Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, α-dystrobrevin and FK Binding Protein-12

Kenton, Alexander B.; Sánchez, Ximena; Coveler, Karen J.; Makar, Kimberly A; Jimenez, Shinawe; Ichida, Fukiko; Murphy, Ross T.; Elliott, Perry; McKenna, William J.; Bowles, Neil E.; Towbin, Jeffrey A.; Bowles, Karla R.

doi:10.1016/j.ymgme.2004.02.009

Cited by 78 publications

(45 citation statements)

References 27 publications

(43 reference statements)

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“…There have been reports of mutations in several genes, including taffazin (TAZ/G4.5), LIM domain binding protein 3 (ZASP/LDB3), α-dystrobrevin (DTNA), and lamin A/C (LMNA) ( Table 2). [12][13][14][15][16][17] However, genetic studies have been limited, and specific gene defects are infrequently identified, suggesting genetic heterogeneity. 12,14,16 Therefore, the genetic basis of disease in a large proportion of patients with LVNC is still unresolved.…”

Section: Genetic Considerationsmentioning

confidence: 99%

“…8 It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), α-dystrobrevin (DTNA), tafazzin (TAZ/G4.5), lamin A/C (LMNA), and genes encoding the sarcomeric proteins, β-myosin heavy chain (MYH7), α-cardiac actin (ACTC), and cardiac troponin T (TNNT2). [12][13][14][15][16][17][18] In this review, key clinical features, including diagnostic criteria, and the emerging concepts of the etiology of LVNC are summarized.…”

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confidence: 99%

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Left Ventricular Noncompaction

Ichida

2009

Circ J

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114

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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)

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Section: Genetic Considerationsmentioning

confidence: 99%

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confidence: 99%

Left Ventricular Noncompaction

Ichida

2009

Circ J

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114

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“…Mutations in genes encoding G4.5 (taffazin) have been reported as causes of the disease in several reports (Chin et al, 1990;Ichida et al, 2001;Chen et al, 2002), but there are patients in whom no genetic basis of disease is found to be significant. Some studies reported that G4.5 mutations are rare in familial cases of NVM (Chen et al, 2002;Sasse-Klaassen et al, 2003;Kenton et al, 2004). Klaassen et al (2008) identified no mutations in 25 probands.…”

Section: Discussionmentioning

confidence: 99%

“…Some studies have showed that NVM is an autosomal dominant inherited disease (Sasse- Klaassen et al, 2003) and mutations in the G4.5 gene (taffazin) on the Xq28 chromosomal region may be responsible for some familial cases (Chin et al, 1990;Ichida et al, 2001;Chen et al, 2002;Kenton et al, 2004). However, there are no genetic research results on NVM in China.…”

Section: Introductionmentioning

confidence: 99%

Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium

Liu

Qi²,

Ye³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. To find the underlying cause of noncompaction of the ventricular myocardium (NVM), three Chinese families with probands who presented this problem were studied. After the family members were evaluated by echocardiography, the gene G4.5 (taffazin) was scanned by sequencing. Although X-linked inheritance could not be ruled out, NVM were thought to have a vague rule of inheritance in our data from 8 patients and 28 family members. We also did not identify any mutations in G4.5 in all samples. Our data suggest that other genes are responsible for the familial form of this disease.

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“…При НМЛЖ обнаружены мутации и других ге-нов -α-дистробревина, FK-связывающего протеи-на-12 [57], белков ядерной мембраны и митохонд-рий [58], цитоскелета [59] и белков NOTCH пути регуляции MIB1 [60].…”

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Noncompaction Cardiomyopathy

Iljinsky

Mozheyko

Шевченко

2017

RJTAO

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1 ФГБУ «Федеральный научный центр трансплантологии и искусственных органов имени академика В.И. Шумакова» Минздрава России, Москва, Российская Федерация 2 Кафедра трансплантологии и искусственных органов ГБОУ ВПО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Минздрава России, Москва, Российская Федерация В статье представлен обзор литературы по различным аспектам некомпактной кардиомиопатии. Не-компактная кардиомиопатия -относительно редкое врожденное заболевание сердца, характеризующе-еся чрезмерным развитием трабекулярной сети и глубокими межтрабекулярными впадинами миокарда желудочков. Наиболее часто встречается неуплотненный миокард левого желудочка (НМЛЖ). НМЛЖ может быть изолированным или сосуществовать с другими кардиальными и системными аномалиями. Неуплотнение диагностируют, используя эхокардиографию или магнитно-резонансную томографию. Клинические проявления варьируют в широких пределах -от бессимптомных пациентов до пациентов с желудочковыми аритмиями, застойной сердечной недостаточностью и тромбоэмболиями. Некомпакт-ный миокард является нерешенной клинической задачей в силу недостаточной точности неинвазивной диагностики и стратификации пациентов, определения прогноза и в ряде случаев -тактики их лечения. In this article, the review of the literature on various aspects of the noncompaction cardiomyopathy is presented. Non-compaction cardiomyopathy is a relatively rare congenital heart disease characterized by an excessive prominence of trabecular meshwork, and deep recesses of the ventricular myocardium. The most frequent is left ventricular noncompaction (LVNC). LVNC can occur in isolation or coexist with other cardiac and systemic anomalies. Noncompaction can be detected with an echocardiography or cardiac magnetic resonance imaging. The clinical presentation varies ranging from asymptomatic patients to patients who develop ventricular arrhythmias, heart failure, thromboembolism.

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Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, α-dystrobrevin and FK Binding Protein-12

Cited by 78 publications

References 27 publications

Left Ventricular Noncompaction

Left Ventricular Noncompaction

Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium

Noncompaction Cardiomyopathy

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