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Case 25-2025: 93-Year-Old Woman with Dyspnea and Fatigue
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Boston, MA - A recent case report published in the New england Journal of Medicine details the complex diagnostic journey of a ninety-three-year-old woman presenting with progressive dyspnea and fatigue. The case, documented on September 11, 2025, highlights the challenges of diagnosing cardiac amyloidosis in the elderly and the importance of advanced imaging techniques. This case underscores the growing prevalence of amyloidosis as a cause of heart failure, even in advanced age.
Patient Presentation
The patient,a ninety-three-year-old woman with a history of hypertension and osteoarthritis,initially presented to her primary care physician with complaints of worsening shortness of breath and profound fatigue over several months. Her symptoms significantly limited her ability to perform daily activities. initial evaluations, including a chest X-ray, were non-diagnostic.
Did You Know? Cardiac amyloidosis is frequently enough misdiagnosed as othre, more common causes of heart failure, leading to delays in appropriate treatment.
Diagnostic Workup & Findings
Further investigation revealed normal left ventricular ejection fraction but evidence of increased left ventricular wall thickness on echocardiography.This prompted a referral to a cardiologist specializing in amyloid heart disease. A technetium-99m pyrophosphate (PYP) scintigraphy scan showed meaningful uptake in the cardiac apex,strongly suggestive of cardiac amyloidosis.
Subsequent cardiac magnetic resonance imaging (MRI) confirmed the diagnosis, demonstrating diffuse myocardial thickening and late gadolinium enhancement consistent with amyloid deposition. Genetic testing identified a variant in the TTR gene, confirming hereditary transthyretin amyloidosis (hATTR).
key Data Summary
| Characteristic | Value |
|---|---|
| Patient age | 93 years |
| Presenting Symptoms | Dyspnea, Fatigue |
| Initial ECG Findings | Normal Sinus Rhythm |
| Echocardiography | Increased LV Wall Thickness |
| PYP Scan | Positive Uptake |
| Genetic mutation | TTR variant |
treatment & Prognosis
The patient was initiated on tafamidis, a transthyretin stabilizer, to slow the progression of amyloid deposition. She was also managed with standard heart failure medications to control her symptoms. While a cure for amyloidosis remains elusive, tafamidis has shown promise in stabilizing the disease and improving quality of life.
pro Tip: Early diagnosis and treatment of cardiac amyloidosis are crucial for maximizing patient outcomes.
Discussion
This case highlights the importance of considering cardiac amyloidosis in elderly patients presenting with unexplained dyspnea and fatigue, even in the absence of typical symptoms.The diagnosis can be challenging, requiring a high index of suspicion and the utilization of advanced imaging modalities
,” according to the report authors. The increasing availability of genetic testing allows for precise diagnosis and targeted therapy.
New England Journal of Medicine, volume 393, Issue 10 (September 11, 2025)
The authors emphasize the need for greater awareness of amyloidosis among clinicians to improve diagnostic rates and ensure timely access to potentially life-altering treatments. The case also underscores the evolving landscape of cardiac care, with a growing focus on personalized medicine and the identification of rare but treatable causes of heart failure.
What are yoru thoughts on the role of genetic testing in diagnosing rare cardiac conditions? How can we improve awareness of amyloidosis among primary care physicians?
Cardiac Amyloidosis: A growing Concern
Cardiac amyloidosis is a rare but increasingly recognized cause of
