Left Ventricular Noncompaction

Abstract

Left ventricular noncompaction (LVNC) is a recently defined cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses, and is thought to be caused by arrest of normal endomyocardial morphogenesis. Although LVNC has been classified as a primary cardiomyopathy of genetic origin, its definition and diagnostic criteria are still being debated. Isolated LVNC was thought to be rare; however, heightened awareness has resulted in an increased detection of the morphological features of LVNC in routine clinical practice, especially in the adult population. Clinical manifestations are highly variable, ranging from no symptoms to disabling congestive heart failure, arrhythmias, and systemic thromboemboli. LVNC, like other forms of inherited cardiomyopathy, is genetically heterogeneous and can be inherited as an autosomaldominant or X-linked recessive disorder. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), α-dystrobrevin (DTNA), tafazzin (TAZ/G4.5) and those encoding sarcomeric proteins. However, the relatively small contribution of known mutations to the disease, compared with the higher proportion of familial cases suggests that other elusive genes remain to be identified. (Circ J 2009; 73: 19 -26)

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

“…Left ventricular noncompaction is a genetically heterogeneous condition that occurs because of failure of normal myocardial maturation during cardiac embryogenesis (Chin et al 1990;Ichida 2009) and results in prominent trabeculations, particularly in the left ventricle (Chin et al 1990;Ichida. 2009).…”

“…There are several genes associated with isolated LVNC including G4.5 (TAZ), dystrobrevin (DTNA), LIM domainbinding protein 3 (Cypher/ZASP: LDB3), Lamin A/C (LMNA), SCN5A, and sarcomere proteins (b-myosin heavy chain, a-cardiac actin (ACTC), cardiac troponin T [TNNT2], tropomyosin 1 [TPM1]) (Xing et al 2006;Ichida 2009;Chang et al 2011). These gene products have functions related to cytoskeletal and/or mitochondrial function (Tang et al 2010).…”

Miocárdio não compactado em paciente com infarto agudo do miocárdio

“…An increasing number of cases have been observed in asymptomatic individuals. Although described as rare until recently (with a prevalence in adults estimated at 0.014%) 3 , recent studies have suggested that it is underdiagnosed: in a recently published study, almost 25% of the patients referred to a Heart Disease Clinic who presented LV systolic dysfunction met the criteria for this diagnosis 4 .…”

Surgical Repair of Left Ventricular Noncompaction in a Patient with a Novel Mutation of the Myosin Heavy Chain 7 Gene

“…Left ventricular noncompaction (LVNC) represents arrest of the normal process of myocardial compaction process and results in the persistence of multiple prominent ventricular trabeculations and deep intertrabecular recesses (Ichida 2009). The clinical presentation and natural history of LVNC are highly variable, ranging from no symptoms to disabling congestive heart failure, arrhythmias, and systemic thromboemboli (Ichida 2009).…”

“…The clinical presentation and natural history of LVNC are highly variable, ranging from no symptoms to disabling congestive heart failure, arrhythmias, and systemic thromboemboli (Ichida 2009).…”