Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

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Abstract

Cardiomyopathies (CMPs) represent a diverse group of heart muscle diseases, grouped into specific morphological and functional phenotypes. CMPs are associated with mutations in sarcomeric and non-sarcomeric genes, with several suspected epigenetic and environmental mechanisms involved in determining penetrance and expressivity. The understanding of the underlying molecular mechanisms of myocardial diseases is fundamental to achieving a proper management and treatment of these disorders. Among these, inflammation seems to play an important role in the pathogenesis of CMPs. The aim of the present study is to review the current knowledge on the role of inflammation and the immune system activation in the pathogenesis of CMPs and to identify potential molecular targets for a tailored anti-inflammatory treatment.

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Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.

Perry Elliott, Bert Andersson, Eloisa Arbustini … (2008)

In biology, classification systems are used to promote understanding and systematic discussion through the use of logical groups and hierarchies. In clinical medicine, similar principles are used to standardise the nomenclature of disease. For more than three decades, heart muscle diseases have been classified into primary or idiopathic myocardial diseases (cardiomyopathies) and secondary disorders that have similar morphological appearances, but which are caused by an identifiable pathology such as coronary artery disease or myocardial infiltration (specific heart muscle diseases). In this document, The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases presents an update of the existing classification scheme. The aim is to help clinicians look beyond generic diagnostic labels in order to reach more specific diagnoses.

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Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Ali Marian, Eugene Braunwald (2017)

Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients and can be provoked in another third. The histological features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis. The hypertrophy is also frequently associated with left ventricular diastolic dysfunction. In the majority of patients, HCM has a relatively benign course. However, HCM is also an important cause of sudden cardiac death, particularly in adolescents and young adults. Nonsustained ventricular tachycardia, syncope, a family history of sudden cardiac death, and severe cardiac hypertrophy are major risk factors for sudden cardiac death. This complication can usually be averted by implantation of a cardioverter-defibrillator in appropriate high-risk patients. Atrial fibrillation is also a common complication and is not well tolerated. Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding β-myosin heavy chain and myosin-binding protein C, respectively, are the 2 most common genes involved, together accounting for ≈50% of the HCM families. In ≈40% of HCM patients, the causal genes remain to be identified. Mutations in genes responsible for storage diseases also cause a phenotype resembling HCM (genocopy or phenocopy). The routine applications of genetic testing and preclinical identification of family members represents an important advance. The genetic discoveries have enhanced understanding of the molecular pathogenesis of HCM and have stimulated efforts designed to identify new therapeutic agents.

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2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

Jeffrey A. Towbin, William J. McKenna, Dominic J. Abrams … (2019)

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a broad spectrum of genetic, systemic, infectious, and inflammatory disorders. This designation includes, but is not limited to, arrhythmogenic right/left ventricular cardiomyopathy, cardiac amyloidosis, sarcoidosis, Chagas disease, and left ventricular noncompaction. The ACM phenotype overlaps with other cardiomyopathies, particularly dilated cardiomyopathy with arrhythmia presentation that may be associated with ventricular dilatation and/or impaired systolic function. This expert consensus statement provides the clinician with guidance on evaluation and management of ACM and includes clinically relevant information on genetics and disease mechanisms. PICO questions were utilized to evaluate contemporary evidence and provide clinical guidance related to exercise in arrhythmogenic right ventricular cardiomyopathy. Recommendations were developed and approved by an expert writing group, after a systematic literature search with evidence tables, and discussion of their own clinical experience, to present the current knowledge in the field. Each recommendation is presented using the Class of Recommendation and Level of Evidence system formulated by the American College of Cardiology and the American Heart Association and is accompanied by references and explanatory text to provide essential context. The ongoing recognition of the genetic basis of ACM provides the opportunity to examine the diverse triggers and potential common pathway for the development of disease and arrhythmia.

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Author and article information

Journal

Journal ID (nlm-ta): Int J Mol Sci

Journal ID (iso-abbrev): Int J Mol Sci

Journal ID (publisher-id): ijms

Title: International Journal of Molecular Sciences

Publisher: MDPI

ISSN (Electronic): 1422-0067

Publication date (Electronic): 04 September 2020

Publication date Collection: September 2020

Volume: 21

Issue: 18

Electronic Location Identifier: 6462

Affiliations

[1 ]Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, 80131 Naples, Italy; emanuelemonda@ 123456me.com (E.M.); g.palmiero@ 123456hotmail.it (G.P.); rubinomarta@ 123456libero.it (M.R.); fedeverrillo@ 123456gmail.com (F.V.); amodio.federica@ 123456yahoo.it (F.A.); fyrent@ 123456libero.it (F.D.F.); pacileoroberta@ 123456gmail.com (R.P.); fimianifabio@ 123456hotmail.it (F.F.); augustoesposito1990@ 123456gmail.com (A.E.); cirilloannapaola@ 123456gmail.com (A.C.); adelaidefusco@ 123456hotmail.it (A.F.); elisabetta.moscarella@ 123456gmail.com (E.M.); mariagiovanna.russo@ 123456unicampania.it (M.G.R.); gpacielo58@ 123456gmail.com (G.P.); paolo.calabro@ 123456unicampania.it (P.C.); martina.caiazza@ 123456yahoo.it (M.C.)

[2 ]Dipartimento di Medicina Molecolaree Biotecnologie Mediche, University of Naples “Federico II”, 80138 Naples, Italy; gfrisso@ 123456unina.it (G.F.); olga.scudiero@ 123456unina.it (O.S.)

[3 ]CEINGE-Biotecnologie Avanzate Scarl, Via G. Salvatore 486, 80138 Naples, Italy

[4 ]Task Force sugli Studi del Microbioma, University of Naples “Federico II”, 80138 Naples, Italy

[5 ]Institute of Cardiovascular Sciences, University College of London and St. Bartholomew’s Hospital, London WC1E 6DD, UK

Author notes

[* ]Correspondence: limongelligiuseppe@ 123456libero.it ; Tel.: +39-8-1706-2815

[†]

Member of ERN GUARD-HEART (European Reference Network for Rare and Complex Diseases of the Heart).

Author information

Giuseppe Palmiero https://orcid.org/0000-0002-5102-7460

Giulia Frisso https://orcid.org/0000-0003-3487-7743

Paolo Calabrò https://orcid.org/0000-0002-5018-830X

Olga Scudiero https://orcid.org/0000-0002-4916-4976

Article

Publisher ID: ijms-21-06462

DOI: 10.3390/ijms21186462

PMC ID: 7554875

PubMed ID: 32899712

SO-VID: c4679208-f3e8-4b2c-95ba-fe04c8be13ce

License:

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

History

Date received : 07 August 2020

Date accepted : 02 September 2020

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Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

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Most cited references 67

Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.

Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

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