Related Experiment Video
Updated: Sep 26, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Unmasking AL Cardiac Amyloidosis During Familial Cardiomyopathy Screening
Giuseppe Barberis Barcia1, Inés Toranzo-Nieto2, Verónica González-Calle3
1Department of Cardiology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.
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.
More Related Videos
11:53Simultaneous Isolation and Culture of Atrial Myocytes, Ventricular Myocytes, and Non-Myocytes from an Adult Mouse Heart
Published on: June 14, 2020
12:24Noninvasive Assessment of Cardiac Abnormalities in Experimental Autoimmune Myocarditis by Magnetic Resonance Microscopy Imaging in the Mouse
Published on: June 20, 2014
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy V: Interprofessional Care