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Updated: Feb 21, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
A case study of likely wild-type cardiac transthyretin amyloidosis causing rapid deterioration
Thomas Davies1, Aarash Saleh1, Gerry Coghlan2
1Intensive Care Department, Royal Free Hospital, London, UK.
Abstract:
We present the case of an 88-year-old gentleman who presented to hospital septic with bilateral leg cellulitis, pulmonary oedema and hypotension. He had no history of heart disease but had had bilateral carpal tunnel releases. His condition deteriorated with refractory hypotension in spite of fluid filling, inotropic and vasopressor support. His echocardiogram showed an infiltrative cardiomyopathy with a speckled myocardium, severe concentric left and right ventricular increased wall thickness, diastolic dysfunction, biatrial dilatation and restrictive physiology in keeping with cardiac amyloidosis. He developed atrial fibrillation and worsening respiratory failure due to fluid overload and was intubated and ventilated but continued to decline and passed away. The degree of heart failure in the absence of ischaemia, the patient's advanced age, echocardiographic findings and past history of carpal tunnel syndrome in a male are strongly indicative of a diagnosis of wild-type cardiac transthyretin amyloidosis. We discuss the key features and intensive care management of this disease.
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