Isolated Non-Compaction Cardiomyopathy

Engberding, Rolf; Stöllberger, Claudia; Ong, Peter; Yelbuz, T. Mesud; Gerecke, Birgit; Breithardt, Günter

doi:10.3238/arztebl.2010.0206

Cited by 40 publications

(62 citation statements)

References 77 publications

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“…It is not known whether the cardiac morphology observed in African/AfroCaribbean origin is representative of LVNC or just secondary to increased cardiac preload [Gati et al 2013a,b]. The incidence of this illness in a general population is between 0.05% and 0.25% per year [Engberding et al 2010;EspinolaZavaleta et al 2006;Stöllberger et al 2007]. The true prevalence is actually unknown [Weiford et al 2004].…”

Section: Epidemiologymentioning

confidence: 99%

“…The noncompaction/compaction cut-off ratio of 2.2 at the end of diastole can distinguish pathologic noncompaction, with a sensitivity of 100% and specificity of 95%. Involving two or more segments differentiates all patients with LVNC from those with other forms of cardiomyopathies as well as from healthy subjects [Melendez-Ramirez et al 2012] but there are no generally accepted criteria for the use of CT [Mohrs et al 2007;Engberding et al 2010].…”

Section: Ct Scanmentioning

confidence: 99%

“…Real-time 3D echocardiogram is a newer technique which facilitates identifications of noncompacted/ trabeculated myocardium [Engberding et al 2010;Rajdev et al 2007;Baker et al 2006].…”

Section: Diagnosismentioning

confidence: 99%

See 2 more Smart Citations

Left ventricular noncompaction cardiomyopathy: updated review

Udeoji

Philip

Morrissey

et al. 2013

Therapeutic Advances in Cardiovascular Disease

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Abstract:The first case of noncompaction was described in 1932 after an autopsy performed on a newborn infant with aortic atresia/coronary-ventricular fistula. Isolated noncompaction cardiomyopathy was first described in 1984. A review on selected/relevant medical literature was conducted using Pubmed from 1984 to 2013 and the pathogenesis, clinical features, and management are discussed. Left ventricular noncompaction (LVNC) is a relatively rare congenital condition that results from arrest of the normal compaction process of the myocardium during fetal development. LVNC shows variability in its genetic pattern, pathophysiologic findings, and clinical presentations. The genetic heterogeneity, phenotypical overlap, and variety in clinical presentation raised the suspicion that LVNC might just be a morphological variant of other cardiomyopathies, but the American Heart Association classifies LVNC as a primary genetic cardiomyopathy. The familiar type is common and follows a X-linked, autosomal-dominant, or mitochondrial-inheritance pattern (in children). LVNC can occur in isolation or coexist with other cardiac and/or systemic anomalies. The clinical presentations are variable ranging from asymptomatic patients to patients who develop ventricular arrhythmias, thromboembolism, heart failure, and sudden cardiac death. Increased awareness over the last 25 years and improvements in technology have increased the identification of this illness and improved the clinical outcome and prognosis. LVNC is commonly diagnosed by echocardiography. Other useful diagnostic techniques for LVNC include cardiac magnetic resonance imaging, computerized tomography, and left ventriculography. Management is symptom based and patients with symptoms have a poorer prognosis. LVNC is a genetically heterogeneous disorder which can be associated with other anomalies. Making the correct diagnosis is important because of the possible associations and the need for long-term management and screening of living relatives.

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Section: Epidemiologymentioning

confidence: 99%

Section: Ct Scanmentioning

confidence: 99%

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Left ventricular noncompaction cardiomyopathy: updated review

Udeoji

Philip

Morrissey

et al. 2013

Therapeutic Advances in Cardiovascular Disease

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“…In particular, it is not known whether the condition is a distinct cardiomyopathy or a phenotypic manifestation of other cardiomyopathies [3,18,[32][33][34][35][36][37][38]. In normal development, the early heart tube forms at week four of gestation and trabeculations subsequently emerge.…”

Section: Pathologymentioning

confidence: 99%

“…At week eight, trabecular remodeling and compaction of the LV myocardium occur simultaneously with invasion of the developing coronary circulation [39]. Failure of the compaction process in utero is a longstanding proposed mechanism for development of LVNC and was initially thought to account for the phenotype of these patients [4,[35][36][37][38]40]. This hypothesis is supported by new evidence of an autosomal dominant form of LVNC in humans caused by a mutation in the mindbomb homolog1 (MIB1) gene encoding a protein which regulates cell proliferation and compaction of fetal myocardium [41].…”

Section: Pathologymentioning

confidence: 99%

Left Ventricular Non-Compaction: Current Controversy and New Insights

E¹

2015

J Genet Syndr Gene Ther

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Left ventricular non-compaction is an increasingly recognized familial cardiomyopathy characterized morphologically by deep myocardial trabeculations and a highly variable, but potentially aggressive clinical course leading to cardiac death or cardiac transplantation. Great controversy exists regarding the pathophysiology, diagnostic approach, clinical characteristics, and management of the condition. To date, there are no universally accepted precise diagnostic criteria or management guidelines. Recent clinical studies and basic science research have significantly added to our understanding of LVNC in all of these aspects. This article reviews the literature to date on LVNC and addresses current controversies surrounding the pathophysiology, diagnosis, clinical features, and management.

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Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7

Vermeer¹,

Engelen²,

Postma³

et al. 2013

American J of Med Genetics Pt C

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Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β-myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance.

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Isolated Non-Compaction Cardiomyopathy

Abstract: NCCM is a type of cardiomyopathy that was first described 25 years ago. Its molecular genetic basis is not yet fully clear, and the same is true of its diagnosis, treatment, and prognosis. Further study of these matters is needed.

Cited by 40 publications

References 77 publications

Left ventricular noncompaction cardiomyopathy: updated review

Left ventricular noncompaction cardiomyopathy: updated review

Left Ventricular Non-Compaction: Current Controversy and New Insights

Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7

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