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Restrictive cardiomyopathy: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Restrictive cardiomyopathy is characterized by the presence of inextensible ventricular walls, which resist diastolic filling. One or both ventricles, more often left, are affected. Symptoms of restrictive cardiomyopathy include fatigue and dyspnoea with physical exertion. The diagnosis is established echocardiographically. Treatment of restrictive cardiomyopathy is often ineffective, and it is better if it is directed at the cause. Sometimes surgical treatment is effective.
Restrictive cardiomyopathy (RCM) is the least common form of cardiomyopathy. It is divided into non-litter (infiltration of the myocardium by a pathological substance) and obliterans (fibrosis of endocardium and subendocardium). In addition, the diffuse and focal type is distinguished (when changes concern only one ventricle or part of one ventricle).
ICD-10 code
142.5. Other restrictive cardiomyopathy.
Causes of restrictive cardiomyopathy
Restrictive cardiomyopathy is referred to the group of CMP of mixed genesis, i.e. Having features of both hereditarily caused and acquired disease.
Restrictive changes in the myocardium can be caused by various local and systemic states. It is customary to isolate the primary (idiopathic) and secondary forms of restrictive cardiomyopathy.
Causes of restrictive changes in the myocardium
Myocardial:
- Noninfractive.
- Idiopathic RSCM.
- Family ILC.
- Hypertrophic CML.
- Scleroderma.
- Elastoma (pseudoxantoma elasticum).
- Diabetic cMYP.
- Infiltrative.
- Amyloidosis.
- Sarcoidosis.
- Fat infiltration.
- Gaucher's disease.
- Fabry's disease.
- Diseases of accumulation.
- Hemochromatosis.
- Glycogenoses.
Endomiocardial:
- Endomyovascular fibrosis.
- Hypereosinophilic syndrome.
- Carcinoid.
- Metastatic damage.
- Radiation irradiation.
- Toxic effects of anthracycline.
- Medicinal products (preparations of mercury, bisulfan, serotonin, metisergid, ergotamine).
Idiopathic restrictive cardiomyopathy is a "diagnosis-exclusion", a condition in which typical morphological (interstitial fibrosis) and physiological (restriction) changes develop when it is impossible to determine the specific causes of their appearance.
Can develop at any age. There are cases of family illness. There is an association with myopathies of skeletal musculature.
Currently, among the genetic factors that cause RCMP, there are: mutations of sarcomere protein [troponin I (RCMF +/- HCMP), light chains of essential myosin], familial amyloidosis [transthyretin (RCMP + neuropathy), and polypeptide + neuropathy)], desminopathy, elastomu (pseudoxantoma elasticum), hemochromatosis, Andderol-Fabry disease, glycogenoses.
To diseases and conditions that cause secondary restrictive cardiomyopathy (non-family or non-genetic form, ESC, 2008) include: amyloidosis, scleroderma, endomyocardial fibrosis [hypereosinophilic syndrome, idiopathic fibrosis, chromosomal abnormalities, drugs (serotonin, metisergid, ergotamine, mercury preparations, bisulfan)], carcinoid heart disease, metastatic damage - radiation, anthracycline.
Amyloidosis
Heart involvement is most likely in primary amyloidosis and proves to be an adverse predictor. Amyloid deposits infiltrate and even replace normal myocardial contractile units. The myocardium becomes rigid, dense, thickened, but dilatation of the cavities usually does not develop. In echocardiography, myocardium infiltrated with amyloid appears bright, granular. The deposition of amyloid in the atria, atrioventricular zone leads to various disturbances in rhythm and conductivity. To clarify the diagnosis, it is possible to use endomyocardial biopsy
Scleroderma
Restrictive cardiomyopathy can develop with systemic scleroderma. One of the mechanisms of cardiovascular damage in scleroderma is the development of progressive myocardiofibrosis, which causes severe diastolic dysfunction of the myocardium.
Endomiocardial fibrosis and Leffler's eosinophilic cardiomyopathy.
Both conditions are associated with hypereosinophilia and Leffler's eosinophilic endocarditis. They are found, as a rule, in North Africa and South America.
Infiltration with hypereosinophilic syndrome primarily affects the endocardial ventricles and atrioventricular valves. Thickening of the endocardium, parietal thrombosis and endomyocardial fibrosis lead to a decrease in cavities (partial obliteration) and a violation of filling of the ventricles. Characterized by the presence of mitral and tricuspid regurgitation, as well as an increase in the atria. Most patients die within two years of the onset of the disease.
Other infiltrative diseases and accumulation diseases
Restrictive changes in the myocardium can be detected with many infiltrative diseases.
Boleen Gaucher - a disease in which there is an accumulation of cerebroside in the organs due to a deficiency of the enzyme beta-glucocerebrosidase.
Hurler's syndrome is characterized by the deposition of mucopolysaccharides in myocardial interstitium, valves, artery walls.
Fabry disease is a hereditary disorder of glycosphingolipid exchange leading to intracellular accumulation of glycolipids.
Hemochromatosis is a hereditary disease of iron metabolism, leading to its accumulation in organs, including the myocardium. The defeat of the heart, as a rule, develops after the development of diabetes and cirrhosis of the liver.
In systemic sarcoidosis, the development of interstitial granulomatous inflammation in the myocardium with violation of diastolic function, as well as the development of arrhythmias and blockades. In the future, fibrosis and violation of contractility of the myocardium develop. Cardiac involvement in sarcoidosis can have different variants of the course: subclinical, slow progressing or fatal, with the development of sudden death due to rhythm disturbances and conduction. The foci of myocardial involvement can be established by scintigraphy with [ 201 TI | or [ 67 Ga] followed by endomyocardial biopsy.
Other restrictive conditions
Carcinoid heart disease is a later complication of carcinoid syndrome. The severity of the heart lesions is correlated with the degree of increase in serotonin and its metabolites in the blood. The main pathological sign is the formation of a fibrous plaque on the endocardium of the right heart, including valves. This leads to diastolic dysfunction of the right ventricle, tricuspid regurgitation and systemic venous congestion.
Drug-induced restrictive cardiomyopathy can develop with antitumor drugs of the anthracycline group, serotonin, antimigraine drug metisergid, ergotamine, anorectics (phentermine) and some others (mercury preparations, bisulfane).
The defeat of the heart with radiation exposure (radiation sickness of the heart) can also lead to RCMF. Most of these cases develop as a complication of local radiotherapy of the mediastinum, usually about Hodgkin's disease.
Pathogenesis of restrictive cardiomyopathy
The pathogenesis of restrictive cardiomyopathy has been studied quite well. Some disorders that cause restrictive cardiomyopathy also affect other tissues. Infiltration of the myocardium with amyloid (amyloidosis) or iron (hemochromatosis) is also usually accompanied by damage to other organs, sometimes amyloidosis affects the coronary arteries. Sarcoidosis and Fabry's disease can also lead to pathology of the conduction system. Leffler's syndrome (a variant of hypereosinophilic syndrome with primary cardiac involvement), which occurs in tropical countries, begins as an acute arteritis with eosinophilia, accompanied by the formation of thrombi on the endocardium, chords and atrioventricular valves, and then progresses with outcome in fibrosis. Endocardial fibroelastosis, occurring in temperate zones, damages only the left ventricle.
Thickening of the endocardium or infiltration of the myocardium (sometimes with death of myocytes, infiltration of papillary muscles, compensatory hypertrophy of the myocardium and fibrosis) can occur in one (usually the left) or both ventricles. As a result, dysfunction of the mitral or tricuspid valve develops, which leads to regurgitation. Functional regurgitation on AV valves can be the result of infiltration of the myocardium or thickening of the endocardium. If the tissue of the nodes and the conduction system is affected, the sinoatrial node functions poorly, which sometimes leads to different AV blockages.
As a result, diastolic dysfunction develops with a rigid, obstinate ventricle, reduced diastolic filling and high filling pressure, which leads to pulmonary venous hypertension. The systolic function may worsen if the compensatory hypertrophy of the infiltrated or fibrotic ventricles is inadequate. Intracavitary thrombi may form, leading to systemic embolism.
Symptoms of restrictive cardiomyopathy
The course of restrictive cardiomyopathy depends on the nature and severity of the heart lesions and can vary from subclinical to fatal, including sudden cardiac death.
For the early stages of restrictive heart disease is characterized by the appearance of weakness, rapid fatigue, paroxysmal nocturnal dyspnea. Angina is absent, except for some forms of amyloidosis.
At later stages, congestive heart failure develops without evidence of cardiomegaly, with predominance of right ventricular failure. Typically, a significant increase in central venous pressure, the development of hepatomegaly, ascites, swelling of the cervical veins. Symptoms of restrictive cardiomyopathy can be indistinguishable from the symptoms of constrictive pericarditis.
Conduction abnormalities are most common in amyloidosis and sarcoidosis, thromboembolic complications - with Leffler's cardiomyopathy.
Atrial fibrillation is characteristic of idiopathic restrictive cardiomyopathy.
Symptoms include dyspnea with physical exertion, orthopnea and (with right ventricular lesion) peripheral edema. The cause of fatigue is a violation of cardiac output due to an obstruction to ventricular filling. Atrial and ventricular arrhythmias, as well as AB-blockades are common, angina and fainting are rare. Symptoms are similar to those with constrictive pericarditis.
Where does it hurt?
Diagnosis of restrictive cardiomyopathy
A physical examination reveals a weakening of the heart tones, a low-amplitude and accelerated pulse on the carotid arteries, pulmonary rales and a pronounced swelling of the veins of the neck with a rapid decrease. IV heart tone (S 4 ) is almost always present. Ill heart tone (S 3 ) is less common, it must be differentiated from a precardial click with constrictive pericarditis. In some cases, there is a noise of functional mitral or tricuspid regurgitation, due to the fact that infiltration of the myocardium or endocardium or fibrosis alter chords or the configuration of the ventricles. Parodoxical pulse is not met.
For diagnosis, ECG, chest X-ray and echocardiography are necessary. In the ECG, non-specific changes are usually recorded in the form of changes in the ST segment and the tooth G, sometimes - low voltage. There may be abnormal Q-waves that are not associated with a previous MI. Sometimes left ventricular hypertrophy is found due to compensatory hypertrophy of the myocardium. On chest radiographs, the heart size often appears normal or reduced, but can be increased with late stage amyloidosis or hemochromatosis.
Echocardiography usually shows normal systolic function. Often there is an enlarged atrium and hypertrophy of the myocardium. With RCMP, the echocardiography of the myocardium is unusually bright due to amyloidosis. Echocardiography helps differentiate constrictive pericarditis with a thickened pericardium, while the paradoxical movement of the septum can occur in each of these diseases. In case of a dubious diagnosis, a CT scan is necessary to visualize the structure of the pericardium, and MRI can show pathological changes of the myocardium in diseases accompanied by its infiltration (for example, amyloid or iron).
The need for cardiac catheterization and myocardial biopsy is rare. If performed, catheterization reveals a high atrial pressure in restrictive cardiomyopathy, with a marked decrease in wave y and an early diastolic fall, accompanied by a high diastolic plateau in the ventricular pressure curve. Unlike the changes with constrictive pericarditis, the diastolic pressure in the left ventricle is usually several millimeters of mercury above that in the right. In angiography, ventricular cavities of normal size with normal or reduced systolic contraction are detected. There may be regurgitation on the AV valves. The biopsy helps to detect fibrosis and thickening of the endocardium, myocardial infiltration with iron or amyloid, and chronic myocardial fibrosis. Coronarography does not reveal pathology, except in cases when amyloidosis damages epicardial coronary arteries. Sometimes a catheterization of the heart does not provide diagnostic help, and occasionally a thoracotomy is recommended for the purpose of examining the pericardium.
Studies are needed to identify the most common causes of restrictive cardiomyopathy (for example, rectal biopsy in amyloidosis, iron exchange tests, or liver biopsy in hemochromatosis).
[13], [14], [15], [16], [17], [18]
Differential diagnosis of restrictive cardiomyopathy
In all cases of unexplained right ventricular failure, restrictive cardiomyopathy should be excluded.
RCMF should be differentiated first of all from constrictive pericarditis, which has similar hemodynamic changes. In contrast to RCMP, with constrictive pericarditis, successful surgical treatment is possible, so it is important to differentiate these states in a timely manner.
What do need to examine?
Treatment of restrictive cardiomyopathy
At the moment there are no specific methods for treating idiopathic and family forms of restrictive cardiomyopathy. This is possible only for certain secondary variants of it (for example, in hemochromatosis, amyloidosis, earkoidosis, etc.).
Treatment of restrictive cardiomyopathy is aimed at alleviating the symptoms and preventing complications.
Improvement of diastolic filling of the ventricles is achieved by monitoring heart rate (beta-blockers, verapamil).
Diuretics are prescribed to reduce pulmonary and systemic stagnation.
The role of ACE inhibitors in restrictive myocardial diseases is unclear.
Digoxin should be used only in cases of a significant decrease in the systolic function of the left ventricle.
With the development of AV blockade, there is a sharp decrease in the atrial fraction in the filling of the ventricles, which may require the installation of a two-chamber electric pacemaker.
Most patients with restrictive cardiomyopathy need antiplatelet or anticoagulant treatment.
The ineffectiveness of conservative treatment serves as an indication for heart transplantation or other surgical methods of treatment (endocardectomy, prosthetic heart valves).
Diuretics should be used with caution, as they can reduce preload. Non-expandable ventricles in their ability to maintain cardiac output are highly dependent on preload. Cardiac glycosides very little improve hemodynamics and can be dangerous in cardiomyopathy due to amyloidosis, which often indicates extreme sensitivity to digitalis preparations. Means that reduce afterload (for example, nitrates), can cause profound arterial hypotension and are usually ineffective.
If the diagnosis is made at an early stage, the specific treatment of hemochromatosis, sarcoidosis and Leffler's syndrome can be effective.
Prognosis of restrictive cardiomyopathy
The prognosis is pessimistic, similar to that of dilated cardiomyopathy, since the diagnosis is often established in the late stage of the disease. Most patients are not helped by any treatment. You can only offer symptomatic and substitution therapy.
Five-year survival is about 64%, 10-year survival of patients with idiopathic RCMP - 50%, the majority of survivors have severe heart failure.