A case report recently published in Diagnostics emphasized the challenges of diagnosing transthyretin amyloid cardiomyopathy (ATTR-CM) and the need for early intervention.
“Diagnostic difficulties arise due to the non-specific, multiorgan manifestations caused by the deposition of protein aggregates in the extracellular matrix as a result of abnormal tertiary protein structure,” the authors said.
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.
The study detailed the guidelines for diagnosis, along with current and emerging treatments for ATTR-CM.
Read more about ATTR-CM testing and diagnosis
The case report described an 85-year-old patient who presented with a history of difficulty breathing during exercise. Prior to hospitalization, the patient received antihypertensive treatment with some success. Physical examination showed pyoderma gangrenosum ulceration, a rare skin condition, on the abdomen.
Read more about ATTR-CM testing and diagnosis
Blood work indicated elevated levels of N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin, suggesting cardiac disease.
A subsequent electrocardiogram revealed atrial fibrillation. The imaging also showed T-wave inversion, a potential sign of heart disease. Transthoracic echocardiography showed aortic stenosis and a thickened right ventricular wall, left ventricular wall, mitral valve and interatrial septum.
On the basis of these findings, the authors decided to perform scintigraphy. Findings revealed Grade 3 myocardial uptake, meaning the heart had a high uptake of radioactive tracer, indicating likely ATTR-CM.
Clinicians prescribed dapagliflozin and torasemide to address the patient’s difficulty breathing and her fluid overload. She was then referred to a clinic to be considered for treatment with tafamidis, one of the primary treatments for ATTR-CM, which works to stabilize the transthyretin unit. Genetic testing was recommended to determine whether the patient had hereditary ATTR-CM.
The authors also discussed novel therapies for ATTR-CM, underscoring the need for timely diagnosis. Vutrisiran, a drug currently approved to treat transthyretin amyloid polyneuropathy (ATTR-PN), has shown promise in clinical trials for ATTR-CM, they said.
“As novel therapies continue to emerge, early diagnosis is essential for the initiation of targeted treatment, preventing the development of severe complications,” the investigators added.
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