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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hypertrophic and hypertensive hypertrophic cardiomyopathy--a true association?
Dimitris P Papadopoulos1, Vasilios Papademetriou
1Hypertension Clinic, Department of Cardiology, Laiko University Hospital, Athens, Greece. jimpapdoc@yahoo.com
Insights
Cardiomyopathies, once defined by unknown causes, now encompass specific heart muscle diseases linked to known disorders. This review focuses on hypertensive hypertrophic cardiomyopathy, exploring its pathophysiology, diagnosis, and potential genetic links.
Area of Science:
- Cardiology
- Pathophysiology
- Genetics
Background:
- Cardiomyopathies were historically defined as heart muscle diseases of unknown etiology.
- Increasing understanding has blurred the lines between idiopathic cardiomyopathies and specific heart muscle diseases.
- Specific cardiomyopathies are now recognized as heart diseases associated with specific cardiac or systemic disorders.
Purpose of the Study:
- To review hypertensive hypertrophic cardiomyopathy, a syndrome characterized by severe cardiac hypertrophy and distinct functional indices.
- To elucidate the pathophysiological, clinical, and diagnostic aspects of this specific cardiomyopathy.
- To explore potential correlations with genetic, inflammatory, and other markers.
Main Methods:
- Literature review focusing on pathophysiological, clinical, and diagnostic features.
- Analysis of existing data on hypertensive hypertrophic cardiomyopathy.
- Exploration of etiological and pathogenetic factors, including genetic and inflammatory markers.
Main Results:
- Hypertensive hypertrophic cardiomyopathy presents with severe concentric cardiac hypertrophy, a small left ventricular cavity, and supernormal systolic function.
- This syndrome occurs in the absence of concurrent medical illness or ischemic heart disease.
- The classification of cardiomyopathies is increasingly based on dominant pathophysiology or etiological factors.
Conclusions:
- The distinction between cardiomyopathy and specific heart muscle disease has evolved with advancing etiological understanding.
- Hypertensive hypertrophic cardiomyopathy represents a distinct clinical entity requiring comprehensive evaluation.
- Further research into genetic and inflammatory markers is crucial for a complete understanding of specific cardiomyopathies.
Abstract:
The cardiomyopathies were previously defined as ''heart muscle diseases of unknown cause'' and were differentiated from specific heart muscle disease with known cause. With increasing understanding of etiology and pathogenesis, the difference between cardiomyopathy and specific heart muscle disease has become indistinct. The term specific cardiomyopathies are used to describe heart diseases that are associated with specific cardiac or systemic disorders. These were previously defined as specific heart muscle diseases. They included ischemic cardiomyopathy, valvular cardiomyopathy, hypertensive cardiomyopathy, inflammatory cardiomyopathy, metabolic cardiomyopathy, general system disease, muscular dystrophies, sensitivity and toxic reactions, and peripartal cardiomyopathy. The cardiomyopathies are therefore classified by the dominant pathophysiology or, if possible, by etiological/pathogenetic factors. Topol in 1985 described a syndrome called hypertensive hypertrophic cardiomyopathy that included severe concentric cardiac hypertrophy, a small left ventricular cavity, and supernormal indexes of systolic function without concurrent medical illness or ischemic heart disease. The aim of this review was to highlighted this syndrome from pathophysiological, clinical, diagnostical view and clear all the possible correlations with genetic, inflammatory, and other markers.
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