Related Experiment Video
Updated: Aug 5, 2026

Evaluation of Left Ventricular Structure and Function using 3D Echocardiography
Published on: October 28, 2020
This ECG Does Not Fit: Rethinking Left Ventricular Hypertrophy
Carlotta Perini Schweiger1, Giuseppe Allocca2, Giorgia Gugelmo3
1Department of Cardiac-thoracic-vascular sciences and Public health, University of Padua, Padua, Italy.
Insights
Late-onset Anderson-Fabry disease (AFD) is often missed in older adults with comorbidities. Electrocardiogram (ECG) changes can be key clues for diagnosing this rare cause of left ventricular hypertrophy (LVH).
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Anderson-Fabry disease (AFD) is a rare genetic disorder.
- It can present as left ventricular hypertrophy (LVH), often challenging to diagnose.
- Comorbidities in older patients can further complicate AFD diagnosis.
Background:
Anderson-Fabry disease (AFD) is a rare cause of left ventricular hypertrophy (LVH) that can be challenging to diagnose, particularly when comorbidities are present.
Case Summary:
We report a 70-year-old man with controlled hypertension, diabetes mellitus, chronic kidney disease, prior percutaneous coronary intervention on the left anterior descending artery, evaluated for progressive LVH and electrocardiogram (ECG) changes during follow-up. ECG showed an atypical pattern with right bundle branch block. Cardiac magnetic resonance then demonstrated reduced native T1 values. Genetic testing identified the p.N215S (p.Asn215Ser) GLA mutation, confirming late-onset AFD. Disease-specific management was subsequently initiated.
Discussion:
Late-onset AFD is frequently underdiagnosed, particularly in older patients with multiple cardiovascular comorbidities. Careful ECG analysis may provide key diagnostic clues and prompt advanced imaging and genetic testing.
Take-Home Messages:
AFD should be considered in older patients with unexplained LVH. Careful evaluation of ECG abnormalities may be sufficient to trigger targeted, second-level, diagnostic tests.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Electrocardiogram
Three major waveforms are present in a typical ECG recording: the P wave, the QRS complex, and the T...
Electrocardiogram Fundamentals
An electrocardiogram (ECG) is a diagnostic tool for identifying cardiac conditions such as arrhythmias, conduction abnormalities, and myocardial ischemia.
Definition
An electrocardiogram (ECG) visualizes the heart's electrical activity by tracing the electrical movement associated with each heartbeat on a graph or monitor. As the heart beats, an electrical wave passes through it, correlating with the cardiac cycle events.
Parts of an ECG
An ECG utilizes electrodes on the skin to...
Heart Failure II: Pathophysiology
Mitral Regurgitation I: Introduction
Aortic Regurgitation II: Clinical Features and Diagnostic Tests

