Heart failure and sensory neuropathy in transthyretin variant amyloidosis p.Val142Ile

García-Saavedra M.B.; Ordinola-Calle D.D.; Purizaca-Rosillo N.D. · Anales de la Facultad de Medicina (2026) · DOI: 10.15381/anales.v87i1.32293

Resumen

Variant transthyretin cardiac amyloidosis is an emerging cause of heart failure that may manifest with wide variety of signs and symptoms, whose recognition constitutes the starting point for diagnosis. We report the case of an elderly woman with a history of hypertension, diabetes, and bilateral carpa l tunnel syndrome who developed heart failure with poor tolerance to guideline-directed medical therapy. The identification of red flags on electrocardiography and echocardiography raised the suspicion of amyloidosis, and genetic testing of the TTR gene confirmed the Val142Ile variant as the underlying cause of the disease. In Peru, disease-modifying therapies for amyloidosis are currently unavailable; however, identification of the variant in the index case allowed genetic screening among direct relatives. © (2026), (Universidad Nacional Mayor de San Marcos, Facultad de Medicina), All Rights Reserved.