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Cardiomyopathy I: Introduction and Classification

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Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...

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Updated: May 12, 2026

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

Fabry cardiomyopathy.

Jae Yong Yoon¹, Joon Hyuk Song, Sang Soo Cheon

¹Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.

Journal of Cardiovascular Ultrasound

|April 6, 2013

Summary

Fabry disease, a genetic disorder, causes heart problems like left ventricular hypertrophy (LVH) due to enzyme deficiency. Early suspicion via echocardiography aids diagnosis of this progressive condition.

Keywords:

Alpha-galactosidase A Cardiomyopathies Fabry disease

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Area of Science:

Genetics and Metabolism
Cardiology
Rare Diseases

Background:

Fabry disease is an X-linked genetic disorder impacting glycosphingolipid metabolism.
Deficiency of the α-galactosidase A (α-Gal A) enzyme leads to harmful glycosphingolipid accumulation.
This accumulation can cause progressive left ventricular hypertrophy (LVH) and other organ damage.

Observation:

A 44-year-old male presented with worsening dyspnea and a history of renal transplantation.
Echocardiography revealed concentric left ventricular hypertrophy (LVH) with preserved systolic function but present diastolic dysfunction.
The patient had end-stage renal disease of unknown cause prior to transplantation.

Findings:

Low plasma α-galactosidase A (α-Gal A) activity confirmed the diagnosis.
Genetic analysis identified a mutation in the α-Gal A gene.
The clinical presentation and diagnostic findings were consistent with Fabry disease.

Implications:

Echocardiographic findings of LVH can prompt suspicion for Fabry disease.
Early diagnosis of Fabry disease is crucial for timely intervention and management.
This case highlights the importance of considering rare genetic disorders in patients with unexplained cardiac abnormalities.