Cardiomyopathies (syn. Myocardiopathies , gr. Cardia (καρδία) heart , gr. Mys (μυς) muscle , gr. Páthos (πάθος) Leiden ) are a heterogeneous group of diseases of the heart muscle associated with mechanical and / or electrical malfunctions and usually cause , but not necessarily, inappropriate hypertrophy (thickening) or dilation (enlargement) of one or both chambers of the heart . Their causes are varied and often genetic . Cardiomyopathies are either limited to the heart or are part of a general systemic disease , often leading to cardiovascular- related death or progressive disability from heart failure .
"Cardiomyopathies are 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 "
Diseases that are a direct result of other cardiovascular anomalies, such as heart valve disease , high blood pressure , congenital heart defects or the consequences of atherosclerotic coronary artery disease, must be distinguished .
"It is also important to specify those disease entities that have not been included as cardiomyopathies in the present contemporary classification. These include pathological myocardial processes and dysfunction that are a direct consequence of other cardiovascular abnormalities such as that which occurs with valvular heart disease, systemic hypertension, congenital heart disease, and atherosclerotic coronary artery disease producing ischemic myocardial damage secondary to impairment in coronary flow. "
Because of a lot of new knowledge, this updated definition was proposed by the American Heart Society ( AHA ) in March 2006 and is now widely accepted. In addition to the above, a new classification differentiates between primary and secondary cardiomyopathies. The primary cardiomyopathies in turn are divided into congenital, acquired and mixed forms.
In the middle of the 18th century, chronic myocarditis was the only known heart muscle disease . The term primary myocardial disease was coined around 1900, and it wasn't until 1957 that the term cardiomyopathy emerged. There were several definitions until 1980 when the WHO called cardiomyopathy a "heart muscle disease of unknown cause". The 1995 WHO classification expanded the term to include "cardiac muscle diseases that lead to malfunction of the heart". New diseases such as arrhythmogenic right ventricular and restrictive cardiomyopathy were included.
The Institute for Cardiomyopathies Heidelberg has existed since 2015 .
Congenital primary cardiomyopathies
- → Main article hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is characterized by a mostly asymmetrical thickening of the muscles of the left ventricle.
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVCM), formerly also called arrhythmogenic right ventricular dysplasia (ARVD), is a predominantly congenital disease. In Veneto the prevalence is particularly high at 1: 2000 to 1: 5000. However, there are also cases of ARVCM in Germany. As the disease progresses, more and more muscles in the right ventricle are replaced by fatty tissue, causing the right ventricle to enlarge. Limitations in the pumping function of the heart are seldom found. Sudden cardiac death (PHT) or "near" PHT triggered by physical exertion, such as competitive sports, is more common, especially in young people. The diagnosis can be made using echocardiography, MRI, EKG and McKenna score . A cardioverter defibrillator can be implanted for treatment . Exercise should be avoided. A heart transplant is the last resort in many advanced cases . Since ARVCM was inherited in many cases, it is recommended that the family members of those affected be examined. In some countries, such as Italy and the United States, all members of sports clubs are given prophylactic screening.
One cause for the development of arrhythmogenic right ventricular cardiomyopathy can be mutations in proteins of the desmosomes . Desmosomes are important for cell contact between cells. In the case of ARVCM specifically for the myocardium. In Naxos disease , for example, the DSP gene is affected by a mutation that codes for the cell adhesion protein desmoplakin . The genetic defect leads to arrhythmogenic right ventricular cardiomyopathy in the affected patient. Mutations in the DES gene, which codes for the intermediate filament desmin , can also lead to ARVCM.
Left ventricular hypertrabeculation
Congenital, rare heart muscle disease with spongy expanded muscles, especially in the tip of the left ventricle, which has deep cavities (sinusoids) between muscle fibers (trabeculae) that are connected to the heart cavity. During the isolated noncompaction of the heart muscle (Syn: non-compaction cardiomyopathy, left ventricular hypertrabeculation, spongy myocardium), the heart muscle did not condense from its loose mesh network during the early embryonic phase (spongy myocardium). Increased in skeletal muscle diseases, also in combination with complex cyanotic heart defects.
The diagnosis is made by echocardiography, MRI, or angiography of the left ventricle during a cardiac catheterization exam. The clinical course is unclear. Cases of severe heart failure, thromboembolism , arrhythmias and sudden cardiac death are known. Cases that accumulate in families have been described, whereby mutations of the Z disk , the mitochondria and the G4.5 gene for tafazzin could be isolated.
Glycogen storage disorders
A distinction is made between PRKAG2 and Danon, a type II glycogenosis .
The syndrome of the sick sinus node (sick sinus syndrome ) is phenotypically similar to a conduction defect and can occur in an autosomal dominant manner.
Also the Wolff-Parkinson-White syndrome (WPW) is rare family before heaped.
- Kearns-Sayre syndrome with pigment degeneration of the retina of the eye, eye muscle paralysis and cardiomyopathy, and that
- MELAS syndrome with myopathy , encephalopathy , lactic acidosis and stroke-like episodes. In addition to the four characteristics defined by the acronym, hypertrophic cardiomyopathy and diffuse coronary artery disease are typical. Treatment is difficult. Some patients have been treated with coenzyme Q with modest short-term success. Heart transplantation is an alternative.
Ion channel defects
There is a growing list of rare hereditary and congenital cardiac arrhythmias that are encoded by genes for defective ion channel proteins. Even a small proportion of 5-10% of children with sudden infant death syndrome could be caused by ion channel defects. The clinical diagnosis of an ion channel defect is often already phenotypically possible using a standard 12-channel ECG . Some of these cases were previously classified as idiopathic ventricular fibrillation.
Long QT Syndrome (LQTS)
Long QT syndrome is probably the most common of the ion channel diseases. Lengthening of the ventricular depolarization and the QT interval in the 12-lead ECG are characteristic. There is a special form of ventricular tachycardia ( torsade de pointes ) and thus a risk of syncope and sudden cardiac death.
Jervell and Lange-Nielsen syndrome : rare, autosomal recessive, associated with deafness. Two genes that encode a slowly activating delayed potassium channel.
Romano-Ward syndrome : much more common, autosomal dominant, thirteen different genes, five of which ( KCNQ1 , KCNH2 , KCNE1 , KCNE2 , KCNJ2 ) code for different potassium channels (I (K)), two ( SCN5A , SCN3B ) for cardiac sodium channels (I (Na)) and one ( ANK2 ) for the protein ankyrin B, which is responsible for anchoring ion channels in the cell membrane.
The Brugada syndrome has been known as a clinical entity since 1992; it is sometimes also called Brugada-Brugada syndrome after the two brothers who first described it, Pedro and Josep Brugada . Sometimes it is responsible for sudden cardiac death , especially in young people. Characteristic are changes in the EKG similar to right bundle branch block, which can be provoked by an ajmaline test if necessary . Various genetic defects are known, they were described by Ramon Brugada , the youngest of the three Brugada brothers.
SUNDS = "sudden unexplained nocturnal death syndrome". Mainly among young Asian men, especially from Thailand, Japan, the Philippines and Cambodia. Sudden death in sleep from ventricular tachycardia or ventricular fibrillation . Some cases are indistinguishable from Brugada syndrome in appearance. SUNDS has found its way into the series " 1000 Ways to Bite the Grass " as kind of death # 818 with the title Tödlicher Traum .
Short QT Syndrome (SQTS)
First described in 2000. The QT interval in the ECG is shortened to less than 330 ms. There is a great risk of sudden cardiac death.
CPVT = "Catecholaminergic Polymorphic Ventricular Tachycardia", first description by Coumel 1978. Characterized by a noticeable widening of the QRS complex in the ECG as well as by syncope , by physical exertion or by violent emotional movements caused polymorphic ventricular tachycardias in children and adolescents suddenly and by an increased risk Cardiac death . CPVT is caused by mutations in the RYR2 gene, which codes for the cardiac (= subtype 2) ryanodine receptor , which is predominantly expressed in the heart muscles. The inheritance of the mutation in the RYR2 gene within the affected families follows an autosomal dominant inheritance pattern. That is, the risk for a first-degree relative is 50% of also having inherited the mutation that caused the disease. Previous sudden cardiac death in family members is observed in 30% of diagnosed cases of CPVT.
Mixed (congenital and acquired) primary cardiomyopathies
Dilated cardiomyopathy ( DCM ), in which the left ventricle (heart chamber) (in the end stage also all heart cavities) is considerably dilated (the heart can be compared to a large, flaccid sac). The wall thicknesses are usually not or only slightly thickened (hypertrophied). The heart contracts only to a limited extent (= systolic function restriction), often combined with an asynchronous contraction of the ventricles, caused by a disturbance of the conduction due to left bundle branch block. In terms of numbers, past myocarditis and chronic alcohol abuse are the most common causes. There are also innate forms. Secondary forms are " ischemic DCM" as a result of coronary heart disease and the final state of a hypertensive heart . DCM is a common reason for a heart transplant when the patient's condition cannot be adequately improved with medication, coronary intervention, or cardiac resynchronization therapy (CRT). The diagnosis is confirmed after clinical suspicion with the typical symptoms by imaging procedures (echocardiography, MRT, MSCT) and fine tissue (myocardial biopsy). Coronary artery disease must be ruled out by a cardiac catheter examination, as this could result in a curative treatment option for the cause.
The restrictive cardiomyopathy (RCM) presents itself with normal sized heart chambers and a mostly normal systolic pump function. The increased incorporation of connective tissue into the heart muscles hardens the heart muscles. The heart chambers stiffened as a result are difficult to fill in the relaxation phase (diastole) of the heart, the blood accumulates in the atria, which are thereby greatly enlarged. The wall thickness of the left ventricle is normal and the heart valves are normal.
The patients become noticeable by symptoms of heart failure such as exercise-dependent dyspnoea and leg edema . The disease is extremely rare in industrialized countries and can be overlooked if you don't specifically look for it. The main cause here is amyloidosis ; sporadic and familial forms are known. There were z. B. Mutations in the DES gene, which encodes the intermediate filament protein desmin, identified. In contrast, restrictive cardiomyopathy is far more common in tropical countries and causes up to 20% of all cardiovascular deaths. Diagnostic methods are echocardiography , possibly with tissue Doppler , a cardiac catheter examination with hemodynamics measurement , possibly a myocardial biopsy and an MRI .
Acquired primary cardiomyopathies
Myocarditis: inflammatory cardiomyopathy
The heart muscle inflammation is an acute or chronic process, which can be caused by a wide range of
- Toxins , e.g. B. cocaine ,
- endogenous substances, e.g. B. Interleukin-2 ,
- infectious agents like
- Viruses, e.g. B. Coxsackie virus , adenovirus , parvovirus B19 , human herpesvirus 6 (HHV6), HIV , (the involvement of the hepatitis C virus is controversial)
- Bacteria, e.g. B. diphtheria , meningococci , psittacosis , streptococci , borrelia
- Rickettsiae , e.g. B. Typhus , Rocky-Mountain Spotted Fever
- Mushrooms, e.g. B. Aspergillus , Candida
- Parasites , e.g. B. Trypanosoma cruzi ( Chagas disease ), toxoplasmosis
- of Whipple's disease (intestinal lipodystrophy)
- autoimmune ( giant cell myocarditis ) or as part of a
- Hypersensitivity reactions e.g. B. on drugs such as antibiotics, sulfonamides, anticonvulsants and anti-inflammatory drugs.
Stress provoked (Tako-Tsubo)
As Tako-Tsubo cardiomyopathy (syn: stress cardiomyopathy, broken-heart syndrome, apical ballooning) is called a heart muscle disease that mostly in postmenopausal occurs women and often by emotional stress situations and both in terms of clinical picture, ECG changes and laboratory values such as an acute heart attack is impressive. There is a balloon-like swelling of the heart chamber tip as in a severe anterior wall infarction, but there are no constrictions or occlusions of the coronary vessels. The cause is assumed to be a temporary occlusion of the fine hair vessels of the coronary arteries caused by stress hormones. This leads to a temporary "shock rigidity" ( stunning ) of the heart muscle, which, unlike a real heart attack, does not die (necrosis), but can completely recover. The prognosis is usually good, and in a few months the heart muscle disorder subsides. The mortality rate is around 3%. The diagnosis is made through echocardiography, cardiac catheterization and magnetic resonance imaging (MRI).
Pregnancy or peripartum cardiomyopathy is a rare cause of acquired dilated cardiomyopathy with systolic heart failure in pregnant women in the last trimester or up to 5 months after delivery (peripartum cardiomyopathy). The cause is unclear, an inflammatory component ( myocarditis ), immune-activating processes and gestational hypertension are discussed as triggers. Mostly overweight pregnant women over 30 years of age who have already given birth several times and who have preeclampsia are affected . Around half of the patients almost recover after six months, but in individual cases progressive heart failure with death or a heart transplant can occur.
A tachycardia-induced cardiomyopathy (synonym: tachymyopathy ) is a potentially reversible limitation primarily of the left ventricular pump function, which occurs in the context of a long-lasting tachycardiac arrhythmia , usually rapid atrial fibrillation . The diagnosis is made by echocardiography together with the ECG . Therapeutically, the heart rate is first lowered with cardiac glycosides and beta blockers . Calcium antagonists of the verapamil or diltiazem type can also be used in the case of beta-blocker intolerance . If the frequency is not lowered enough, dronedarone or amiodarone can be used. In addition, one is heart failure therapy started. If after a short time there is no improvement and after a few weeks with optimal therapy there is no extensive normalization of the heart's pumping capacity, other causes must be looked for.
Newborns from diabetic mothers with poor metabolism
This temporary and rare form of non-familial cardiomyopathy is observed in children whose diabetic mothers had poor metabolism (high blood sugar levels ) during pregnancy . It often occurs with fetal macrosomia .
The most important and most common of the numerous secondary cardiomyopathies are listed here, some of which are congenital and some are acquired diseases.
The cardiotoxicity describes the damaging effects of a substance (medicines, drugs, heavy metals, and chemicals) or a pathogen on the heart muscle. Cardiomyopathy can result from this.
Here endomyocardial fibrosis should be mentioned, in which the endocardium (inner lining of the heart) has thickened like a porcelain cast and leads to a diastolic heart dysfunction, as well as the hyper eosinophilic syndrome ( Löffler syndrome ).
Inflammatory - granulomatous
In diabetes mellitus , in functional disorders of the thyroid gland ( hyperthyroidism , hypothyroidism ) and the parathyroid gland ( hyperparathyroidism ), in pheochromocytoma and in acromegaly , involvement of the heart muscles in the sense of cardiomyopathy has been described.
Neuromuscular / neurological
The Friedreich's ataxia , muscular dystrophies by Duchenne Becker and after Emery-Dreifuss , the myotonic dystrophy type 1 , a neurofibromatosis and tuberous sclerosis may be associated with cardiomyopathy.
Autoimmune / connective tissue
The involvement of the heart is often overlooked in rheumatic diseases: systemic lupus erythematosus , dermatomyositis , rheumatoid arthritis , scleroderma , polyarteritis nodosa and amyloidosis as a result of ankylosing spondylitis .
Consequences of cancer therapy
In small animals include cardiomyopathies to the most commonly observed heart disease. The characteristics differ considerably depending on the species and breed.
In dogs , dilated cardiomyopathy (DKMP or DCM for short) is the dominant form of this heart disease. The representatives of larger breeds in particular tend to suffer from this condition, while members of smaller breeds of dogs are more often affected by degeneration of the endocardium in the valve area. The so-called “one-hand rule” provides a simple clue here. If the dog can be lifted with one hand, the dog is unlikely to have cardiomyopathy.
The disease takes different forms. If a Doberman Pinscher is diagnosed with the disease, its likely remaining life is less than half a year. Other breeds such as Newfoundland dogs or Deerhounds show a much milder course. A special form is the boxer's dilated cardiomyopathy, which is more reminiscent of the arrhythmogenic right ventricular cardiomyopathy in humans.
Treatment: As a basic therapy, like in humans with heart transplants, is rarely carried out for ethical and financial reasons, the treatment is limited to the administration of contraction-promoting drugs ( pimobendan , digoxin ) as well as to the drug-related alleviation of the sequelae (cardiac arrhythmia, pulmonary edema, etc.). Since the hereditary nature of the disease has been proven for some breeds, some breed clubs have initiated breeding studies.
In cats , hypertrophic cardiomyopathy is the most commonly observed form of the disease. It is also seen as a consequence of an overactive thyroid gland (thyrotoxic cardiomyopathy). A special form is similar to hypertrophic obstructive cardiomyopathy in humans. Restrictive and dilated cardiomyopathy in cats are also described. The latter is classified as secondary cardiomyopathy because it is the result of a lack of taurine, which is very important for cats . As industrial ready-made feeds are enriched with this ingredient, this form of the disease is observed less and less in cats. There are also transitional forms that show both signs of enlargement and signs of hypertrophy. They are known as intermediate cardiomyopathy .
The endocardial fibroelastosis is a rare disease of cats , caused by a thickening of the innermost layer of the heart is marked. It is triggered by the formation of elastic fibers in the endocardium. The disease is counted among the unclassified cardiomyopathies in cats and occurs in families between 3 weeks and 4 months in Siamese and Burmese cats .
Similar to dogs, the therapy of cardiomyopathies in cats is limited to the administration of medication to improve the symptoms (improvement of the systolic or diastolic function, treatment of arrhythmias) or to the therapy of the underlying disease (mainly thyroid diseases and taurine deficiency).
Dehydration drugs ( diuretics ), beta blockers, and ACE inhibitors are used to treat cardiomyopathy in cats . They can have a positive influence on the course of the disease and, depending on the stage of the disease, allow the animal many months to years of life.
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