Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Right ventricular cavity near obliteration in neonatal severe biventricular hypertrophic cardiomyopathy.

ABSTRACT: A newborn presenting with cyanosis at day 9 of life was admitted to the local hospital. Initial local echocardiography confirmed a cardiac issue and the patient was transferred to a tertiary cardiac hospital. Further imaging confirmed a rare presentation of cardiomyopathy with severe right ventricular outflow tract obstruction. Surgery was performed but with postoperative haemodynamic instability complicated by incessant ventricular tachycardia. Following discussion with the family, care was withdrawn. Postmortem demonstrated a rare form of hypertrophic cardiomyopathy with right ventricular outflow tract obstruction not previously described in a neonate.

SUBMITTER: Jivanji SG

PROVIDER: S-EPMC4208136 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Right ventricular cavity near obliteration in neonatal severe biventricular hypertrophic cardiomyopathy.

Jivanji Salim G M SG Daubeney Piers P Franklin Rodney R Sheppard Mary M

BMJ case reports 20141021

A newborn presenting with cyanosis at day 9 of life was admitted to the local hospital. Initial local echocardiography confirmed a cardiac issue and the patient was transferred to a tertiary cardiac hospital. Further imaging confirmed a rare presentation of cardiomyopathy with severe right ventricular outflow tract obstruction. Surgery was performed but with postoperative haemodynamic instability complicated by incessant ventricular tachycardia. Following discussion with the family, care was wit ...[more]

PMID: 25336549

Similar Datasets

Arrhythmogenic right ventricular cardiomyopathy with evidence of biventricular involvement.

Project description: Not available

| S-EPMC1891138 | biostudies-literature

The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy.

Project description:IntroductionSevere right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH.MethodsHCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH. Patients with apical hypertrophic cardiomyopathy (ApHCM) were selected as a comparison group. The clinical features and outcomes of 34 HCM patients with SRVH and 273 ApHCM patients were compared.ResultsCompared with the ApHCM group, the HCM with SRVH group included younger patients and a higher proportion of female patients and also displayed higher cardiovascular morbidity and mortality. The multivariate Cox proportional hazards regression models identified 2 independent predictors of cardiovascular death in HCM patients with SRVH, a New York Heart Association class ≥III (hazard ratio [HR] = 8.7, 95% confidence interval (CI): 1.43-52.87, p = 0.019) and an age at the time of HCM diagnosis ≤18 (HR = 5.5, 95% CI: 1.24-28.36, p = 0.026). Among the 11 HCM patients with SRVH who underwent WGS, 10 (90.9%) were identified as carriers of at least one specific sarcomere gene mutation. MYH7 and TTN mutations were the most common sarcomere mutations noted in this study. Two or more HCM-related gene mutations were observed in 9 (82%) patients, and mutations in either other cardiomyopathy-related genes or ion-channel disease-related genes were found in 8 (73%) patients.ConclusionsHCM patients with SRVH were characterized by poor clinical outcomes and the presentation of multiple gene mutations.

| S-EPMC5360271 | biostudies-literature

A Case of Biventricular Hypertrophic Obstructive Cardiomyopathy: Echocardiographic Diagnosis.

Project description: Not available

| S-EPMC9969789 | biostudies-literature

Assessing right ventricular deformation in hypertrophic cardiomyopathy patients with preserved right ventricular ejection fraction: a 3.0-T cardiovascular magnetic resonance study.

Project description:To assess the global and regional right ventricular (RV) deformation in hypertrophic cardiomyopathy (HCM) patients with preserved right ventricular ejection fraction (RVEF) using 3.0-T cardiovascular magnetic resonance tissue tracking (CMR-TT). Eighty-two HCM patients and 32 age- and sex-matched healthy controls were enrolled. HCM patients were divided into groups depending on the presence or absence of right ventricular hypertrophy (RVH), RV late gadolinium enhancement (RV-LGE), and left ventricular outflow tract obstruction (LVOTO), respectively. The RV global and apical longitudinal peak strain (LPS) in HCM patients with RVH were significantly lower than that in HCM patients without RVH and controls (P < 0.05). The global, apical and mid-ventricular LPS in HCM patients with RV-LGE were significantly lower than that in HCM patients without RV-LGE and controls (P < 0.05). Lower LPS was demonstrated in HCM patients without RV-LGE compared with controls in apical and mid-ventricular levels (P < 0.05). No significant difference was found regarding global and regional LPS in HCM patients with LVOTO compared without LVOTO (all P > 0.05). CMR-TT was able to detect subclinical RV myocardial deformation prior to RVEF impairment, which was more severe in the presence of RVH and RV-LGE.

| S-EPMC7004999 | biostudies-literature

Prevalence, functional characteristics, and clinical significance of right ventricular involvement in patients with hypertrophic cardiomyopathy.

Project description:We sought to investigate the prevalence, functional characteristics, and clinical significance of right ventricular (RV) involvement in patients with hypertrophic cardiomyopathy (HCM). A total of 256 patients with HCM who underwent both cardiac magnetic resonance (CMR) imaging and transthoracic echocardiography within 6 months of each other were retrospectively analysed. RV involvement was defined as an increased RV wall thickness ≥ 7 mm on CMR in the segments of the RV free wall. Primary outcomes were defined as the composite of all-cause death, heart transplantation, and unplanned cardiovascular admission. Thirty-seven (14.4%) patients showed RV involvement. Patients with RV involvement showed a significantly higher left ventricular (LV) maximal wall thickness and left atrial volume index. Multivariate Cox model revealed that RV involvement was independently associated with primary outcomes (HR: 2.30, p = 0.024). In a subgroup analysis of patients with speckle tracking echocardiography (n = 190), those with RV involvement had significantly more impaired RV strain, which was independently associated with primary outcomes. RV involvement in patients with HCM correlated with more advanced LV structure and biventricular dysfunction, suggesting an indicator of severe HCM. RV involvement and impaired RV strain have a prognostic value related to clinical adverse events in patients with HCM.

| S-EPMC7736330 | biostudies-literature

Right-ventricular mechanics assessed by cardiovascular magnetic resonance feature tracking in children with hypertrophic cardiomyopathy.

Project description:BackgroundAlthough hypertrophic cardiomyopathy (HCM) is considered a disease of the left ventricle (LV), right ventricular (RV) abnormalities have also been reported on. Cardiovascular magnetic resonance feature tracking (CMR-FT) accurately and reproducibly quantifies RV myocardial deformation.AimTo investigate RV deformation disorders in childhood HCM using CMR-FT.Material and methodsConsecutive subjects aged <18 years with echocardiographic evidence of HCM were enrolled. Cardiovascular magnetic resonance (CMR) was performed including RV volumetric and functional assessment, and late gadolinium enhancement (LGE) imaging.ResultsWe included 54 children (37 males, 68.5%) with HCM, of which 28 patients (51.8%; mean extent of 2.18 ± 2.34% of LV mass) had late gadolinium enhancement. LV outflow tract obstruction (LVOTO) was detected in 19 subjects (35.2%). In patients with LVOTO, RV global longitudinal strain (RVGLS) (-16.1±5.0 vs. -20.7±5.3, p<0.01), RVGLS rate (-1.05±0.30 vs. -1.26±0.40, p = 0.03), RV radial strain (RVR) (15.8±7.7 vs. 22.1±7.0, p<0.01) and RVR rate (0.95±0.35 vs. 1.6±0.44, p<0.01) were lower than in patients without LVOTO. The RVR rate (p<0.01) was lower in patients with LGE in comparison to patients without LGE.ConclusionsChildren with HCM, especially with LVOTO, have significantly reduced indices of RV mechanics despite normal RV systolic function. It seems that the degree of LVOT obstruction is responsible for compromising the RV dynamics, rather than either mass or the amount of LV fibrosis.

| S-EPMC7971555 | biostudies-literature

Right ventricular pacing for hypertrophic obstructive cardiomyopathy: meta-analysis and meta-regression of clinical trials.

Project description:AimsRight ventricular pacing for left ventricular outflow tract gradient reduction in hypertrophic obstructive cardiomyopathy remains controversial. We undertook a meta-analysis for echocardiographic and functional outcomes.Methods and resultsThirty-four studies comprising 1135 patients met eligibility criteria. In the four blinded randomized controlled trials (RCTs), pacing reduced gradient by 35% [95% confidence interval (CI) 23.2-46.9, P < 0.0001], but there was only a trend towards improved New York Heart Association (NYHA) class [odds ratio (OR) 1.82, CI 0.96-3.44; P = 0.066]. The unblinded observational studies reported a 54.3% (CI 44.1-64.6, P < 0.0001) reduction in gradient, which was a 18.6% greater reduction than the RCTs (P = 0.0351 for difference between study designs). Observational studies reported an effect on unblinded NYHA class at an OR of 8.39 (CI 4.39-16.04, P < 0.0001), 450% larger than the OR in RCTs (P = 0.0042 for difference between study designs). Across all studies, the gradient progressively decreased at longer follow durations, by 5.2% per month (CI 2.5-7.9, P = 0.0001).ConclusionRight ventricular pacing reduces gradient in blinded RCTs. There is a non-significant trend to reduction in NYHA class. The bias in assessment of NYHA class in observational studies appears to be more than twice as large as any genuine treatment effect.

| S-EPMC6775860 | biostudies-literature

Effect of obstructive sleep apnea on right ventricular ejection fraction in patients with hypertrophic obstructive cardiomyopathy.

Project description:BackgroundObstructive sleep apnea (OSA) is a common disease associated with worse structural and functional impairment of the heart in patients with hypertrophic obstructive cardiomyopathy (HOCM).HypothesisThe presence and severity of OSA can decrease the right ventricular ejection fraction (RVEF) in patients with HOCM.MethodsIn total, 151 consecutive patients with a confirmed diagnosis of HOCM at Fuwai Hospital between September 2017 and September 2018 were included. Polysomnography and cardiac magnetic resonance imaging were performed in all patients.ResultsOverall, 84 (55.6%) patients were diagnosed with OSA. The RVEF significantly decreased with the severity of OSA (none, mild, moderate-severe: 46.1 ± 8.2 vs 42.9 ± 7.5 vs 41.4 ± 7.4, P = .009). The apnea-hypopnea index (AHI) was significantly high in patients with RVEF<40% among the different OSA groups (mild, moderate:7.7 ± 2.4 vs 9.6 ± 2.9, P = .03; 24.4 ± 9.0 vs 36.3 ± 18.0, P = .01). In the multiple linear regression model, the right ventricular end-systolic volume (β = -0.28, P < .001), AHI (β = -0.09, P = .02), and oxygen desaturation index (β = -0.11, P = .04) were independently associated with a decrease in RVEF (adjusted R2 = 0.347, P < .001). Furthermore, the prevalence of RVEF<40% was high in patients with OSA. Compared with RVEF>40%, RVEF<40% was associated with more symptoms, mainly chest pain, chest distress, NYHA class III or IV, pulmonary hypertension, and moderate or severe mitral regurgitation.ConclusionIn patients with HOCM, the presence and severity of OSA is independently associated with a lower RVEF. In addition, compared with patients with RVEF>40%, those with RVEF<40% had more symptoms, including chest pain, chest distress, and NYHA class III or IV.

| S-EPMC7534009 | biostudies-literature

Dual Endothelin Receptor Blockade Abrogates Right Ventricular Remodeling and Biventricular Fibrosis in Isolated Elevated Right Ventricular Afterload.

Project description:BackgroundPulmonary arterial hypertension is usually fatal due to right ventricular failure and is frequently associated with co-existing left ventricular dysfunction. Endothelin-1 is a powerful pro-fibrotic mediator and vasoconstrictor that is elevated in pulmonary arterial hypertension. Endothelin receptor blockers are commonly used as pulmonary vasodilators, however their effect on biventricular injury, remodeling and function, despite elevated isolated right ventricular afterload is unknown.MethodsElevated right ventricular afterload was induced by progressive pulmonary artery banding. Seven rabbits underwent pulmonary artery banding without macitentan; 13 received pulmonary artery banding + macitentan; and 5 did not undergo inflation of the pulmonary artery band (sham-operated controls).ResultsRight and left ventricular collagen content was increased with pulmonary artery banding compared to sham-operated controls and ameliorated by macitentan. Right ventricular fibrosis signaling (connective tissue growth factor and endothelin-1 protein levels); extra-cellular matrix remodeling (matrix-metalloproteinases 2 and 9), apoptosis and apoptosis-related peptides (caspases 3 and 8) were increased with pulmonary artery banding compared with sham-operated controls and decreased with macitentan.ConclusionIsolated right ventricular afterload causes biventricular fibrosis, right ventricular apoptosis and extra cellular matrix remodeling, mediated by up-regulation of endothelin-1 and connective tissue growth factor signaling. These pathological changes are ameliorated by dual endothelin receptor blockade despite persistent elevated right ventricular afterload.

| S-EPMC4713098 | biostudies-literature

Biventricular remodeling in murine models of right ventricular pressure overload.

Project description:Right ventricular (RV) failure is a major cause of mortality in acute or chronic lung disease and left heart failure. The objective of this study was to demonstrate a percutaneous approach to study biventricular hemodynamics in murine models of primary and secondary RV pressure overload (RVPO) and further explore biventricular expression of two key proteins that regulate cardiac remodeling: calcineurin and transforming growth factor beta 1 (TGF?1).Adult, male mice underwent constriction of the pulmonary artery or thoracic aorta as models of primary and secondary RVPO, respectively. Conductance catheterization was performed followed by tissue analysis for changes in myocyte hypertrophy and fibrosis.Both primary and secondary RVPO decreased biventricular stroke work however RV instantaneous peak pressure (dP/dtmax) and end-systolic elastance (Ees) were preserved in both groups compared to controls. In contrast, left ventricular (LV) dP/dtmax and LV-Ees were unchanged by primary, but reduced in the secondary RVPO group. The ratio of RV:LV ventriculo-arterial coupling was increased in primary and reduced in secondary RVPO. Primary and secondary RVPO increased RV mass, while LV mass decreased in primary and increased in the secondary RVPO groups. RV fibrosis and hypertrophy were increased in both groups, while LV fibrosis and hypertrophy were increased in secondary RVPO only. RV calcineurin expression was increased in both groups, while LV expression increased in secondary RVPO only. Biventricular TGF?1 expression was increased in both groups.These data identify distinct effects of primary and secondary RVPO on biventricular structure, function, and expression of key remodeling pathways.

| S-EPMC3728304 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data