From hypertension to heart failure: The missed clues of transthyretin cardiac amyloidosis
An 89-year-old woman with a history of hypertension and hypothyroidism was referred to the cardiology clinic because of progressively worsening shortness of breath. She managed all daily activities independently. Her symptoms had been present for several years, with notable deterioration over the pa...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
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| Series: | Clinical Medicine |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1470211825001198 |
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| Summary: | An 89-year-old woman with a history of hypertension and hypothyroidism was referred to the cardiology clinic because of progressively worsening shortness of breath. She managed all daily activities independently. Her symptoms had been present for several years, with notable deterioration over the past few months. Recently, she had been evaluated in the emergency department for acute dyspnoea and treated for an upper respiratory tract infection, but her symptoms persisted.A review of her medical history revealed significant indicators. In 2009, she had palpitations and dizziness, which were attributed to postural hypotension, prompting adjustments in her antihypertensive regimen. In 2013, she was treated for bilateral carpal tunnel syndrome. In 2019, her NT-proBNP level was elevated at 547 ng/L, and echocardiography showed moderate left ventricular hypertrophy (LVH). She was diagnosed with hypertensive heart disease and had her medications adjusted. Despite a history of smoking, no significant chronic obstructive pulmonary disease (COPD) was found to explain her persistent shortness of breath.In April 2024, she was again admitted for acute dyspnoea and treated for an upper respiratory infection. Although she showed some improvement, her symptoms did not resolve entirely. By May 2024, her GP referred her back to cardiology because her dyspnoea remained unchanged, and she developed bilateral ankle oedema. During this visit, her shortness of breath was classified as New York Heart Association (NYHA) Class III. Examination revealed congestion, raised jugular venous pressure (JVP) and peripheral oedema. NT-proBNP increased to 1204 ng/L, and cardiac troponin was mildly elevated at 28 ng/L.Electrocardiography (ECG) demonstrated a pseudo-infarct pattern (Fig 1). Repeat echocardiography revealed severe LVH with a restrictive filling pattern, raising suspicion of an infiltrative cardiomyopathy, such as cardiac amyloidosis. Further investigations, including serum and urine immune electrophoresis and free light chain analysis, were negative. Given the high clinical suspicion, she was referred to the National Amyloidosis Center, where a 99mTc-DPD bone scan revealed Grade III radiotracer uptake, confirming the diagnosis of transthyretin (TTR) cardiac amyloidosis. She started tafamidis, a TTR stabiliser, leading to marked improvement in her symptoms and overall quality of life.This case underscores the importance of recognising cardiac amyloidosis, often overlooked in clinical practice. Patients usually experience diagnostic delays of 4 to 5 years, resulting in missed opportunities for early intervention.1 A high index of suspicion is essential, particularly in older patients with unexplained heart failure symptoms, progressive LVH and autonomic dysfunction.2This patient's red flags (longstanding dyspnoea despite controlled hypertension, a history of bilateral carpal tunnel syndrome, rising NT-proBNP levels and hypotension) could have facilitated an earlier diagnosis. Enhanced clinical awareness and a comprehensive approach to unexplained heart failure symptoms are crucial, because early recognition and treatment can significantly improve patient outcomes.3 |
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| ISSN: | 1470-2118 |