dr Richter has seen awareness growing among people with Marfan syndrome and the technology developing. “Marfan Foundation was formed in the early 1980s. The gene (responsible for Marfan) was discovered just a few years before my third daughter was born. My wife does not have Marfan. So, each one of my children had a 50 percent chance of getting it. However, only the youngest has it which was diagnosed in-utero. My wife went for amniocentesis and the mutation was found. She is likely to be affected to the same degree as I,” he says.

Being six feet and eight inches tall now with a 38-inch inseam, his legs are out of proportion and are too long for his body. Buying clothes, car and travelling in a flight are all challenges he faces on a regular basis. “Everyone’s got obstacles in their lives. They might be different, but you got to live your life,” he says.

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