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Diagnosis and Management of Dilated Cardiomyopathy

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Diagnosis and Management of Dilated Cardiomyopathy Heart 2000;84:106–112 CARDIOMYOPATHY Causes of dilated cardiomyopathy Heart: first published as 10.1136/heart.84.1.106 on 1 July 2000. Downloaded from Young Diagnosis and management of dilated x Myocarditis (infective/toxic/immune) cardiomyopathy x Carnitine deficiency 106 Perry Elliott x Selenium deficiency Department of Cardiological Sciences, x Anomalous coronary arteries St George’s Hospital Medical School, London, UK x Arteriovenous malformations x Kawasaki disease ilated cardiomyopathy is a heart mus- x Endocardial fibroelastosis cle disorder defined by the presence of Da dilated and poorly functioning left x Non-compacted myocardium ventricle in the absence of abnormal loading x Calcium deficiency conditions (hypertension, valve disease) or ischaemic heart disease suYcient to cause glo- x Familial IDC bal systolic impairment. A large number of cardiac and systemic diseases can cause systo- x Barth syndrome lic impairment and left ventricular dilatation, Adolescent/adults but in the majority of patients no identifiable cause is found—hence the term “idiopathic” x Familial IDC dilated cardiomyopathy (IDC). There are experimental and clinical data in animals and x X linked humans suggesting that genetic, viral, and x Alcohol immune factors contribute to the pathophysi- ology of IDC. x Myocarditis (infective/toxic/immune) x Tachycardiomyopathy Diagnosis x Mitochondrial Clinical presentation x Arrhythmogenic right ventricular The first presentation of IDC may be with cardiomyopathy http://heart.bmj.com/ systemic embolism or sudden death, but x Eosinophilic (Churg Strauss syndrome) patients more typically present with signs and symptoms of pulmonary congestion and/or x Drugs—anthracyclines low cardiac output, often on a background of Peripartum exertional symptoms and fatigue for many x months or years before their diagnosis. Inter- x Endocrine current illness or the development of arrhyth- mia, in particular atrial fibrillation, may x Nutritional—thiamine, carnitine precipitate acute decompensation in such deficiency, hypophosphataemia, on September 29, 2021 by guest. Protected copyright. individuals. Increasingly, IDC is diagnosed hypocalcaemia incidentally in asymptomatic individuals during routine medical screening or family evaluation of patients with established diagnosis. family history, specific attention should be A careful family history facilitates diagnosis given to a history of muscular dystrophy, of inherited causes of IDC by characterising features of mitochondrial disease (for exam- the family phenotype, and also defines the ple, familial diabetes, deafness, epilepsy, ma- 1 scope of family screening. At least 25% of ternal inheritance), and signs and symptoms patients have evidence for familial disease with of other inherited metabolic diseases. Inborn predominantly autosomal dominant inherit- errors of metabolism usually present in ance. Clinically, familial disease is defined by infancy and childhood, but some may present the presence of two or more aVected indivi- in adulthood, in particular haemochromatosis. duals in a single family and should also be Nutritional deficiencies and endocrine abnor- suspected in all patients with IDC and a family history of premature cardiac death or conduc- malities may produce heart failure, and a tion system disease. A further 20% of relatives complete drug history is essential, both in Correspondence to: relation to the administration of cardiotoxic Dr PM Elliott, have isolated left ventricular enlargement that Department of can progress to IDC in a minority of cases. drugs such as anthracyclines and with respect Cardiological Dilated cardiomyopathy can occur in a to the use of illegal substances. Cocaine abuse, Sciences, St George’s number of X linked diseases such as Becker’s in particular, can produce a chronic IDC Hospital Medical and Duchenne’s muscular dystrophies and X picture as well as an acute cardiomyopathy. School, Cranmer Exposure to HIV and other infectious agents Terrace, London linked IDC. It may also occur in patients with SW17 0RE, UK mitochondrial DNA mutations and inherited such as hepatitis C may be relevant in some email:[email protected] metabolic disorders. Thus when taking a patients. Education in Heart Electrocardiography The ECG in patients with IDC may be Diagnostic criteria for IDC remarkably normal, but abnormalities ranging Ejection fraction < 0.45 and/or a fractional Heart: first published as 10.1136/heart.84.1.106 on 1 July 2000. Downloaded from from isolated T wave changes to septal Q waves shortening of < 25%, and a left ventricular end in patients with extensive left ventricular fibro- diastolic dimension of > 112% predicted value sis, prolongation of atrioventricular (AV) con- corrected for age and body surface area. duction, and bundle branch block may be observed. Sinus tachycardia and supraven- Exclusion criteria: 107 tricular arrhythmias are common, in particular x Absence of systemic hypertension atrial fibrillation. Approximately 20–30% of (> 160/100 mm Hg) patients have non-sustained ventricular tachy- cardia and a small number present with x Coronary artery disease (> 50% in one or sustained ventricular tachycardia. more major branches) Echocardiography x Chronic excess alcohol (> 40 g/day female, An echocardiogram is essential for the diagno- > 80 g/day male for more than five years sis of IDC (fig 1). In patients with poor echo after six month abstinence windows other imaging modalities such as radionuclide scans and magnetic resonance x Systemic disease known to cause IDC may be useful. Recently suggested echocardio- x Pericardial diseases graphic criteria for IDC are shown in the adja- cent box. When making the diagnosis of IDC it x Congenital heart disease is important to take into account sex and body size. The most widely applied criteria in family x Cor pulmonale studies are based on the Henry formulae, with a left ventricular cavity dimension of > 112% Key of predicted normal values used to define left The criteria for left ventricular enlargement ventricular enlargement and a shortening frac- are based on data of Henry et al (Circulation tion of < 25% defining abnormal systolic func- 1980;62:1054–61). A value of > 112% of pre- tion. These criteria have some limitations, in dicted represents 2 SDs from the mean particular the use of only short axis dimensions corrected for body surface area and age given and a relatively low specificity in young by the formula: patients, but they are practical and reproduc- (45.3 × (body surface area)1/3 − (0.03 × age) ible. Recent European guidelines have sug- − 7.2) ±12%. gested that when screening family members a Mestroni et al have suggested a more conserva- more conservative cut oV of > 117% of tive cut oV of > 117% (2 SDs + 5%) in order http://heart.bmj.com/ predicted values (2 SD plus 5%) should be to increase specificity for family studies.1 used in order to increase specificity.1 However, a value of 112% is probably just as predictive of disease if systolic function is also Exercise testing abnormal. Symptom limited upright exercise testing is of considerable value when assessing functional limitation in patients with IDC, particularly cated enterovirus, coxsackie B, is ubiquitous in when combined with respiratory gas analysis. most communities and causes small subclinical Metabolic exercise testing provides an objec- epidemics. At present, the detection of viral on September 29, 2021 by guest. Protected copyright. tive measure of exercise capacity, facilitates antibodies in patients with stable chronic IDC assessment of disease progression, helps assess has little impact on management, but viral prognosis, and is useful in selecting patients for studies may become more important in the cardiac transplantation. Metabolic exercise future if current trials suggest a role for testing may also provide diagnostic infor- immunosuppressive/modulatory treatments in mation in patients with left ventricular impair- IDC. ment caused by primary metabolic abnormali- ties such as mitochondrial disease, by detecting Endomyocardial biopsy severe acidaemia. Although endomyocardial biopsy can be used to diagnose a wide range of myocardial Viral serology diseases, most are rare causes of IDC and can In children and adults with acute myocarditis, often be diagnosed by other means. Even the viral culture and serology may be useful in detection of an inflammatory cardiomyopathy establishing a diagnosis of viral myocarditis by is of limited use, given the uncertainties and demonstrating rising titres of neutralising anti- inconsistencies surrounding its diagnosis using bodies, or virus specific IgM class antibodies to conventional light microscope criteria. Endo- enteroviruses indicative of recent infection. In myocardial biopsy may be of use in selected adults with IDC the relation between viral patients—for example, those with suspected infection and disease is more uncertain. Many cardiac haemochromatosis and other infiltra- studies purporting to demonstrate a positive tive or malignant diseases—but in general it association between viral infection and IDC are should be confined to carefully conducted very small, and have failed to control for cross clinical trials. A number of immunohistological contamination with laboratory controls.2 The studies have already demonstrated increased source of disease and control populations is numbers of T cells and increased expression of also important as the most commonly impli- endothelial and interstitial MHC (major histo- Education in Heart Heart: first published as 10.1136/heart.84.1.106
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