A patient with transthyretin amyloid cardiomyopathy (ATTR-CM) benefited from early diagnosis and treatment with an oral transthyretin stabilizer, according to a case report published recently in Cureus.
The 67-year-old man experienced lessening symptoms of heart failure after starting on the stabilizer. Despite worsening shortness of breath, swelling in his legs and reduced exercise tolerance, he had not been hospitalized since beginning therapy. His heart function improved, and his ability to perform daily activities significantly increased.
What is ATTR-CM?
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a rare progressive disease of the heart muscle that leads to congestive heart failure. It occurs when the transthyretin protein produced by the liver is unstable. Symptoms include fatigue; shortness of breath; irregular heart rate or palpitations; swelling of the legs, ankles and stomach; brain fog; wheezing; and dizziness. It often goes underdiagnosed because of a lack of awareness and knowledge of the disease. There is currently no cure for ATTR-CM.
“Clinical hints include symptoms of heart failure, low voltage complexes on electrocardiogram despite evidence of left ventricular hypertrophy, bilateral carpal tunnel syndrome, bilateral biceps tendon rupture, and autonomic dysfunction, which should prompt screening for cardiac amyloidosis,” report authors said.
Read more about ATTR-CM testing and diagnosis
“Amyloid cardiomyopathy presents commonly with features of heart failure, and early diagnosis of the disease through multimodality imaging is helpful to institute timely and appropriate treatment. ATTR-CM should be explored as an etiology of heart failure symptoms,” the authors added.
Patients with ATTR-CM often face a delayed diagnosis because symptoms mimic those of other heart conditions. Advances in imaging and genetic testing are improving detection, leading to earlier interventions. The case highlighted the importance of comprehensive evaluation in patients with unexplained heart failure.
The patient first sought medical attention after four days of chest discomfort and a monthslong decline in his ability to exert himself. He had a history of hypertension, diabetes and high cholesterol, but no family history of heart disease.
Testing initially suggested nonobstructive coronary artery disease. But additional imaging pointed to a more complex condition. An echocardiogram revealed severe left ventricular dysfunction, and cardiac MRI showed abnormal contrast uptake, raising suspicion of ATTR-CM. A specialized nuclear scan confirmed the diagnosis, identifying the transthyretin type, which is linked to a genetic mutation.
The diagnosis was confirmed through a cardiac biopsy, which identified amyloid deposits, and genetic testing revealed a mutation associated with hereditary ATTR-CM.
Following his diagnosis, the patient was started on heart failure medications, including diuretics, ACE inhibitors and statins. The treatments helped stabilize his condition, but his most notable improvement came after beginning tafamidis, a medication that prevents the transthyretin protein from misfolding and forming harmful deposits. Within six months, his symptoms improved, and he regained much of his lost exercise capacity.
This patient remains under close medical supervision and has been evaluated for a potential heart transplant. His response to tafamidis has allowed him to continue daily activities without recurrent hospitalizations. His case underscored how emerging treatments could transform outcomes for individuals with this complex disease.
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