Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7

Engelen, Klaartje van; Postma, Alex V.; Meerakker, Judith B.A. van de; Roos-Hesselink, J.W.; Enden, Appolonia T J M Helderman-van den; Vliegen, H.W.; Rahman, Thahira; Baars, Marieke J.H.; Sels, Jan-Willem; Bauer, Ulrike; Pickardt, Thomas; Sperling, Silke; Moorman, Antoon F.M.; Keavney, Bernard; Goodship, Judith A.; Klaassen, Sabine; Mulder, Barbara J.M.

doi:10.1007/s12471-011-0141-1

Cited by 29 publications

(21 citation statements)

References 32 publications

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“…Patients with Ebstein anomaly also suffer from a myocardial disease known as left ventricular noncompaction (LVNC). 15 This condition is brought about by abnormalities in structural proteins which are important for heart contraction. This malformation has been linked to the gene MYH7, where mutations result in spongelike muscle tissue protruding into the left ventricle, impairing contraction.…”

Section: Geneticsmentioning

confidence: 99%

Ebstein Anomaly: A Review

Galea¹,

Ellul²,

Schembri³

et al. 2014

Neonatal Network

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Cardiac congenital abnormalities are a leading cause in neonatal mortality occurring in up to 1 in 200 of live births. Ebstein anomaly, also known as Kassamali anomaly, accounts for 1 percent of all congenital cardiac anomalies. This congenital abnormality involves malformation of the tricuspid valve and of the right ventricle. In this review, the causes of the anomaly are outlined and the pathophysiology is discussed, with a focus on the symptoms, management, and treatments available to date.

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Section: Geneticsmentioning

confidence: 99%

Ebstein Anomaly: A Review

Galea¹,

Ellul²,

Schembri³

et al. 2014

Neonatal Network

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show abstract

“…Recent studies have identified MYH7 mutations as a cause of Ebstein's anomaly associated with LVNC and other congenital heart disease (CHD). [1] So far, there were only three reported cases of biventricular non-compaction associated with Ebstein's malformation. [38] All these cases had LV dilatation and reduced systolic function in varying degrees.…”

Section: Discussionmentioning

confidence: 99%

“…[1] It is characterized by apical displacement and adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, thereby displacing the functional tricuspid orifice apically and dividing the right ventricle into two portions. [1] The main hemodynamic abnormality which leads to symptoms is tricuspid valve incompetence. These patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD).…”

Section: Introductionmentioning

confidence: 99%

“…These patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD). [1] Associated abnormalities of left ventricular morphology and function including left ventricular non compaction (LVNC) have been reported. [2–7] Non-compaction of the ventricular myocardium is also a rare congenital cardiomyopathy, presumably resulting from an arrest in normal endomyocardial embryogenesis.…”

Section: Introductionmentioning

confidence: 99%

“…[2] Recently, mutations in the sarcomeric protein gene β-myosin heavy chain (MYH7) were described in patients with Ebstein's anomaly associated with LVNC. [1] Interestingly, a higher incidence of WPWS was found in children with isolated non compaction of the ventricular myocardium and in patients with Ebstein's malformation. [6] So far, there have been only two reports of three cases on biventricular non compaction of the ventricular myocardium associated with Ebstein's malformation.…”

Section: Introductionmentioning

confidence: 99%

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A patient of Ebstein's anomaly associated with biventricular noncompaction presented with Wolf Parkinson White syndrome - A rare presentation

Patra

Singla

Kharge

et al. 2012

Journal of Cardiovascular Disease Research

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A 34 year-old male patient presented with recurrent attack of palpitation and chest pain due to Wolf Parkinson White syndrome (WPWS). Two dimensional echocardiography demonstrated features of Ebstein's anomaly along with biventricular non compaction. Color flow Doppler studies confirmed the presence of blood flow within the trabeculations. Biventricular myocardial non-compaction associated with Ebstein's anomaly who presented with WPWS is a very rare association. So far, Medline search revealed only three reported cases in the literatures. The patient was treated with radiofrequency ablation of right sided posteroseptal accessory pathway of WPWS and was asymptomatic in further follow-up.

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Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation

Bettinelli

Mulder

Funke³

et al. 2013

American J of Med Genetics Pt A

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Ebstein anomaly is a rare congenital heart defect that most often occurs sporadically within a kindred. Familial cases, although reported, are uncommon. At this time, the genetic etiology of Ebstein anomaly is not fully elucidated. Here, we describe clinical and molecular investigations of a rare case of familial Ebstein anomaly in association with a likely pathogenic mutation of the MYH7 gene. The severity of presentation varies, and Ebstein anomaly can be observed in association with such other heart defects as ventricular septal defect and left ventricular (LV) hypertrabeculation, as seen in our family of study. In our family of study, the 31-year-old father and four of his children have been diagnosed with Ebstein anomaly. Genetic testing revealed that the father was heterozygous for the Glu1220del variant detected in exon 27 of the MYH7 gene. The MYH7 gene encodes the β-myosin heavy chain and is expressed in cardiac muscle. DNA sequencing of three of his affected children confirmed that they carried the same variant while the fourth affected child was not available for testing. This is the first report of familial Ebstein anomaly associated with the Glu1220del mutation of the MYH7 gene. The mutation segregates with disease in a family with autosomal dominant transmission of congenital heart defects including Ebstein anomaly and other associated cardiovascular defects including LV hypertrabeculation and ventricular septal defect.

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Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7

Cited by 29 publications

References 32 publications

Ebstein Anomaly: A Review

Ebstein Anomaly: A Review

A patient of Ebstein's anomaly associated with biventricular noncompaction presented with Wolf Parkinson White syndrome - A rare presentation

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation

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