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'''Non-compaction cardiomyopathy''' (NCC), sometimes known as "spongiform cardiomyopathy" is a rare [[Congenital disorder|congenital]] [[cardiomyopathy]] that affects both children and adults. It refers to a type of cardiomyopathy where the [[myocardium|myocardial development]] is hindered during the early stages of fetal development (the [[embryogenesis]] stage). <ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | publisher = Medscape | volume = 4 | issue =1 | pages =| year =2006 | url= http://www.medscape.com/viewarticle/551882_1 | format = webpage | id =}}</ref> <ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal =  | publisher =  | volume =  | issue =| pages =  | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id =}}</ref>.  It results from the failure of [[myocardium|myocardial]] development during [[embryogenesis]].<ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | volume=4 | issue=1 | pages= 35| year=2006 | url=http://www.medscape.com/viewarticle/551882_1 | format= | pmid=17002802 | doi =10.1186/1476-7120-4-35 | pmc =1592122}}</ref><ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal =  | publisher =  | volume =  | issue =| pages =  | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id = | accessdate =2007-06-13 |archiveurl = http://web.archive.org/web/20070929131905/http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html <!-- Bot retrieved archive --> |archivedate = 2007-09-29}}</ref>
'''Non-compaction cardiomyopathy''' (NCC), sometimes known as "spongiform cardiomyopathy" is a rare [[Congenital disorder|congenital]] [[cardiomyopathy]] that affects both children and adults. It refers to a type of cardiomyopathy where the [[myocardium|myocardial development]] is hindered during the early stages of fetal development (the [[embryogenesis]] stage). <ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | publisher = Medscape | volume = 4 | issue =1 | pages =| year =2006 | url= http://www.medscape.com/viewarticle/551882_1 | format = webpage | id =}}</ref> <ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal =  | publisher =  | volume =  | issue =| pages =  | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id =}}</ref>.  It results from the failure of [[myocardium|myocardial]] development during [[embryogenesis]].<ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | volume=4 | issue=1 | pages= 35| year=2006 | url=http://www.medscape.com/viewarticle/551882_1 | format= | pmid=17002802 | doi =10.1186/1476-7120-4-35 | pmc =1592122}}</ref><ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal =  | publisher =  | volume =  | issue =| pages =  | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id = | accessdate =2007-06-13 |archiveurl = http://web.archive.org/web/20070929131905/http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html <!-- Bot retrieved archive --> |archivedate = 2007-09-29}}</ref>


==Pathophysiology==
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 of the heart|[[ventricle]]s]], 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.
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 of the heart|[[ventricle]]s]], 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.


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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 other organs.
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 other organs.


Noncompaction of ventricular myocardium is recently included in the 2006 classification of [[cardiomyopathy|cardiomyopathies]] as a genetic cardiomyopathy <ref name= AHA>{{Cite journal | last =Maron| first =Barry. | last2 =Towbin | first2 =Jeffrey. | last3 =Thiene| first3 =Gaetano | last4 =Antzelevitch| first4 =Charles  | last5 =Corrado| first5 =Domenico. | title = Contemporary Definitions and Classification of the Cardiomyopathies  | journal = American Heart Association Journals  | publisher = American Heart Association t  | volume = 113 | issue =14 | pages =| year =2006 | url= http://circ.ahajournals.org/cgi/content/full/113/14/1807| format = webpage | id = 113:1807-1816}}</ref>.
Noncompaction of ventricular myocardium was recently included in the 2006 classification of [[cardiomyopathy|cardiomyopathies]] as a genetic cardiomyopathy <ref name= AHA>{{Cite journal | last =Maron| first =Barry. | last2 =Towbin | first2 =Jeffrey. | last3 =Thiene| first3 =Gaetano | last4 =Antzelevitch| first4 =Charles  | last5 =Corrado| first5 =Domenico. | title = Contemporary Definitions and Classification of the Cardiomyopathies  | journal = American Heart Association Journals  | publisher = American Heart Association t  | volume = 113 | issue =14 | pages =| year =2006 | url= http://circ.ahajournals.org/cgi/content/full/113/14/1807| format = webpage | id = 113:1807-1816}}</ref>.


==Epidemiology==
==Epidemiology==
Due to its recent diagnosis  and it being an unclassified Cardiomyopathy according to the [[WHO]], 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 not thought to occur in one in every 500 people in the population.
Due to its recent discovery as a diagnostic entity and the fact that has been unclassified as a [[cardiomyopathy]] according to the [[WHO]], the incidence of the condition is not well characterized.  Some reports suggest an incidence of approximately 0.12 cases per 100,000. This number may be an underestimation of the true percentage, as it only represents those patients with severe symptoms that have come to medical attention.


Again due to the recent nature of the condition diagnosis is not definitive and there are on going discussions as to various points such as the ratio of compacted to non-compacted at various age stages. However it is universally understood that non-compaction Cardiomyopathy will by characterized anatomically be ''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.'' <ref>Weiford BC, Subbarao VD, Mulhern KM, Noncompaction of the ventricular myocardium. Circulation 109 (24): 2965-71 2004</ref>
==Diagnosis==
The ratio of compacted to non-compacted myoacardium may very at various developmental stages and ages. Non-compaction cardiomyopathy is 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. <ref>Weiford BC, Subbarao VD, Mulhern KM, Noncompaction of the ventricular myocardium. Circulation 109 (24): 2965-71 2004</ref>       Normal  0              false  false  false      EN-US  X-NONE  X-NONE                                                    MicrosoftInternetExplorer4                                                                                                                                                                                                                                                                                                                                                                                                                                                                                          Normal  0              false  false  false      EN-US  X-NONE  X-NONE                                                    MicrosoftInternetExplorer4                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    On echocardiography the left ventricular wall is thick with a two layered appearance.  The epicardial layer is compacted and thin and the endocardial layer is non-compacted and thick.  The ratio of the non-compacted endocardial layer to the epicardial layer is > 2.


==Symptoms==
==Symptoms==

Revision as of 19:03, 11 January 2011

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Overview

Non-compaction cardiomyopathy (NCC), sometimes known as "spongiform cardiomyopathy" is a rare congenital cardiomyopathy that affects both children and adults. It refers to a type of cardiomyopathy where the myocardial development is hindered during the early stages of fetal development (the embryogenesis stage). [1] [2]. It results from the failure of myocardial development during embryogenesis.[1][2]

Pathophysiology

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 of the heart|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.

This abnormality in development begins to occur around the 8 week mark during fetal development. The myocardium at this period of development is often referred to looking like a sponge as it is still a meshwork of interwoven myocardial fibers. This is beneficial at this stage as there is an increased surface area which allows perfusion of the myocardium from the left ventricular cavity. However as the embryo grows the myocardium should begin to be compact, in the case of NCC though the heart fails to fully compact leaving the myocardium to still have a spongy form. Non-compaction Cardiomyopathy can affect both ventricle walls of the heart separately or together however it generally only affects the left ventricle wall and therefore is sometimes known as left ventricular noncompaction.

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 other organs.

Noncompaction of ventricular myocardium was recently included in the 2006 classification of cardiomyopathies as a genetic cardiomyopathy [3].

Epidemiology

Due to its recent discovery as a diagnostic entity and the fact that has been unclassified as a cardiomyopathy according to the WHO, the incidence of the condition is not well characterized. Some reports suggest an incidence of approximately 0.12 cases per 100,000. This number may be an underestimation of the true percentage, as it only represents those patients with severe symptoms that have come to medical attention.

Diagnosis

The ratio of compacted to non-compacted myoacardium may very at various developmental stages and ages. Non-compaction cardiomyopathy is 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. [4] Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 On echocardiography the left ventricular wall is thick with a two layered appearance. The epicardial layer is compacted and thin and the endocardial layer is non-compacted and thick. The ratio of the non-compacted endocardial layer to the epicardial layer is > 2.

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 [1]. Likewise it possible to suffer from serve heart failure [2], which even though the condition is present from birth, may only manifest itself later in life.

Other Complications

The presence of NCC can also lead to other complications around the heart and in other organs. These are not necessarily common complications and no paper has yet to document the incidence of these complicationcs.

Misdiagnosis

In a recent study [1] of 53 patients with non-compaction cardiomyopathy, the first 42 were misdiagnosed with another form of heart disease. Improved awareness and improved imaging modalities allowed the correct diagnosis to be made in the last 11 cases. The most common misdiagnoses included:

The high number of misdiagnosis can be attributed due to non-compaction cardiomyopathy only being first reported in 1990, and so diagnosis is often overlooked or delayed. Advances in medical imaging equipment has made it easier to diagnosis the problem in particle the wider use of MRI's

Prognosis

Due to non-compaction cardiomyopathy being a relatively new disease in terms of understanding it's impact on the human life expectancy is not very well understood. In a 2005 study [2] 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 under go 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, as a precaution immediate family members are being tested which is turning up more supposedly healthy people with NCC who are not suffering from it. The long term prognosis for these people is currently unknown.

Management

One paper [5] 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 blockers 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 [Cardiac arrhythmia|arrhythmia] problems.

In severe cases, where NCC has led to heart failure, a heart transplant may be necessary.

Images

  • Two-dimensional apical four chamber and parasternal short axis images at the level of the ventricles show dilatation of both ventricles, multiple trabeculae and intertrabecular recesses in inferior, lateral, anterior walls, middle and apical portions of the septum and apex of the left ventricle. [1]

    Two-dimensional apical four chamber and parasternal short axis images at the level of the ventricles show dilatation of both ventricles, multiple trabeculae and intertrabecular recesses in inferior, lateral, anterior walls, middle and apical portions of the septum and apex of the left ventricle. [1]

  • Transthoracic two-dimensional study with color and continuous wave Doppler shows left ventricular noncompaction associated with patent ductus arteriosus (PDA). [2]

    Transthoracic two-dimensional study with color and continuous wave Doppler shows left ventricular noncompaction associated with patent ductus arteriosus (PDA). [2]


  • Transthoracic two-dimensional echocardiogram in apical four chamber and parasternal short axis at the level of both ventricles demonstrate dilatation, deep trabeculae and intertrabecular recesses in the inferior, lateral, anterior walls, middle and apical portions of the septum and apex of the left ventricle. [3]

    Transthoracic two-dimensional echocardiogram in apical four chamber and parasternal short axis at the level of both ventricles demonstrate dilatation, deep trabeculae and intertrabecular recesses in the inferior, lateral, anterior walls, middle and apical portions of the septum and apex of the left ventricle. [3]

  • Two-dimensional parasternal and color Doppler images at the level of both ventricles that show the noncompacted:compacted wall ratio and how the color enters the intertrabecular recesses [4]

    Two-dimensional parasternal and color Doppler images at the level of both ventricles that show the noncompacted:compacted wall ratio and how the color enters the intertrabecular recesses [4]


Source

  • "Left Ventriuclar noncompaction" (PDF). Orphanet.

See also

Barth syndrome, Emery-Dreifuss muscular dystrophy, myotubular myopathy, genes responsible for NCC are located also in the area that cause these conditions.

Links

References

  1. ↑ 1.0 1.1 1.2 1.3 Espinola-Zavaleta, Nilda.; Soto, Elena.; Castellanos, Luis Munoz; Játiva-Chávez, Silvio; Keirns, Candace. (2006). "Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study" (webpage). Cardiovasc Ultrasound. Medscape. 4 (1).
  2. ↑ 2.0 2.1 2.2 2.3 Oechslin, Erwin; Jenni, Rolf (2005). "Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease" (webpage).
  3. ↑ Maron, Barry.; Towbin, Jeffrey.; Thiene, Gaetano; Antzelevitch, Charles; Corrado, Domenico. (2006). "Contemporary Definitions and Classification of the Cardiomyopathies" (webpage). American Heart Association Journals. American Heart Association t. 113 (14). 113:1807-1816.
  4. ↑ Weiford BC, Subbarao VD, Mulhern KM, Noncompaction of the ventricular myocardium. Circulation 109 (24): 2965-71 2004
  5. ↑ Lorenzo Botto, MD (2004-Sept). "Left Ventricular Non-compacted" (PDF). Check date values in: |date= (help)

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