Project description:Ebstein anomaly of the tricuspid valve is a congenital cardiac malformation characterised by downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Canine tricuspid valve malformation (CTVM) is morphologically similar to Ebstein anomaly; familial occurrence of CTVM has been described. Several observations suggest a genetic cause but most cases appear to be sporadic.Three purebred Labrador Retriever kindreds enriched for CTVM underwent clinical examination and echocardiography. DNA was extracted from whole blood. Genotyping was carried out using polymorphic repeat markers with an average spacing of 15 cM and polymorphic information content of 0.74.Pedigree analysis identified CTVM segregating as an autosomal dominant trait with reduced penetrance. Genome wide linkage analysis in one kindred identified a CTVM susceptibility locus on dog chromosome 9 (CFA9) with a maximum multipoint lod score of 3.33. The two additional kindreds showed a conserved disease haplotype.This study identifies a CTVM susceptibility locus on CFA9 and a founder effect in apparently unrelated Labrador Retriever kindreds. These results provide the basis for a positional candidate cloning effort to identify the CTVM disease gene. Identification of the CTVM gene will permit mutation screening of patients with Ebstein anomaly, which should provide additional insights into the genetic programmes of valve development.

| S-EPMC1735483 | biostudies-other

Transcatheter Systemic AV Valve-in-Valve Implantation in a Patient With LTGA and Ebstein Anomaly.

Project description:We present the first in-human transcatheter systemic atrioventricular valve-in-valve implantation in a 37-year-old patient with Ebstein anomaly, levo-transposition of the great arteries, and prior systemic valve replacement. She had severe bioprosthetic valve regurgitation and reduced systolic function. She had high surgical risk and was planned for transcatheter intervention. (Level of Difficulty: Advanced.).

| S-EPMC9091525 | biostudies-literature

Spontaneous Partial Dehiscence of Trifecta Bioprosthetic Valve Leaflet.

Project description:A 69-year-old man presented for valve-in-valve transcatheter aortic valve replacement for bioprosthetic aortic stenosis. He was discovered to have severe aortic regurgitation caused by partial dehiscence of an aortic valve leaflet. We highlight the mode of degeneration of aortic valve prosthesis and the risks of transcatheter aortic valve replacement in this context.

| S-EPMC11911898 | biostudies-literature

Bioprosthetic tricuspid valve stenosis: a case series.

Project description:Bioprosthetic tricuspid valve stenosis is a late sequela of tricuspid valve replacement (TVR); however, detailed information regarding its clinical picture is lacking. Thirty-one patients with bioprosthetic TVR (mean age: 60.5 ± 16.6 years, male/female: 11/20) were followed-up for 79.5 ± 49.1 months (14-188 months). Eleven patients developed bioprosthetic tricuspid valve stenosis (mean tricuspid gradient >5 mmHg) at a median interval of 96 months (interquartile range: 61-114 months). The mean tricuspid gradient at the time of tricuspid valve stenosis diagnosis was 10.9 ± 3.9 mmHg. Although the mid-term tricuspid valve stenosis-free survival was favourable (92.4% at 60 and 78.7% at 84 months), it had declined steeply to 31.5% by 120 months. Ten out of 11 tricuspid valve stenosis patients showed signs of right heart failure (RHF) as manifested by oedema and elevated jugular venous pressure, requiring moderate-to-high doses of diuretics. Diastolic rumble was audible in 10 patients. Five of the 11 tricuspid valve stenosis patients required redo TVR as a result of refractory RHF. Examination of the five excised bioprostheses showed pannus in four, fusion of the commissure in three, native valve attachment in two, and sclerosis in one. Detailed clinical pictures and pathology of the explanted valves in three cases that underwent surgery are presented in this case series. Bioprosthetic tricuspid valve stenosis is not uncommon after 8 years. Tricuspid valve replacement performed at the second surgery was associated with a higher incidence of bioprosthetic tricuspid valve stenosis.

| S-EPMC6764547 | biostudies-literature

Transcatheter tricuspid valve-in-valve implantation in a dysfunctional bioprosthetic valve.

Project description: Not available

| S-EPMC8167470 | biostudies-literature

Rivero-Carvallo Sign in Bioprosthetic Tricuspid Valve Stenosis.

Project description:In a case with bioprosthetic tricuspid stenosis, simultaneous phonocardiogram and Doppler recordings revealed that the louder diastolic rumble in inspiration (Rivero-Carvallo sign) is related to increased tricuspid gradient caused by less prominent decrease of right atrial pressure compared with that of the right ventricle in inspiration caused by tricuspid stenosis. (Level of Difficulty: Intermediate.).

| S-EPMC10544428 | biostudies-literature

Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study.

Project description:Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live-born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23-center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live-born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live-born patients, 7 received comfort care, 11 died <24 hours after birth, and 4 had insufficient data. Among 154 remaining patients, 38 (25%) did not survive to discharge. Nearly half (46%) underwent intervention. Mortality differed by procedure; no deaths occurred in patients who underwent right ventricular exclusion. At discharge, 56% of the cohort had a biventricular circulation (13% following intervention) and 19% were palliated. Lower tricuspid regurgitation jet velocity (odds ratio [OR], 2.3 [1.1-5.0], 95% CI, per m/s; P=0.025) and lack of antegrade flow across the pulmonary valve (OR, 4.5 [1.3-14.2]; P=0.015) were associated with neonatal mortality by multivariable logistic regression. These variables, along with smaller pulmonary valve dimension, were also associated with a palliated outcome. Conclusions Among neonates with Ebstein anomaly or tricuspid valve dysplasia diagnosed in utero, a variety of management strategies were used across centers, with poor outcomes overall. High-risk patients with low tricuspid regurgitation jet velocity and no antegrade pulmonary blood flow should be considered for right ventricular exclusion to optimize their chance of survival.

| S-EPMC7763426 | biostudies-literature

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