JACC. Case reports · 2026
Unmasking AL Cardiac Amyloidosis During Familial Cardiomyopathy Screening.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Barberis Barcia Giuseppe, Toranzo-Nieto Inés, González-Calle Verónica, Maillo Seco Javier, Álvarez Rodríguez Leyre, Cañadas Salazar Jose C, García Monsalvo Mónica, Muñoz León Jose A, Agullo Roca Cristina, Eiros Bachiller Rocío
Аннотация
BACKGROUND: Amyloid light-chain (AL) amyloidosis is a life-threatening plasma cell disorder in which prognosis is largely determined by cardiac involvement. Early diagnosis remains uncommon.
CASE SUMMARY: A 65-year-old asymptomatic man was referred for familial hypertrophic cardiomyopathy screening. Echocardiography showed severe left ventricular hypertrophy, and cardiac magnetic resonance revealed biventricular hypertrophy with normal extracellular volume, along with late gadolinium enhancement in the interventricular septum and both atria, raising suspicion for infiltrative cardiomyopathy. Bone scintigraphy showed no pathologic cardiac tracer uptake (Perugini grade 0). An abnormal κ/λ ratio prompted hematologic work-up, and endomyocardial biopsy confirmed AL cardiac amyloidosis. Treatment with daratumumab, cyclophosphamide, bortezomib, and dexamethasone was initiated.
DISCUSSION: This case highlights the diagnostic value of multimodality imaging and systematic monoclonal protein screening in unexplained ventricular hypertrophy.
TAKE-HOME MESSAGE: A high index of suspicion is required to avoid missing early AL cardiac amyloidosis, particularly in patients with unexplained ventricular hypertrophy.
CASE SUMMARY: A 65-year-old asymptomatic man was referred for familial hypertrophic cardiomyopathy screening. Echocardiography showed severe left ventricular hypertrophy, and cardiac magnetic resonance revealed biventricular hypertrophy with normal extracellular volume, along with late gadolinium enhancement in the interventricular septum and both atria, raising suspicion for infiltrative cardiomyopathy. Bone scintigraphy showed no pathologic cardiac tracer uptake (Perugini grade 0). An abnormal κ/λ ratio prompted hematologic work-up, and endomyocardial biopsy confirmed AL cardiac amyloidosis. Treatment with daratumumab, cyclophosphamide, bortezomib, and dexamethasone was initiated.
DISCUSSION: This case highlights the diagnostic value of multimodality imaging and systematic monoclonal protein screening in unexplained ventricular hypertrophy.
TAKE-HOME MESSAGE: A high index of suspicion is required to avoid missing early AL cardiac amyloidosis, particularly in patients with unexplained ventricular hypertrophy.