Related Experiment Video
Updated: Aug 23, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Cardiac amyloidosis presenting as pseudo-hypertrophic cardiomyopathy
Alexander Papachan1, Karen Sliwa, A Gildenhuys
1Department of Cardiology, Chris Hani-Baragwanath Hospital, Johannesburg, South Africa.
Insights
Cardiac amyloidosis and hypertrophic cardiomyopathy can both cause excessive heart muscle thickening. This case highlights a rare instance where cardiac amyloidosis closely mimicked hypertrophic cardiomyopathy, necessitating a biopsy for definitive diagnosis.
Area of Science:
- Cardiology
- Cardiovascular Pathology
Background:
- Cardiac amyloidosis and hypertrophic cardiomyopathy are distinct cardiac conditions.
- Both can lead to myocardial hypertrophy, observable via echocardiography.
- Differentiating these conditions is crucial for appropriate patient management.
Observation:
- This report details a specific case where cardiac amyloidosis presented with echocardiographic findings highly suggestive of hypertrophic cardiomyopathy.
- The clinical presentation and imaging characteristics were unusually similar between the two pathologies.
- Standard diagnostic methods were insufficient for clear differentiation in this instance.
Findings:
- The study identified a challenging case of cardiac amyloidosis.
- The condition mimicked hypertrophic cardiomyopathy to a significant degree.
- An endomyocardial biopsy was ultimately required to confirm the diagnosis of cardiac amyloidosis.
Implications:
- This case underscores the importance of considering cardiac amyloidosis in the differential diagnosis of myocardial hypertrophy, even when symptoms align with hypertrophic cardiomyopathy.
- Advanced diagnostic procedures, such as endomyocardial biopsy, may be essential in ambiguous cases.
- Accurate diagnosis is critical for guiding targeted therapy and improving patient outcomes in cardiac pathologies.
Abstract:
Both cardiac amyloidosis and hypertrophic cardiomyopathy may result in excessive hypertrophy of the myocardium, which can be seen on echocardiography. While in most patients the two conditions are easily differentiated, we present in this report a case of amyloidosis that mimicked hypertrophic cardiomyopathy so closely that it required endomyocardial biopsy to establish the diagnosis.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Rheumatic Heart Disease I: Introduction
