Noncompaction cardiomyopathy
Encyclopedia
Non-compaction cardiomyopathy (NCC), also called spongiform cardiomyopathy, is a rare congenital
cardiomyopathy
that affects both children and adults. It results from the failure of myocardial development during embryogenesis
.
During development, the majority of the heart muscle is a sponge-like meshwork of interwoven myocardial fibers. As normal development progresses, these trabeculated structures undergo significant compaction that transforms them from spongy to solid. This process is particularly apparent in the ventricles, and particularly so in the left ventricle. Noncompaction cardiomyopathy results when there is failure of this process of compaction. Because the consequence of non-compaction is particularly evident in the left ventricle, the condition is also called left ventricular noncompaction. Other hypotheses and models have been proposed, none of which is as widely accepted as the noncompaction model.
Symptoms can range however are often a result of a poor pumping performance by the heart. The disease can be associated with other problems with the heart and the body.
's 2006 classification of cardiomyopathies
considers noncompaction cardiomyopathy a genetic cardiomyopathy. Mutations in LDB3
(also known as "Cypher/ZASP") have been described in patients with the condition.
There is recent information in which NCC has been seen in combination with 1q21.1 deletion syndrome
.
, it is not fully understood how common the condition is. Some reports suggest that it is in the order of 0.12 cases per 100,000. The low number of reported cases though is due to the lack of any large population studies into the disease and have been based primarily upon patients suffering from advanced heart failure. A similar situation occurred with Hypertrophic cardiomyopathy
which was initially considered very rare; however is now thought to occur in one in every 500 people in the population.
Again due to this condition being established as a diagnosis recently, there are ongoing discussions as to its nature, and to various points such as the ratio of compacted to non-compacted at different age stages. However it is universally understood that non-compaction cardiomyopathy will be characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. Major clinical correlates include systolic and diastolic dysfunction, associated at times with systemic embolic events.
Common symptoms associated with a reduced pumping performance of the heart include:
Two conditions though that are more prevalent in noncompaction cardiomyopathy are: tachyarrhythmia which can lead to Sudden Cardiac Death
and clotting of the blood in the heart.
The high number of misdiagnoses can be attributed to non-compaction cardiomyopathy being first reported in 1990; diagnosis is therefore often overlooked or delayed. Advances in medical imaging equipment have made it easier to diagnose the condition, particularly with the wider use of MRIs.
has listed the various types of management of care that have been used for various types of NCC. These are similar to management programs for other types of cardiomyopathies which include the use of ACE inhibitors
, beta blocker
s and aspirin
therapy to relieve the pressure on the heart, surgical options such as the installation of pacemaker is also an option for those thought to be at a high risk of arrhythmia problems.
In severe cases, where NCC has led to heart failure, with resulting surgical treatment including a heart valve operation, or a heart transplant.
, Emery-Dreifuss muscular dystrophy
, myotubular myopathy, genes responsible for NCC are located also in the area that cause these conditions.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
cardiomyopathy
Cardiomyopathy
Cardiomyopathy, which literally means "heart muscle disease," is the deterioration of the function of the myocardium for any reason. People with cardiomyopathy are often at risk of arrhythmia or sudden cardiac death or both. Cardiomyopathy can often go undetected, making it especially dangerous to...
that affects both children and adults. It results from the failure of myocardial development during embryogenesis
Embryogenesis
Embryogenesis is the process by which the embryo is formed and develops, until it develops into a fetus.Embryogenesis starts with the fertilization of the ovum by sperm. The fertilized ovum is referred to as a zygote...
.
During development, the majority of the heart muscle is a sponge-like meshwork of interwoven myocardial fibers. As normal development progresses, these trabeculated structures undergo significant compaction that transforms them from spongy to solid. This process is particularly apparent in the ventricles, and particularly so in the left ventricle. Noncompaction cardiomyopathy results when there is failure of this process of compaction. Because the consequence of non-compaction is particularly evident in the left ventricle, the condition is also called left ventricular noncompaction. Other hypotheses and models have been proposed, none of which is as widely accepted as the noncompaction model.
Symptoms can range however are often a result of a poor pumping performance by the heart. The disease can be associated with other problems with the heart and the body.
History
Non compaction cardiomyopathy was first identified as an isolated condition in 1984 by Engberding and Benber. They reported on a 33 year old female presenting with exertional dyspnea and palpitations. Investigations concluded persistence of myocardial sinusoids (now termed non compaction). Prior to this report, the condition was only reported in association with other cardiac anomalies, namely pulmonary or aortic atresia. Myocardial sinusoids is considered not an accurate term as endothelium lines the intertrabecular recesses.Diagnosis
Trabeculation of the ventricles is normal, as are prominent, discrete muscular bundles greater than 2mm. In non compaction there is excessively prominent trabeculations. Chin, et al. described echocardiographic method to distinguish non compaction for normal trabeculation. They described a ratio of the distance from the trough and peak, of the trabeculations, to the epicardial surface. Non compaction is diagnosed when the trabeculations are more than twice the thickness of the underlying ventricular wall.Genetics
The American Heart AssociationAmerican Heart Association
The American Heart Association is a non-profit organization in the United States that fosters appropriate cardiac care in an effort to reduce disability and deaths caused by cardiovascular disease and stroke. It is headquartered in Dallas, Texas...
's 2006 classification of cardiomyopathies
Cardiomyopathy
Cardiomyopathy, which literally means "heart muscle disease," is the deterioration of the function of the myocardium for any reason. People with cardiomyopathy are often at risk of arrhythmia or sudden cardiac death or both. Cardiomyopathy can often go undetected, making it especially dangerous to...
considers noncompaction cardiomyopathy a genetic cardiomyopathy. Mutations in LDB3
LDB3
LIM domain binding 3, also known as LDB3 or ZASP, is a protein which in humans is encoded by the LDB3 gene.-Function:This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues...
(also known as "Cypher/ZASP") have been described in patients with the condition.
There is recent information in which NCC has been seen in combination with 1q21.1 deletion syndrome
1q21.1 deletion syndrome
1q21.1 deletion syndrome or 1q21.1 microdeletion is a rare aberration of chromosome 1. , the international rare chromosome disorder group, has 48 genetically confirmed registered cases of this deletion worldwide ....
.
Epidemiology
Due to its recent establishment as a diagnosis, and it being unclassified as a cardiomyopathy according to the WHOWho
Who may refer to:* Who , an English-language pronoun* who , a Unix command* Who?, one of the Five Ws in journalism- Art and entertainment :* Who? , a 1958 novel by Algis Budrys...
, it is not fully understood how common the condition is. Some reports suggest that it is in the order of 0.12 cases per 100,000. The low number of reported cases though is due to the lack of any large population studies into the disease and have been based primarily upon patients suffering from advanced heart failure. A similar situation occurred with Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy is a disease of the myocardium in which a portion of the myocardium is hypertrophied without any obvious cause...
which was initially considered very rare; however is now thought to occur in one in every 500 people in the population.
Again due to this condition being established as a diagnosis recently, there are ongoing discussions as to its nature, and to various points such as the ratio of compacted to non-compacted at different age stages. However it is universally understood that non-compaction cardiomyopathy will be characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. Major clinical correlates include systolic and diastolic dysfunction, associated at times with systemic embolic events.
Symptoms
Subjects' symptoms from non-compaction cardiomyopathy range widely. It is possible to be diagnosed with the condition, yet not to suffer from any of the symptoms associated with heart disease. Likewise it possible to suffer from severe heart failure, which even though the condition is present from birth, may only manifest itself later in life. Differences in symptoms between adults and children are also prevalent with adults more likely to suffer from heart failure and children from depression of systolic function.Common symptoms associated with a reduced pumping performance of the heart include:
- Breathlessness
- Fatigue
- Swelling of the ankles
- Limited physical capacity and exercise intolerance
Two conditions though that are more prevalent in noncompaction cardiomyopathy are: tachyarrhythmia which can lead to Sudden Cardiac Death
Sudden Cardiac Death
Sudden cardiac death is natural death from cardiac causes, heralded by abrupt loss of consciousness within one hour of the onset of acute symptoms. Other forms of sudden death may be noncardiac in origin...
and clotting of the blood in the heart.
Other complications
The presence of NCC can also lead to other complications around the heart and elsewhere in the body. These are not necessarily common complications and no paper has yet commented on how frequently these complicationcs occur with NCC as well.- Cardiac
- Abnormalities of the origin of the left coronary arteryLeft coronary arteryThe left coronary artery, abbreviated LCA and also known as the left main coronary artery , arises from the aorta above the left cusp of the aortic valve.-Branching:...
- Pulmonary atresiaPulmonary atresiaPulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. The pulmonary valve is located on the right side of the heart between the right...
- StenosisStenosisA stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure.It is also sometimes called a stricture ....
- Right or Left ventricle obstruction
- Hypoplastic left ventricleHypoplastic left heart syndromeHypoplastic left heart syndrome , is a rare congenital heart defect in which the left ventricle of the heart is severely underdeveloped.-Causes:...
- Mitral regurgitationMitral regurgitationMitral regurgitation , mitral insufficiency or mitral incompetence is a disorder of the heart in which the mitral valve does not close properly when the heart pumps out blood. It is the abnormal leaking of blood from the left ventricle, through the mitral valve, and into the left atrium, when...
- Abnormalities of the origin of the left coronary artery
- Neuromuscular (Pertaining to both nerves and muscles)
- Becker's muscular dystrophyBecker's muscular dystrophyBecker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis....
- Mitochondrial myopathyMitochondrial myopathyMitochondrial myopathy is a type of myopathy associated with mitochondrial disease. On biopsy, the muscle tissue of patients with this disease usually demonstrate "ragged red" muscle fibers...
- Polyneuropathy and metabolic myopathyMyopathyIn medicine, a myopathy is a muscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness. "Myopathy" simply means muscle disease...
- Becker's muscular dystrophy
- Genetic related
- Emery-Dreifuss muscular dystrophyEmery-Dreifuss muscular dystrophyEmery–Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement and heart muscle.It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.-Presentation:...
- Myotubular cardiomyopathyMuscular dystrophyMuscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
- Barth syndromeBarth syndromeBarth syndrome , also known as 3-Methylglutaconic aciduria type II, is a X-linked genetic disorder.-Presentation:Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy , neutropenia Barth syndrome (BTHS), also known as 3-Methylglutaconic...
- Emery-Dreifuss muscular dystrophy
Misdiagnosis
In a study (2006) carried out on 53 patients with the condition in Mexico, 42 had been diagnosed with another form of heart disease and only in the most recent 11 cases that ventricular noncompation was diagnosed and this took several echocardiograms to confirm. The most common misdiagnoses were:- dilated cardiomyopathyDilated cardiomyopathyDilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, and other body systems....
: 30 Cases - congenital heart disease: 6 Cases
- ischemic heart disease: 2 Cases
- disease of the heart valves: 2 Cases
- dilated phase hypertensive cardiomyopathy: 1 Case
- restrictive cardiomyopathyRestrictive cardiomyopathyRestrictive cardiomyopathy is a form of cardiomyopathy in which the walls are rigid, and the heart is restricted from stretching and filling with blood properly....
: 1 Case
The high number of misdiagnoses can be attributed to non-compaction cardiomyopathy being first reported in 1990; diagnosis is therefore often overlooked or delayed. Advances in medical imaging equipment have made it easier to diagnose the condition, particularly with the wider use of MRIs.
Prognosis
Due to non-compaction cardiomyopathy being a relatively new disease, its impact on human life expectancy is not very well understood. In a 2005 study which documented the long term follow up of 34 patients with NCC, 35% had died at the age of 42 +/- 40 months with a further 12% having to undergo a heart transplant due to heart failure. However, this study was based upon symptomatic patients referred to a tertiary care center, and so were suffering from more severe forms of NCC than might be found typically in the population. As NCC is a genetic disease, immediate family members are being tested as a precaution which is turning up more supposedly healthy people with NCC who are asymptomatic. The long term prognosis for these people is currently unknown.Management
One paperhas listed the various types of management of care that have been used for various types of NCC. These are similar to management programs for other types of cardiomyopathies which include the use of ACE inhibitors
Angiotensin-converting enzyme
Angiotensin I-converting enzyme , an exopeptidase, is a circulating enzyme that participates in the body's renin-angiotensin system , which mediates extracellular volume , and arterial vasoconstriction...
, beta blocker
Beta blocker
Beta blockers or beta-adrenergic blocking agents, beta-adrenergic antagonists, beta-adrenoreceptor antagonists or beta antagonists, are a class of drugs used for various indications. They are particularly for the management of cardiac arrhythmias, cardioprotection after myocardial infarction ,...
s and aspirin
Aspirin
Aspirin , also known as acetylsalicylic acid , is a salicylate drug, often used as an analgesic to relieve minor aches and pains, as an antipyretic to reduce fever, and as an anti-inflammatory medication. It was discovered by Arthur Eichengrun, a chemist with the German company Bayer...
therapy to relieve the pressure on the heart, surgical options such as the installation of pacemaker is also an option for those thought to be at a high risk of arrhythmia problems.
In severe cases, where NCC has led to heart failure, with resulting surgical treatment including a heart valve operation, or a heart transplant.
See also
Barth syndromeBarth syndrome
Barth syndrome , also known as 3-Methylglutaconic aciduria type II, is a X-linked genetic disorder.-Presentation:Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy , neutropenia Barth syndrome (BTHS), also known as 3-Methylglutaconic...
, Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Emery–Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement and heart muscle.It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.-Presentation:...
, myotubular myopathy, genes responsible for NCC are located also in the area that cause these conditions.
External links
- Autoantibody causing cardiac damage
- Myocardial antibody
- Cardiac MRI and transthoracic ultrasound videos of noncompaction cardiomyopathy