Familial biventricular myocardial noncompaction associated with Ebstein's malformation

Šinkovec, Matjaž; Koželj, Mirta; Podnar, Tomaž

doi:10.1016/j.ijcard.2004.05.033

Cited by 45 publications

(47 citation statements)

References 21 publications

(39 reference statements)

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“…The genomic region responsible for Ebstein anomaly was assigned to the 2.9-3.8 Mb region [39,40]. In 2005, Sinkovec et al reported two patients with LVNC associated with Ebstein anomaly [41]. In this study, we identified a patient (Pt 24) who showed both LVNC and Ebstein anomalies.…”

Section: Cardiac Abnormalitymentioning

confidence: 74%

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shimada¹,

Shimojima²,

Okamoto³

et al. 2015

Brain and Development

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Section: Cardiac Abnormalitymentioning

confidence: 74%

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shimada¹,

Shimojima²,

Okamoto³

et al. 2015

Brain and Development

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“…In general, familial Ebstein anomaly is rare and only a few families with autosomal dominant inheritance have been described. 18,19 Several genetic loci for Ebstein anomaly have been reported in humans and in animal models. Chromosomal abnormalities as well as mutations in NKX2.…”

Section: Discussionmentioning

confidence: 99%

“…Also, in several other studies, Ebstein anomaly was associated with LVNC. 4,18,23 In 1 large family with autosomal dominant LVNC and Ebstein anomaly, an MYH7 mutation was found. 7 Ebstein anomaly in families with autosomal inheritance of LVNC 18,23 might represent a specific subtype with a mendelian inheritance pattern.…”

Section: Discussionmentioning

confidence: 99%

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Postma

Engelen

Meerakker

et al. 2011

Circ Cardiovasc Genet

164

105

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Background-Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding ␤-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with Ebstein anomaly in a large population-based study. Methods and Results-Mutational analysis in a cohort of 141 unrelated probands with Ebstein anomaly was performed by next-generation sequencing and direct DNA sequencing of MYH7. Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found; 5 were novel and 2 were known to cause hypertrophic cardiomyopathy. All mutations except for 1 3-bp deletion were missense mutations; 1 was a de novo change. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein anomaly (PϽ0.0001). LVNC segregated with the MYH7 mutation in the pedigrees of 3 of the probands, 1 of which also included another individual with Ebstein anomaly. Conclusions-Ebstein anomaly is a congenital heart malformation that is associated with mutations in MYH7. MYH7 mutations are predominantly found in Ebstein anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients. (Circ Cardiovasc Genet. 2011;4:43-50.)

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“…Autosomal dominant pedigrees segregating nonsyndromic Ebstein anomaly and/or left ventricular non-compaction in the same family have been described [Sinkovec et al, 2005;present series]. A common genetic etiology for Ebstein anomaly and left ventricular non-compaction can be suspected in some cases, considering that del 1p36 [Battaglia et al, 2008] and mutations in NKX2.5 gene [Woodrow Benson et al, 1999;Sarkozy et al, 2005; …”

mentioning

confidence: 99%

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

Digilio

Bernardini

Lepri

et al. 2011

American J of Med Genetics Pt A

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Ebstein anomaly is an uncommon congenital heart defect (CHD), characterized by downward displacement of the tricuspid valve into the right ventricle. To uncover the genetic associations with Ebstein anomaly, we have searched chromosomal imbalances using standard cytogenetic and array-CGH analysis, and single gene conditions associated with syndromic Ebstein anomaly (with extracardiac anomalies), and screened GATA4 and NKX2.5 mutations in nonsyndromic patients (without extracardiac anomalies). Between January 1997 and September 2009, 44 consecutive patients with Ebstein anomaly were evaluated in two centers of Pediatric Cardiology. Ebstein anomaly was syndromic in 12 (27%) patients, and nonsyndromic in 32 (73%). A recognizable syndrome or complex was diagnosed by clinical criteria in seven patients. In one syndromic patient an 18q deletion was diagnosed by standard cytogenetic analysis. Array-CGH analysis performed in 10 of the 12 syndromic patients detected an interstitial deletion of about 4 Mb at 8p23.1 in one patient, and a deletion 1pter > 1p36.32/dup Xpter- > Xp22.32 in another patient. In the 28 of 32 nonsyndromic patients who underwent molecular testing, no mutation in GATA4 and NKX2.5 genes were detected. We conclude that Ebstein anomaly is a genetically heterogeneous defect, and that deletion 1p36 and deletion 8p23.1 are the most frequent chromosomal imbalances associated with Ebstein anomaly. Candidate genes include the GATA4 gene (in patients with del 8p23.1), NKX2.5 (based on published patients with isolated Ebstein anomaly) and a hypothetical gene in patients with del 1p36).

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Familial biventricular myocardial noncompaction associated with Ebstein's malformation

Cited by 45 publications

References 21 publications

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

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