It was the EKG done in the emergency department that provided Wallach with the last clue he needed to make his diagnosis. An EKG measures the electricity generated by the heart in order to make the muscles contract effectively. A thick, muscular heart will make an EKG tracing that is bigger, more exaggerated than normal. The more muscle present, the bigger the signal. But this man’s heart generated a signal that was smaller than normal. Less electricity could suggest less muscle. Was this man’s heart enlarged by something other than muscle?
There are diseases that can invade cardiac muscles to make them look bigger but be weaker. A disease like that could account for all the man’s symptoms — the thick-looking walls, the overflow into the lungs, the strange EKG, the shortness of breath, even the hemoptysis. “I think you might have something serious,” Wallach told the patient. A cardiac M.R.I. could give them the answer. The patient got that test a few days later. He wasn’t out of the scanner for more than 20 minutes when his phone rang. It was Wallach. The images told the story: The man had a disease known as amyloidosis.
Amyloidosis is the final result of many disease processes that ultimately cause zigzag-shaped fibers to accumulate in different parts of the body. Cardiac amyloidosis can be a result of a cancer known as multiple myeloma. In this cancer, a type of white cell called a plasma cell creates abnormal fibers that can break down and form the characteristic saw-toothed fibers of amyloidosis. These jagged fibers can also be a result of aging. In this version of the disease, carrier proteins known as transthyretins break down and take on the abnormal but characteristic irregular folds of amyloidosis. In both diseases, these serrated fibers travel through the body, invading and accumulating in muscle — often the heart muscle.
Tests on blood and urine quickly showed that his disease wasn’t due to myeloma. That was a relief; the prognosis for patients with cardiac amyloidosis from multiple myeloma is poor. They often die within a year of getting the diagnosis. A biopsy of the heart muscle proved that it was the form of amyloidosis associated with aging. This type of amyloidosis is also progressive but much more slowly. The patient was referred to a cardiothoracic surgeon at Columbia University. Sooner or later, he was going to need a heart transplant.
Three years passed before Wallach heard again from the patient. He wrote to let Wallach know he’d received his heart transplant and was doing well. He was writing to say thank you: “You saved my life.”
I asked Wallach how he could make this diagnosis when other doctors had not. He called it the Aunt Tilly Sign. “If I described Aunt Tilly to you and sent you out into a crowd to find her, you’d probably fail. But if you’d ever seen Aunt Tilly” — he snapped his fingers — “no problem. You’d find her in a second. It’s all about recognition.”
Lisa Sanders, M.D., is a contributing writer for the magazine. Her latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries.” If you have a solved case to share with Dr. Sanders, write her at Lisa .Sandersmd@gmail.com.