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Specific heart muscle disorders 

Specific heart muscle disorders

Chapter:
Specific heart muscle disorders
Author(s):

William J. McKenna

and Perry Elliott

DOI:
10.1093/med/9780199204854.003.160703_update_002

Update:

Expanded discussion of cardiac disease in amyloidosis, neuromuscular disorders, lysosomal diseases. New sections on glycogen storage diseases, mitochondrial diseases, Takotsubo cardiomyopathy, and hypereosinophilia and the heart.

Updated on 29 Oct 2015. The previous version of this content can be found here.
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date: 27 March 2017

Autoimmune rheumatic disorders and the vasculitides

Cardiovascular involvement is very common, but may be occult and often goes undetected. Any anatomical structure in the heart can be involved, hence patients may present with pericarditis, myocarditis, endocarditis, or coronary vasculitis. There is usually no correlation between the extent of systemic disease and cardiac involvement.

Systemic lupus erythematosus (SLE)—more than 50% have cardiovascular involvement at some time; 30% have clinical pericarditis; myocarditis can occasionally present with heart failure or arrhythmias; marantic endocarditis can be identified in at least 30% at autopsy, but is rarely clinically significant; neonates born to mothers with SLE who have anti-Ro/anti-La antibodies frequently develop complete heart block; atherosclerosis is the leading cause of late death in SLE.

Systemic sclerosis—symptomatic cardiac involvement is uncommon (10%), but is frequently detected at autopsy (60%), when the most common features are chronic pericarditis and myocardial fibrosis; pulmonary hypertension is common, usually secondary to lung involvement, and has a very poor prognosis.

Rheumatoid arthritis—10 to 15% have clinical cardiac involvement, 60% on echocardiography: pericarditis is most frequent, with up to 40% having an effusion on echocardiography; myocarditis is frequent at autopsy but rarely causes symptoms; vasculitis affecting epicardial arteries, nonspecific valvitis, and conduction disturbances are reported.

Seronegative arthropathies—associated with pancarditis, proximal aortitis, aortic incompetence, and varying degrees of conduction abnormalities.

Takayasu’s arteritis—proximal coronary arteries are involved in 15 to 20%; dilatation of the aortic root may cause aortic regurgitation; pulmonary artery aneurysms and stenoses are common; involvement of the renal arteries can cause malignant hypertension; aortic, coronary, pulmonary, and bronchial arterial fistulae are reported.

Kawasaki disease—myocarditis is frequent (35%) in the acute stage, often in association with a pericardial effusion; coronary artery involvement occurs in 20%, resulting in aneurysm formation and thrombotic occlusion, such that—in the longer term—patients can present with myocardial ischaemia.

Other conditions

Amyloid—in systemic AL (primary) amyloidosis up to 50% have cardiac involvement; systemic AA (secondary) amyloidosis is almost never associated with clinical cardiac amyloidosis; the heart is frequently involved in familial amyloid polyneuropathy caused by mutations in the transthyretin gene. The clinical picture most frequently mimics hypertrophic cardiomyopathy with restrictive physiology. The ECG may show diminished voltages, loss of R waves in precordial leads, and Q waves in the inferior leads. Echocardiography may show a characteristic ‘sparkling’ appearance to the myocardium, thickening of the heart valves and the interatrial septum, and pericardial effusions. Symptomatic heart disease typically occurs late in the course of amyloidosis and is an ominous feature.

Sarcoidosis—cardiac involvement is clinically apparent in less than 10% of cases, but sudden (presumed arrhythmic) death is not infrequent amongst these.

Endocrine disorders—diabetes is associated with an increased risk of developing heart failure; hyperthyroidism can cause a high-output state with symptoms of heart failure and echocardiographic demonstration of dilated cardiomyopathy and systolic dysfunction; hypothyroidism frequently causes pericardial effusion, but heart failure generally represents exacerbation of pre-existing cardiac disease by thyroid deficiency.

Neuromuscular disorders—myocardial dysfunction is common in the muscular dystrophies. In Duchenne and Becker muscular dystrophy (dystrophin gene mutations) the commonest abnormality is dilated cardiomyopathy; in laminopathies (lamin AC gene mutations) atrial arrhythmia, heart block, dilated cardiomyopathy and sudden cardiac death are frequent.

Inherited metabolic disorders—hereditary haemochromatosis causes thickening of the ventricular walls, dilatation of the ventricular chambers, and heart failure; cardiac disease is particularly important in lysosomal and glycogen storage diseases, including hypertrophic and dilated cardiomyopathy, arrhythmia, and valvular disease.

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