Noncompaction cardiomyopathy

Non-compaction cardiomyopathy (NCC), also called spongiform cardiomyopathy, is a rare congenital cardiomyopathy that affects both children and adults.^[1] It results from the failure of myocardial development during embryogenesis.^[2][3]

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 range greatly in severity. Most are 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.^[4] 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.^[5] Non compaction is diagnosed when the trabeculations are more than twice the thickness of the underlying ventricular wall.

Genetics

The American Heart Association's 2006 classification of cardiomyopathies considers noncompaction cardiomyopathy a genetic cardiomyopathy.^[6] Mutations in LDB3 (also known as "Cypher/ZASP") have been described in patients with the condition.^[7]

There is recent information in which NCC has been seen in combination with 1q21.1 deletion syndrome.^[8]

Epidemiology

Due to its recent establishment as a diagnosis, and it being unclassified as a 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 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.^[9]

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.^[2] Likewise it possible to suffer from severe heart failure,^[3] which even though the condition is present from birth, may only manifest itself later in life.^[2] 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.^[2]

Common symptoms associated with a reduced pumping performance of the heart include:^[10]

• 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 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 artery
  • Pulmonary atresia
  • Stenosis
  • Right or Left ventricle obstruction
  • Hypoplastic left ventricle
  • Mitral regurgitation
• Neuromuscular (Pertaining to both nerves and muscles)
  • Becker's muscular dystrophy
  • Mitochondrial myopathy
  • Polyneuropathy and metabolic myopathy
• Genetic related
  • Emery-Dreifuss muscular dystrophy
  • Myotubular cardiomyopathy
  • Barth syndrome

Misdiagnosis

In a study (2006)^{[citation needed]} 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 cardiomyopathy: 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 cardiomyopathy: 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 ^[3] 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 paper ^[11] 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 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.

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]

• 

  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]

• 

  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]

See also

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

References

External links

• Autoantibody causing cardiac damage
• Myocardial antibody
• Cardiac MRI and transthoracic ultrasound videos of noncompaction cardiomyopathy

Further reading

• "Non-compaction of Myocardium Cardiomyopathy". Yale University. Retrieved June 13, 2007. 
• "Cardiomyopathy Caused by Isolated Noncompaction of the Left Ventricle in Adults". Medscape Cardiology. Retrieved June 13, 2007. 
• "Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study". Medscape Cardiology. Retrieved June 13, 2007. 
• "Left Ventriuclar noncompaction" (PDF). Orphanet. Retrieved June 14, 2007. 
• "Left Ventricular Non-compaction". Baylor College of Medicine. Retrieved June 15, 2007. 
• "Contemporary Definitions and Classification of the Cardiomyopathies". American Heart Association Scientific Statement. Retrieved June 15, 2007. 
• Towbin JA, Bowles NE (2002). "The failing heart". Nature 415 (6868): 227–33. doi:10.1038/415227a. PMID 11805847. 
• Moreira FC, Miglioransa MH, Mautone MP, Müller KR, Lucchese F (2006). "Noncompaction of the left ventricle: a new cardiomyopathy is presented to the clinician". Sao Paulo Med J 124 (1): 31–5. doi:10.1590/S1516-31802006000100007. PMID 16612460. 
• "Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease". Touch Cardiology. Archived from the original on September 29, 2007. Retrieved June 26, 2007.