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Cardiac amyloidosis, an underdiagnosed cause of heart failure, may present with persistent symptoms even under optimal medical therapy. Early diagnosis and novel treatments may offer hope for better outcomes.

  • Cardiac amyloidosis is a severe form of restrictive cardiomyopathy that can elude diagnosis.
  • Persistent heart failure symptoms may be a red flag for amyloidosis in the absence of a genetic cardiac disease history.
  • New FDA-approved medications, like tafamidis, target the specific pathology of amyloidosis, offering potential treatment alternatives.

Cardiac amyloidosis is a rare form of restrictive cardiomyopathy, often falling under the radar when diagnosing heart failure. While two primary types exist: light-chain amyloidosis (AL) and wild-type transthyretin amyloidosis (ATTR), both share a common clinical presentation. Symptoms like dyspnea, edema, and arrhythmias often overlap with other heart conditions, making the diagnostic process challenging. Advanced imaging techniques, like cardiac magnetic resonance imaging (CMR), and specific testing methods may help support a diagnosis.

Case Unfolds: Amyloidosis in the Spotlight

A case study published in the journal Cureus highlights the need for routine visits for patients with heart failure and worsening symptoms. A 72-year-old female with a history of systemic lupus erythematosus (SLE), hypertension, hyperlipidemia, stage 3a chronic kidney disease, atrial fibrillation, diverticulitis, and heart failure with preserved ejection fraction of 56% presented with persistent and worsening shortness of breath and lower extremity edema, despite receiving optimal medical therapy. Her previous echocardiogram showed a preserved ejection fraction, and there was no family history of cardiac diseases. 

Unmasking Cardiac Amyloidosis in Persistent Heart Failure

Further investigation with CMR showed increased wall thickness and segments of midmyocardial to subendocardial late gadolinium enhancement that were suggestive of infiltrative disease. Monoclonal gammopathy testing and technetium pyrophosphate (99mTc-PYP) scintigraphy were performed and were inconclusive. An endomyocardial biopsy confirmed the diagnosis of wild-type, systemic senile amyloidosis. 

Clinical Takeaways

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This case underscores the need for increased clinical suspicion of cardiac amyloidosis in patients with persistent heart failure symptoms, especially those who don’t respond to standard medical therapy.

While loop diuretics remain a mainstay treatment for decompensated heart failure, guideline-directed therapy does not produce adequate results in amyloidosis-related cardiomyopathy. Additionally, many traditional heart failure medications, such as beta blockers and calcium-channel blockers, are contraindicated. The FDA’s recent approval of tafamidis opens up new avenues for treating ATTR amyloidosis, potentially improving survival and quality of life. Early diagnosis, combined with these innovative treatments, may positively affect the clinical course of patients.

Source:

Maraj, D., Ramanan, S., Patel, P. M., Memon, M., & Hawes, E. (2023). Persistent Heart Failure Despite Medical Therapy Leading to a Diagnosis of Cardiac Amyloidosis. Cureus, 15(8), e43547. https://doi.org/10.7759/cureus.43547