A case report recently published in the journal US Cardiology Review showed that transthyretin amyloid cardiomyopathy (ATTR-CM) may not always follow the same rules in every patient.
Typically, in ATTR-CM, amyloid protein builds up in the heart’s lower left chamber (also called the left ventricle). But the report describes a case where amyloid protein had largely built up in the upper right chamber of the heart (the right atrium).
Initially, the patient had been misdiagnosed as having a different heart condition called hypertrophic cardiomyopathy. “Cardiac amyloidosis often escapes recognition, being correctly diagnosed in approximately only one-third of the patients during their lifetime,” the report’s authors said. The case illustrates how important advanced imaging techniques are for getting to the right diagnosis.
Read more about ATTR-CM testing and diagnosis
The patient was a 66-year-old woman with diabetes and high blood pressure who had been diagnosed with hypertrophic cardiomyopathy, a disease in which the heart muscle becomes thickened. After having a stroke, she was also diagnosed with an irregular heart rhythm (atrial fibrillation).
Using advanced imaging techniques, including a heart MRI (a test that uses a magnetic field and radiofrequency waves to make detailed pictures of your heart and arteries) and a special scan with a small amount of radioactive dye, doctors discovered a buildup of amyloid protein in the right atrium, with smaller amounts in the right and left ventricles. Although this was an unusual pattern, it helped them to correctly diagnose the woman with ATTR-CM.
Through blood tests and genetic analysis, doctors ruled out the inherited form of ATTR-CM, and diagnosed the woman with wild-type ATTR-CM, an age-related condition.
After starting treatment with tafamidis, a medication that slows the disease’s progression, her symptoms improved.
There are several warning signs of ATTR-CM that doctors should watch for in patients, including old age, heart failure, nerve problems like weakness, numbness and pain, carpal tunnel syndrome in both hands, torn biceps, narrowing of the spinal canal in the lower part of the back (lumbar spinal stenosis) and certain patterns on an echocardiography (ECG) test. Being aware of these red flags helps doctors detect the condition early and start treatment, the authors said.
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