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Cardiomyopathies are a common disorder resulting from a variety of causes that lead to impaired cardiac function and often result in congestive heart failure (3). Despite recent advances, congestive heart failure remains a major cause of morbidity, hospitalizations and mortality, and accounts for a large proportion of health care expenditures in developed countries. Despite coronary artery disease cardiomyopathies of various etiologies are the most important causes of heart failure. For this reason it is important to identify the underlying cause of cardiomyopathies in order to devise an appropriate treatment strategy.
In this context the role of endomyocardial biopsy (EMB) in diagnosis and treatment of cardiomyopathies remains controversial (4), and the practice varies widely even among cardiovascular centers. A need for EMB exists because specific myocardial disorders that have unique prognoses and treatment are seldom diagnosed by noninvasive testing (1).
Ardeheli et al. for example evaluated 845 patients with initially unexplained cardiomyopathy who underwent EMB between 1982 and 1997. For each patient, an initial clinical diagnosis, an EMB based diagnosis, and a final diagnosis prior to discharge based on all available data was established. The final diagnosis differed from the initial clinical diagnosis in 264 (31%) of these patients and EMB made the diagnosis in 196 (75%) of these cases. Initial diagnoses most frequently altered were myocarditis (34%) and idiopathic cardiomyopathy (25%). Initial diagnoses least likely to be altered were those in which biopsy was used to confirm or grade a previously documented illness, such as hemochromatosis (11%) or amyloidosis (18%). EMB was more sensitive than clinical diagnosis and proved to be very specific in detecting myocarditis, hemochromatosis and amyloidosis. The conclusion was drawn that in patients with unexplained cardiomyopathy after a standard evaluation, the clinical assessment of the etiology is inaccurate in 31% of patients. EMB establishes the final diagnosis in 75% of these patients with a high degree of specificity.
To define the current role of EMB in the management of cardiovascular disease, a multidisciplinary group of experts in cardiomyopathies and cardiovascular pathology was convened by the American Heart Association (AHA), the American College of Cardiology (ACC), and the European Society of Cardiology (2). This Writing Group was charged with reviewing the published literature on the role of EMB in cardiovascular diseases, summarized this information, and made useful recommendations for clinical practice with classifications of recommendations and levels of evidence for investigation of endomyocardial biopsy. The novel result of this effort is a set of distinct clinical scenarios from which a practical decision to proceed with EMB can be made.
The clinical reason for the biopsy determines how many samples are removed and how they are fixed. In general, at least 2-3 samples are submitted for light microscopic examination, but transmission electron microscopy may also be helpful for the assessment of suspected infiltrative disorders such as amyloidosis, glycogen storage diseases, lysosomal storage diseases, and occasionally viral myocarditis. 2-3 pieces may be snap-frozen at -80°C for molecular studies, immunofluorescence, or immunohistochemistry that may be required for suspected myocarditis, storage diseases, tumor typing, amyloid classification, or viral genome analysis.
1. Ardehali H, Qasim A, Cappola T. Howard D, Hruban R, Hare JM, Baughman KL, Kasper EK. Endomyocardial biopsy plays a role in diagnosing patients with unexplained cardiomyopathy. Am Heart J 2004;147:919 - 23.
2. Cooper LT, Baughman K, Feldman AM, Frustaci A, Jessup M, Kuhl U, Levine GN, Narula J, Starling RC, Towbin J, Virmani R. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. J Am Coll Cardiol 2007;50:1914 –31.
This article has been copublished in the November 6, 2007, issue of Circulation and in the European Heart Journal.
3. Elliott P, Andersson B, Arbustin E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases. Eur Heart J 2007; 29(2):270-6
4. Wu LA, Lapeyre III AC, Cooper LT. Current role of endomyocardial biopsy in the management of dilated cardiomyopathy and myocarditis.
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