scholarly journals Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

2021 ◽  
Vol 10 (9) ◽  
pp. 1954
Author(s):  
Riccardo Vio ◽  
Annalisa Angelini ◽  
Cristina Basso ◽  
Alberto Cipriani ◽  
Alessandro Zorzi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Glycogen Storage ◽  
Left Ventricular ◽  
Pathophysiological Mechanism ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Similar Genetic Background ◽  
Ventricular Wall Thickness ◽  
And Storage

Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These “sarcomeric cardiomyopathies” also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. To further complicate this scenario some infiltrative (amyloidosis) and storage diseases (Fabry disease and glycogen storage diseases) may show either a hypertrophic or restrictive phenotype according to left ventricular wall thickness and filling pattern. Establishing a correct etiological diagnosis among HCM, primary RCM, and hypertrophic or restrictive phenocopies is of paramount importance for cascade family screening and therapy.

scholarly journals Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

2021 ◽  
Vol 9 ◽  
Author(s):  
Emanuele Monda ◽  
Marta Rubino ◽  
Michele Lioncino ◽  
Francesco Di Fraia ◽  
Roberta Pacileo ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Neuromuscular Diseases ◽  
Glycogen Storage ◽  
Left Ventricular ◽  
Diagnosis And Treatment ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Mortality And Morbidity ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders.

Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy

2005 ◽  
Vol 352 (4) ◽  
pp. 362-372 ◽  
Author(s):  
Michael Arad ◽  
Barry J. Maron ◽  
Joshua M. Gorham ◽  
Walter H. Johnson ◽  
J. Philip Saul ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

scholarly journals Cardiomyopathies: An Overview

2021 ◽  
Vol 22 (14) ◽  
pp. 7722
Author(s):  
Tiziana Ciarambino ◽  
Giovanni Menna ◽  
Gennaro Sansone ◽  
Mauro Giordano
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Dilated Cardiomyopathy ◽  
Sudden Cardiac Arrest ◽  
Restrictive Cardiomyopathy ◽  
The United States ◽  
Abrupt Onset ◽  
Left Ventricular ◽  
Arrhythmogenic Cardiomyopathy ◽  
Athletic Field ◽  
Fibrofatty Tissue

Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart. Aims: The purpose of this narrative review is to focus on the most important cardiomyopathies and their epidemiology, diagnosis, and management. Methods: Clinical trials were identified by Pubmed until 30 March 2021. The search keywords were “cardiomyopathies, sudden cardiac arrest, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy, arrhythmogenic cardiomyopathy (ARCV), takotsubo syndrome”. Results: Hypertrophic cardiomyopathy (HCM) is the most common primary cardiomyopathy, with a prevalence of 1:500 persons. Dilated cardiomyopathy (DCM) has a prevalence of 1:2500 and is the leading indication for heart transplantation. Restrictive cardiomyopathy (RCM) is the least common of the major cardiomyopathies, representing 2% to 5% of cases. Arrhythmogenic cardiomyopathy (ARCV) is a pathology characterized by the substitution of the myocardium by fibrofatty tissue. Takotsubo cardiomyopathy is defined as an abrupt onset of left ventricular dysfunction in response to severe emotional or physiologic stress. Conclusion: In particular, it has been reported that HCM is the most important cause of sudden death on the athletic field in the United States. It is needless to say how important it is to know which changes in the heart due to physical activity are normal, and when they are pathological.

A novel starch for the treatment of glycogen storage diseases

2007 ◽  
Vol 30 (3) ◽  
pp. 350-357 ◽  
Author(s):  
K. Bhattacharya ◽  
R. C. Orton ◽  
X. Qi ◽  
H. Mundy ◽  
D. W. Morley ◽  
...  
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Novel Starch

The Dyslipidoses, Raúl Fleischmajer. Springfield, Thomas, 1960, 509 pp., $16.00

PEDIATRICS ◽  
1960 ◽  
Vol 26 (6) ◽  
pp. 914-914
Author(s):  
Benjamin H. Landing
Keyword(s):  
Fatty Acids ◽  
Lipid Metabolism ◽  
Glycogen Storage ◽  
General Survey ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

This book begins with a general survey of the biochemistry and metabolism of fatty acids, glycerolipids, phospholipids, sphingolipids and cholesterol. A number of diseases involving "synthesis, transport or deposit" of these lipids are then reviewed, not including disorders of metabolism of steroids other than cholesterol, nor the carotenoids. The descriptions of clinical and pathologic aspects of the various diseases of lipid metabolism vary from good to excellent, and the author demonstrates both judgement and willingness to take a stand in some of the more controversial fields, such as the glycogen storage diseases.

The Glycogen Storage Diseases and Related Disorders

2012 ◽  
pp. 115-139 ◽  
Author(s):  
Pascal Laforêt ◽  
David A. Weinstein ◽  
G. Peter A. Smit
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases
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