Researchers presented the case of a patient who had persistent heart failure, leading to a diagnosis of cardiac amyloidosis (ATTR-CM).
The report was published in Cureus.
ATTR-CM is a severe form of restrictive cardiomyopathy and can be categorized as either light-chain or wild-type (ATTR). Patients with ATTR amyloidosis may present with symptoms of heart failure, such as dyspnea, arrhythmia, and lower extremity edema. This case report demonstrates the importance of routine surveillance of ATTR amyloidosis among patients with persistent heart failure despite optimized medical therapy.
A 72-year-old woman with existing heart failure (ejection fraction, 56%) presented with dyspnea and worsening lower limb edema. Earlier in the year, she was admitted for congestive heart failure exacerbation; upon discharge, she still had residual edema and shortness of breath.
Upon her latest presentation, the patient was found to have atrial fibrillation that converted spontaneously to normal sinus rhythm. She was tachycardic with bilateral crackles and 3+ lower limb pitting edema (up to the sacrum). Laboratory investigations revealed elevated brain natriuretic peptide (21,000 pg/mL) and troponin (199 ng/mL). She was started on 3 liters of oxygen and 80 mg of intravenous furosemide twice daily.
Read more about ATTR-CM etiology
Because the patient was not responding well to medical therapy, her physicians performed a right heart catheterization, revealing mildly elevated right atrial pressure. Cardiac magnetic resonance imaging demonstrated a left ventricular ejection fraction of 52%, increased wall thickness, and evidence of infiltrative disease.
A bone scintigraphy scan was inconclusive for ATTR, but an endomyocardial biopsy provided more evidence. The patient was therefore started on tafamidis, which was well-tolerated. Nevertheless, she was expected to have a poor prognosis (survival of less than 1 year).
This case study demonstrates how further investigations are often warranted for patients with refractory heart failure. In the case of this patient, investigations upon worsening heart failure revealed a diagnosis of ATTR-CM.
“Unfortunately, patients who have ATTR amyloidosis have a poor prognosis; however, with the development of new clinical drugs on the horizon, such as the FDA-approved medication, tafamidis, there is hope for a better prognosis in the future,” the authors wrote.
Maraj D, Ramanan S, Patel PM, Memon M, Hawes E. Persistent heart failure despite medical therapy leading to a diagnosis of cardiac amyloidosis. Cureus. Published online August 15, 2023. doi:10.7759/cureus.43547