Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9

Andelfinger, Grégor; Wright, Kate; Lee, H S; Siemens, Lori M.; Benson, D. Woodrow

doi:10.1136/jmg.40.5.320

Cited by 71 publications

(55 citation statements)

References 27 publications

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“…5 were found in patients with Ebstein anomaly. 6,20 Andelfinger et al 21 demonstrated linkage between tricuspid valve formation and canine chromosome 9 in a region systemic to human chromosome 1q12-q23. Of interest, penetrance of Ebstein anomaly in the dog was estimated to be 68%.…”

Section: Discussionmentioning

confidence: 99%

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Postma

Engelen

Meerakker

et al. 2011

Circ Cardiovasc Genet

165

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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Section: Discussionmentioning

confidence: 99%

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Postma

Engelen

Meerakker

et al. 2011

Circ Cardiovasc Genet

165

105

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“…By way of example, genetic linkage analysis has been used to study familial tricuspid dysplasia in the Labrador Retriever 60 . Investigators identified three purebred Labrador Retriever kindreds that were enriched for tricuspid valve dysplasia and carried out a 15cM genome scan.…”

Section: Mapping Disease Causing Locimentioning

confidence: 99%

Finding cardiovascular disease genes in the dog

Parker

Meurs

Ostrander

2006

Journal of Veterinary Cardiology

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Recent advances in canine genomics are changing the landscape of veterinary biology, and by default, veterinary medicine. No longer are clinicians locked into traditional methods of diagnoses and therapy. Rather major advances in canine genetics and genomics from the past five years are now changing the way the veterinarian of the 21 st century practices medicine.First, the availability of a dense genome map gives canine genetics a much needed foothold in comparative medicine, allowing advances made in human and mouse genetics to be applied to companion animals. Second, the recently released 7.5x whole genome sequence of the dog is facilitating the identification of hereditary disease genes. Finally, development of genetic tools for rapid screening of families and populations at risk for inherited disease means that the cost of identifying and testing for disease loci will significantly decrease in coming years.Out of these advances will come major changes in companion animal diagnostics and therapy. Clinicians will be able to offer their clients genetic testing and counseling for a myriad of disorders. Such advances are certain to generate healthier and more long lived dogs, improving quality of life for owner and pet alike. The clinician of the 21 st century, therefore, faces incredible opportunities as well as challenges in the management of genetic disease. In this review we summarize recent findings in canine genomics and discuss their application to the study of canine cardiac health.

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“…Tricuspid valve dysplasia (TVD) in dogs encompasses a spectrum of congenital malformations of the tricuspid valve (TV) apparatus including focal or diffuse thickening of the leaflets, underdevelopment or undifferentiated chordae tendineae (CT) and papillary muscles (PM), incomplete separation of valve components from the ventricular wall and focal agenesis of valvular tissue, resulting in valvular insufficiency or rarely stenosis (Famula et al, 2002;Andelfinger et al, 2003;MacDonald, 2006;Ohad et al, 2013;Adin, 2014;Lake-Bakaar et al, 2017) (Fig. 1).…”

Section: Introductionmentioning

confidence: 99%

“…In "tricuspid valve dysplasia", the leaflets and tension apparatus are malformed but are not displaced (Becker et al, 1971;Lang et al, 1991). This terminology has been applied to veterinary cardiology (Eyster et al, 1977;Cave, 2001;Andelfinger et al, 2003;Takemura et al, 2003;Sousa et al, 2006;Choi et al, 2009).In dogs, TVD is a rare congenital disease, affecting most commonly Labrador retriever (Wright et al, 2001).…”

Section: Introductionmentioning

confidence: 99%

“…Heritability has been established in Labrador retrievers (Famula et al, 2002) and Dogues de Bordeaux (Ohad et al, 2013), and the disease has been mapped to chromosome 9 in Labrador retrievers (Andelfinger et al, 2003). EM in dogs is even more rarely reported, with only isolated case reports in the literature (Eyster et al, 1977;Takemura et al, 2003;Sousa et al, 2006;Choi et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

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Tricuspid valve dysplasia: A retrospective study of clinical features and outcome in dogs in the UK

Navarro-Cubas¹,

Palermo

French³

et al. 2017

Open Vet J.

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The objective of this study was to determine the demographic, clinical and survival characteristics and to identify risk factors for mortality due to tricuspid valve dysplasia in UK dogs. Records of client-owned dogs diagnosed with tricuspid valve dysplasia at a referral centre were retrospectively reviewed. Only dogs diagnosed with tricuspid valve dysplasia based on the presence of a right-sided heart murmur identified prior to one year of age, and confirmed with Doppler echocardiography, were included. Dogs with concomitant cardiac diseases, pulmonary hypertension and/or trivial tricuspid regurgitation were excluded. Analysed data included signalment, reason for presentation, clinical signs, electrocardiographic and echocardiographic features, survival status and cause of death. Survival times and risk factors for mortality were evaluated using Kaplan-Meier curves and Cox regression. Eighteen dogs met inclusion criteria. Border collies were over-represented (p= 0.014). Dogs were most frequently referred for investigation of heart murmur. The most common arrhythmia was atrial fibrillation (n=3). Median survival time from diagnosis of tricuspid valve dysplasia was 2775 days (range 1-3696 days; 95% CI 1542.41-4007.59) and from onset of right-sided congestive heart failure was 181 days (range 1-2130 days; 95% CI 0-455.59). Syncope was the sole risk factor for cardiac death. In this population of UK dogs, tricuspid valve dysplasia was uncommon but, when severe, frequently led to rightsided congestive heart failure. Prognosis was favourable for mild and moderate tricuspid dysplasia. Survival time was reduced with right-sided congestive heart failure but varied widely. Risk of cardiac death was significantly increased if syncope had occurred.

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Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9

Cited by 71 publications

References 27 publications

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Finding cardiovascular disease genes in the dog

Tricuspid valve dysplasia: A retrospective study of clinical features and outcome in dogs in the UK

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