Cardiomyopathy in a nutshell: from etiopathogenesis and diagnosis to treatment
DOI:
https://doi.org/10.18203/2320-6012.ijrms20241936Keywords:
Cardiomyopathies, Sudden cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathyAbstract
Cardiomyopathy is defined as a heterogeneous group of myocardial disorders wherein the cardiac muscle is functionally and structurally abnormal, without the presence of any congenital heart disease (CHD), coronary artery disease (CAD), valvular disease, and hypertension sufficient enough to lead to abnormality of the myocardium. Based on etiology, cardiomyopathies are classified into primary (acquired, mixed, or genetic) and secondary, which results in different phenotypes like hypertrophic, restrictive, dilated, etc. patterns. Hypertrophic cardiomyopathy is the most common type of primary cardiomyopathy among all cardiomyopathies usually presenting as exertional dyspnea, heart failure, atypical chest pain, syncope, and sudden cardiac death (SCD). Dilated cardiomyopathy is genetic or acquired, causing classic symptoms of heart failure with reduced ejection fraction. Restrictive cardiomyopathy is mostly associated with systemic disease and is rare. Diagnosis of cardiomyopathy includes a detailed evaluation of history, and physical examination followed by a workup including blood test, genetic testing, electrocardiography, and echocardiography testing. Treatment includes initially staging the therapy for heart failure, restriction of physical activity, evaluation of the need for implantable cardioverter-defibrillators, optimization of drugs, and consideration of heart transplantation in refractory cases. Genetic testing of families is now available as an emerging modality for early diagnosis and prevention in relatives of diagnosed cases. This review evaluates the causes, early diagnosis, and early treatment and prevention modalities for cardiomyopathies to reduce morbidity and mortality caused by it.
Metrics
References
Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups. Circulation. 2006;113(14):1807-16.
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br Heart J. 1980;44:672.
Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation. 1996;93(5):841-2.
Arbustini E, Narula N, Tavazzi L, Serio A, Grasso M, Favalli V, et al. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol. 2014;64(3):304-18.
ESC Guidelines for the management of cardiomyopathies. Available at: Escardio.org. Accessed on 1 April, 2024.
Mahmaljy H. Yelamanchili VS, Singhal M. Dilated Cardiomyopathy; StatPearls Publishing: Treasure Island, FL, USA. 2021.
Reichart D, Magnussen C, Zeller T, Blankenberg, S. Dilated cardiomyopathy: From epidemiologic to genetic phenotypes: A translational review of current literature. J Intern Med. 2019;286(4):362-72.
Weintraub RG, Semsarian C, Macdonald P. Dilated cardiomyopathy. Lancet. 2017;390(10092):400-14.
Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK. The Diagnosis and Evaluation of Dilated Cardiomyopathy. J Am Coll Cardiol. 2016;67(25):2996-3010.
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-28.
Merlo M, Cannatà A, Gobbo M, Stolfo D, Elliott PM, Sinagra G. Evolving concepts in dilated cardiomyopathy. Eur J Heart Fail. 2018;20(2):228-39.
Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733-79.
Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: A report of the American College of Cardiology Foundation/American Heart Association task force on practice guidelines. Circulation. 2011;124(24):e783-831.
Vulpian A. Contribution à l’étude des rétrécissements de l’orifi ce ventriculo-aortique. Arch Physiol. 1868;3:456-7.
Brock R. Functional obstruction of the left ventricle; acquired aortic subvalvar stenosis. Guys Hosp Rep. 1957;106:221-38.
Teare D. Asymmetrical hypertrophy of the heart in young adults. Br. Heart J. 1958;20:1-8.
Maron BJ. Clinical Course and Management of Hypertrophic Cardiomyopathy. N Engl J Med. 2018;379(20:655.
Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults. Am J Med. 2004;116(1):14-8.
Marian AJ, Braunwald E. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017;121(7):749-70.
Garg L, Gupta M, Sabzwari SRA, Agrawal S, Agarwal M, Nazir T, et al. Atrial fibrillation in hypertrophic cardiomyopathy: Prevalence, clinical impact, and management. Heart Fail Rev. 2019;24(2):189-97.
Towbin JA, McKenna WJ, Abrams D, Ackerman MJ, Calkins H, Darrieux F, et al 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16(11):e301-72.
Marrone D, Zampieri F, Basso C, Zanatta A, Thiene G. History of the discovery of Arrhythmogenic Cardiomyopathy. Eur Heart J. 2019;40(14):1100-4.
Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation. 2010;121(13):1533-41.
Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study. J Am Coll Cardiol. 1997;30(6):1512-20.
Zorzi A, Rigato I, Pilichou K, Marra MP, Migliore F, Mazzotti E, et al. Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy. Europace. 2016;18(7):1086-94.
Cerrone M, Noorman M, Lin X, Chkourko H, Liang F, Van der Nagel R, et al. Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. Cardiovasc Res. 2012;95(4):460-68.
Corrado D, Wichter T, Link MS, Hauer RNW, Marchlinski FE, Anastasakis A, et al. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: An International Task Force Consensus Statement. Circulation. 2015;132(5):441-53.
Leya FS, Arab D, Joyal D, Shioura KM, Lewis BE, Steen LH, et al. The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy. J Am Coll Cardiol. 2005;45:1900-2.
Amaki M, Savino J, Ain DL, Sanz J, Pedrizzetti G, Kulkarni H, et al. Diagnostic concordance of echocardiography and cardiac magnetic resonance-based tissue tracking for differentiating constrictive pericarditis from restrictive cardiomyopathy. Circ. Cardiovasc. Imaging. 2014;7(5):819-27.
Selvaganesh M, Arul AS, Balasubramanian S, Ganesan N, Mohammed SN, Sivakumar GS, et al. An unusual ECG pattern in restrictive cardiomyopathy. Indian Heart J. 2015;67(4):362-7.
Habib G, Bucciarelli-Ducci C, Caforio ALP, Cardim N, Charron P, Cosyns B, et al. Multimodality Imaging in Restrictive Cardiomyopathies: An EACVI expert consensus document in collaboration with the “Working Group on myocardial and pericardial diseases” of the European Society of Cardiology Endorsed by The Indian Academy of Echocardiography. Eur. Heart J. Cardiovasc. Imaging. 2017;18(10):1090-121.
Nagueh SF, Smiseth OA, Appleton CP, Byrd BF 3rd, Dokainish H, Edvardsen T, et al. Recommendations for the evaluation of left ventricular diastolic function by echocardiography: An update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging. 2016;17(12):1321-60.
Seward JB, Casaclang-Verzosa G. Infiltrative cardiovascular diseases: Cardiomyopathies that look alike. J Am Coll Cardiol. 2010;55:1769-79.
Patel AR, Kramer CM. Role of Cardiac Magnetic Resonance in the Diagnosis and Prognosis of Nonischemic Cardiomyopathy. JACC Cardiovasc. Imaging. 2017;10(10pt1):1180-93.
Karamitsos TD, Francis JM, Selvanayagam JB, Neubauer S. The Role of Cardiovascular Magnetic Resonance Imaging in Heart Failure. J Am Coll Cardiol. 2009;54(15):1407-24.
Kolte D, Khera S, Aronow WS, Palaniswamy C, Mujib M, Ahn C, et al. Temporal trends in incidence and outcomes of peripartum cardiomyopathy in the United States: A nationwide population-based study. J Am Heart Assoc. 2014;3(3):e001056.
Ono R, Falcão LM. Takotsubo cardiomyopathy systematic review: Pathophysiologic process, clinical presentation and diagnostic approach to Takotsubo cardiomyopathy. Int J Cardiol. 2016;209:196-205.
Patten IS, Rana S, Shahul S, Rowe GC, Jang C, Liu L, et al. Cardiac angiogenic imbalance leads to peripartum cardiomyopathy. Nature. 2012;485(7398):333-8.
Homans DC. Peripartum cardiomyopathy. N Engl J Med. 1985;312(22):1432.
Blauwet LA, Cooper LT. Diagnosis and management of peripartum cardiomyopathy. Heart. 2011;97:1970.
Ono R, Falcão LM. Takotsubo cardiomyopathy systematic review: Pathophysiologic process, clinical presentation and diagnostic approach to Takotsubo cardiomyopathy. Int J Cardiol. 2016;209:196-205.
Tan TC, Neilan TG, Francis S, Plana JC, Scherrer-Crosbie M. Anthracycline-Induced Cardiomyopathy in Adults. Compr Physiol. 2015;5(3):1517.
Plana JC, Galderisi M, Barac A, Ewer MS, Ky B, Scherrer-Crosbie M, et al. Expert consensus for multimodality imaging evaluation of adult patients during and after cancer therapy: A report from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr. 2014;27(9):911.
Linhart A, Germain DP, Olivotto I, Akhtar MM, Anastasakis A, Hughes D, et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020;22:1076-96.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554-68.
Downloads
Published
How to Cite
Issue
Section
