Noncompaction cardiomyopathy
Noncompaction cardiomyopathy | |
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Other names | Spongiform cardiomyopathy |
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Noncompaction cardiomyopathy is inherited in an autosomal dominant manner | |
Specialty | Cardiology ![]() |
Noncompaction cardiomyopathy (NCC) is a rare
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
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.
Signs and symptoms
Subjects' symptoms from non-compaction cardiomyopathy range widely. It is possible to be diagnosed with the condition, yet not to have any of the symptoms associated with heart disease.[2] Likewise it is possible to have severe congestive heart failure,[3] even though the condition is present from birth, which may only manifest itself later in life.[2] Differences in symptoms between adults and children are also prevalent with adults more likely to have heart failure and children from depression of systolic function.[2]
Common symptoms associated with a reduced pumping performance of the heart include:[4]
- 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
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 complications occur with NCC as well.[citation needed]
- 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
Genetics
The American Heart Association's 2006 classification of cardiomyopathies considers noncompaction cardiomyopathy a genetic cardiomyopathy.[5] Mutations in LDB3 (also known as "Cypher/ZASP") have been described in patients with the condition.[6] There is recent information in which NCC has been seen in combination with 1q21.1 deletion Syndrome.[7] Furthermore, mutations in DES (desmin), TTN (titin), RBM20 and LMNA could be detected in a large cohort of LVNC patients.[8][9][10] Loss-of-function variants in the NONO gene have been associated with an X-linked form of noncompaction cardiomyopathy in males who also often present with developmental delays.[11] TPM1 has also been implicated in development of the disease.[12]
Diagnosis
Trabeculation of the ventricles is normal, as are prominent, discrete muscular bundles greater than 2mm. In non-compaction there are excessively prominent trabeculations. Echocardiography is the reference standard for diagnosing NCC, although it can be well defined by computer tomography scan, positron emission tomography and magnetic resonance imaging.[13] Chin, et al., described echocardiographic method to distinguish non-compaction from normal trabeculation. They described a ratio of the distance from the trough and peak, of the trabeculations, to the epicardial surface.[14] Non-compaction is diagnosed when the trabeculations are more than twice the thickness of the underlying ventricular wall.
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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]
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Transthoracic two-dimensional study with color and continuous wave Doppler shows left ventricular noncompaction associated with patent ductus arteriosus (PDA). [2]
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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]
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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]
Differential diagnosis
Heart conditions that noncompaction cardiomyopathy needs to be distinguished from include other types of
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
Management
One paper[16] 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
In severe cases, where NCC has led to
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] that 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 experiencing more severe forms of NCC than might be found typically in the population. Sedaghat-Hamedani et al. also showed the clinical course of symptomatic LVNC can be severe.[9] In this study cardiovascular events were significantly more frequent in LVNC patients compared with an age-matched group of patients with non-ischemic dilated cardiomyopathy (DCM).[9] 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.[citation needed]
Epidemiology
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Due to its recent establishment as a diagnosis, and it being unclassified as a cardiomyopathy according to the
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.[18]
History
Non-compaction cardiomyopathy was first identified as an isolated condition in 1984 by Engberding and Benber.[19] 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.[citation needed]
See also
- Barth syndrome
- Emery–Dreifuss muscular dystrophy
- Myotubular myopathy
References
- PMID 14623814.
- ^ PMID 17002802.
- ^ S2CID 221234437.
- ^ The Cardiomyopathy Association (2007-07-23). "LV Non-compaction" (website). Retrieved 2007-07-23.
- S2CID 6660623.
- S2CID 25932261.
- ^ A publication is expected by Leiden University Medical Centre
- S2CID 85515283.
- ^ PMID 29029073.
- PMID 33478057.
- S2CID 206998226.
- PMID 20965760.
- PMID 20843341.
- PMID 2372897.
- PMID 19838476.
- ^ Lorenzo Botto, MD (September 2004). "Left Ventricular Non-compacted" (PDF). Archived from the original (PDF) on 2007-02-07. Retrieved 2007-06-13.
- PMID 25814232.
- PMID 15210614.
- PMID 6731322.
Further reading
- "Non-compaction of Myocardium Cardiomyopathy". Yale University. Archived from the original on September 7, 2006. 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. Archived from the original (PDF) on February 7, 2007. Retrieved June 14, 2007.
- "Left Ventricular Non-compaction". Baylor College of Medicine. Archived from the original on September 30, 2007. Retrieved June 15, 2007.
- Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB, American Heart Association, Council On Clinical Cardiology HF (2006). "Contemporary Definitions and Classification of the Cardiomyopathies". American Heart Association Scientific Statement. 113 (14): 1807–1816. S2CID 6660623. Retrieved June 15, 2007.
- Towbin JA, Bowles NE (2002). "The failing heart". Nature. 415 (6868): 227–33. S2CID 2895156.
- 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. 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.