The cardiomyopathies are an important, heterogeneous group of heart muscle diseases that make a significant contribution to morbidity and mortality.[1] They are associated with mechanical and/or electrical dysfunction. Inappropriate ventricular hypertrophy or dilatation is usually present.[1] Cardiomyopathy involvement may be predominantly limited to the heart (primary cardiomyopathy) or form part of a generalized systemic disorder (secondary cardiomyopathy). Causes vary widely, but genetic etiologies are most common in primary cardiomyopathies. Complications include cardiovascular death and progressive heart failure, with its associated disability.[1]
Summary
Classifications
In 1995, the World Health Organization/International Society and Federation of Cardiology Task Force classified cardiomyopathies as primary myocardial disorders, whereas heart muscle diseases of known etiology or associated with systemic diseases were categorized as secondary or specific heart muscle diseases.[2] However, as research has improved the understanding of these conditions, working groups on both sides of the Atlantic have proposed new but different classification systems.
The scientific statement from the American Heart Association has defined cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or are part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failure-related disability."[1]
- Primary cardiomyopathies are those where the condition is predominantly confined to the heart muscle and where subclassifications of genetic, mixed, and acquired are adopted.
- Secondary cardiomyopathies are those where myocardial involvement occurs as part of a systemic or multiorgan disorder.
The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases has opted to use a clinical rather than genetic classification, where heart muscle disorders are classified according to morphology and function: "a myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality."[3] Its members felt that many primary cardiomyopathies have significant extracardiac manifestations and that many secondary cardiomyopathies may involve the heart as the major manifestation.Image
It is important to recognize that the traditional classification into hypertrophic, dilated, and restrictive cardiomyopathies mixes anatomical with functional designations, which are not mutually exclusive.Image
The American Heart Association published a separate scientific statement in 2019, covering the classification and diagnosis of cardiomyopathy in children.[4] This favours a classification for pediatric cases based primarily on the structural and functional phenotype (which forms the basis for diagnosis and management), with genetic and nongenetic causes as lower-level subcategories.
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Diseases that may cause cardiomyopathy
Proposed classification system
Apical hypertrophic cardiomyopathy: 4-chamber echocardiographic view with contrast
Two echocardiographic criteria (Chin et al and Jenni et al) for diagnosing left ventricular noncompaction (LVNC): A. Parasternal short-axis view demonstrating the crescentic shape of the right ventricular cavity and the area of noncompacted myocardium in the left ventricular apex. B. Chin criteria. To quantify the depth of penetration of the intertrabecular recesses Chin et al proposed an X-to-Y ratio, where X represents the distance between the epicardial surface to the trough of the trabecular recesses and Y the distance between the epicardial surface and the peak of trabeculation. LVNC using these criteria is defined by a ratio of X/Y ≤ 0.5. C. Jenni criteria. Describes the left ventricular wall as being made up of two layers, namely an outer compacted layer C, contiguous with the epicardium, and an inner noncompacted layer N. The end-systolic thickness of the noncompacted and compacted layer is taken at the area of maximal left ventricular wall thickness in the parasternal short-axis view. A ratio of NC/C >2 is suggestive of LVNC
Dilated cardiomyopathy: echocardiogram
Left ventriculogram demonstrating apical ballooning in tako-tsubo cardiomyopathy
Citations
Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur Heart J. 2023 Oct 1;44(37):3503-626.[Abstract][Full Text]
Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association joint committee on clinical practice guidelines. Circulation. 2020 Dec 22;142(25):e558-631.[Abstract][Full Text]
Nagueh SF, Phelan D, Abraham T, et al. Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: an update from the American Society of Echocardiography, in collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography. J Am Soc Echocardiogr. 2022 Jun;35(6):533-69.[Abstract][Full Text]
American College of Radiology. ACR appropriateness criteria® Nonischemic myocardial disease with clinical manifestations (ischemic cardiomyopathy already excluded). May 2021 [internet publication].[Abstract][Full Text]
British Society of Echocardiography. Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol from the British Society of Echocardiography. Jun 2017 [internet publication].[Full Text]
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