Height plays role in this rare disease diagnosis

Morphology is the branch of biology that deals with the form and structure of animals and plants. Although morphology addresses the outward appearance of living things, it frequently implies something about the internal structures as well.

When I saw a patient with chest pain recently, I couldn’t help but think about his morphology.

He had been brought in by ambulance after feeling sudden chest pains while watching TV. I didn’t have the advantage of seeing him walk into the room, but I had a clue to his unusual morphology when I noticed how far his feet hung off the end of the bed.There are tall men, and there are tall men. He was exceedingly tall and thin as a whip.

My patient was a 22-year-old Somali and spoke little English, so we used a video translator to ask him about his symptoms.

He said his chest pain had begun suddenly while he was at rest and was accompanied by shortness of breath. He described the pain as severe and radiating into his back, between his shoulder blades.The usual terms that we use to help us better define chest pain — sharp, burning, stabbing, aching, pressure, cramping — were lost in translation for my patient. A quick check of his vital signs told me he was stable. During the physical exam, I heard a strong heartbeat without murmurs and clear breath sounds in both lungs.

We have to keep many diagnoses in mind when a patient complains of chest pain, but given this patient’s appearance, two immediate concerns came to mind, and both were based on his morphology.

The first was whether my patient had a pneumothorax.

Unusually tall, thin people have unusually tall, thin lungs. Because of their height, their lungs are under increased strain and are essentially stretched lengthwise to the point where a cough, a forceful sneeze or even an early-morning stretch can cause a lung to pull away from the chest wall, allowing air to escape into the space between the lung and the ribs. That is a pneumothorax.

The resulting accumulation of air causes chest pain on one side and shortness of breath.

A pneumothorax can become life-threatening if enough air accumulates and compromises the overall function of the lung. Worse yet, so much air can become trapped in the chest that it can push the heart and major vessels to one side.

This shift can stop blood from going into and out of the heart and cause a catastrophic drop in blood pressure and cardiac arrest.It was comforting to know that my patient had breath sounds on both sides of his chest, which reduced the likelihood that he had a massive pneumothorax.

The other concern was an aortic tear. My patient’s unusual height could be the result of Marfan syndrome, a genetic disorder of the connective tissue. People with the disorder are tall and thin and have long limbs and long, thin fingers.

The majority of Marfan cases are identified by pediatricians during childhood or adolescence, but not all are. Because my patient was born and raised in Somalia, I could not assume that he had ever been tested for Marfan syndrome or received regular medical care.

The connective-tissue disorder in Marfan syndrome weakens the fibers that compose a layer of the aorta. Even normal pressure over the years can tear this weakened layer.Complications can include a heart attack or acute heart failure.By itself, separation of the layers of the aorta is painful and a cause for alarm.

Although we had to consider other less-likely diagnoses — angina, a blood clot in the lung, pneumonia — the fact that my patient was 6 feet 9 inches tall and weighed 180 pounds stayed in my thought process.

He ended up undergoing a CT scan of his chest, which revealed serious aortic dissection. Although some minor dissections can be managed with conservative measures, such as blood-pressure control and observation, my patient’s case required a quick consultation with a cardiothoracic surgeon and a significant surgical procedure to replace his aorta.

When I visited my patient in the hospital a few days later, he was doing well. A test for Marfan showed that he indeed had the disorder.In his room, I had the opportunity to meet his parents, who are both moderately tall, as well as his three siblings.His sister is 6 feet 3 inches tall, and his two brothers are at least 6 feet 5 inches tall. All three already had been approached by staff members, and heart tests had been scheduled.
