Browse
Submit Data
Databases
API
Help

Dataset Information

28 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.

ABSTRACT: Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein. The resulting genotype variation may be responsible for causing the diseased phenotype known as GD.

SUBMITTER: Borkar Y

PROVIDER: S-EPMC5427333 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.

Borkar Yashvanthi Y Nayak Krishnananda K Shetty Ranjan K RK Bhat Gopalakrishna G Moka Rajasekhar R

Journal of clinical and diagnostic research : JCDR 20170301 3

Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 ...[more]

PMID: 28511407

Similar Datasets

A Case of Gerbode Ventricular Septal Defect Endocarditis.

Project description:•A Gerbode VSD is a communication between the left ventricle and right atrium.•Etiologies include trauma, infective endocarditis, and iatrogenic causes.•Echocardiographic evaluation for this defect requires a careful interrogation.

| S-EPMC6200681 | biostudies-other

Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect.

Project description:Copy number variants (CNVs) are major variations contributing to the gene heterogeneity of congenital heart diseases (CHD). pulmonary atresia with ventricular septal defect (PA-VSD) is a rare form of cyanotic CHD characterized by complex manifestations and the genetic determinants underlying PA-VSD are still largely unknown. We investigated rare CNVs in a recruited cohort of 100 unrelated patients with PA-VSD, PA-IVS, or TOF and a population-matched control cohort of 100 healthy children using whole-exome sequencing. Comparing rare CNVs in PA-VSD cases and that in PA-IVS or TOF positive controls, we observed twenty-two rare CNVs only in PA-VSD, five rare CNVs only in PA-VSD and TOF as well as thirteen rare CNVs only in PA-VSD and PA-IVS. Six of these CNVs were considered pathogenic or potentially pathogenic to PA-VSD: 16p11.2 del (PPP4C and TBX6), 5q35.3 del (FLT4), 5p13.1 del (RICTOR), 6p21.33 dup (TNXB), 7p15.2 del (HNRNPA2B1), and 19p13.3 dup (FGF22). The gene networks showed that four putative candidate genes for PA-VSD, PPP4C, FLT4, RICTOR, and FGF22 had strong interaction with well-known cardiac genes relevant to heart or blood vessel development. Meanwhile, the analysis of transcriptome array revealed that PPP4C and RICTOR were also significantly expressed in human embryonic heart. In conclusion, three rare novel CNVs were identified only in PA-VSD: 16p11.2 del (PPP4C), 5q35.3 del (FLT4) and 5p13.1 del (RICTOR), implicating novel candidate genes of interest for PA-VSD. Our study provided new insights into understanding for the pathogenesis of PA-VSD and helped elucidate critical genes for PA-VSD.

| S-EPMC6360179 | biostudies-literature

The Gerbode defect: a case series.

Project description:BackgroundThe Gerbode defect is a rare abnormal communication between the left ventricle (LV) and right atrium (RA). The lesion is either congenital or acquired. Acquired defects are largely iatrogenic or infective in origin. We present two cases of acquired Gerbode defects with similar clinical presentations but very different outcomes.Case summariesPatient 1 A 64-year-old male presented with features of decompensated cardiac failure and a low-grade temperature. Dehiscence of a recently implanted bioprosthetic aortic valve and high-velocity LV to RA jet (Gerbode defect) was found on echocardiography. Blood cultures grew Staphylococcus warneri and the diagnosis of infective endocarditis was established. The patient was treated with intravenous antibiotics and the aortic valve and Gerbode defect were successfully surgically repaired.Patient 2 An 81-year-old male presented after being found on the floor at home. On admission, he was clinically septic with evidence of decompensated heart failure. No clear infective focus was initially found. Transthoracic echocardiography revealed severe left ventricular impairment, with a normal bioprosthetic aortic valve. He was treated with intravenous antibiotics, but later deteriorated with evidence of embolic phenomena. Repeat echocardiography revealed a complex infective aortic root lesion with bioprosthetic valve dehiscence and flow demonstrated from the LV to RA. Unfortunately, the patient succumbed to the infection and cardiac complications.DiscussionThe Gerbode defect is a rare but important complication of infective endocarditis and valve surgery. Care needs to be taken to assess for Gerbode defect shunts on echocardiogram, especially in the context of previous cardiac surgery.

| S-EPMC7873810 | biostudies-literature

Supracristal ventricular septal defect.

Project description: Not available

| S-EPMC1413599 | biostudies-literature

A Gerbode defect complicated by pulmonary embolism: a rare case evaluated by cardiac computed tomography.

Project description: Not available

| S-EPMC9851412 | biostudies-literature

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Project description:Ventricular septal defect (VSD) is a fatal congenital heart disease showing severe consequence in affected infants. Early diagnosis plays an important role, particularly through genetic variants. Existing panel-based approaches of variants mining suffer from shortage of large panels, costly sequencing, and missing rare variants. Although a trio-based method alleviates these limitations to some extent, it is agnostic to novel mutations and computational intensive. Considering these limitations, we are studying a novel variants mining algorithm from trio-based sequencing data and apply it on a VSD trio to identify associated mutations. Our approach starts with irrelevant k-mer filtering from sequences of a trio via a newly conceived coupled Bloom Filter, then corrects sequencing errors by using a statistical approach and extends kept k-mers into long sequences. These extended sequences are used as input for variants needed. Later, the obtained variants are comprehensively analyzed against existing databases to mine VSD-related mutations. Experiments show that our trio-based algorithm narrows down candidate coding genes and lncRNAs by about 10- and 5-folds comparing with single sequence-based approaches, respectively. Meanwhile, our algorithm is 10 times faster and 2 magnitudes memory-frugal compared with existing state-of-the-art approach. By applying our approach to a VSD trio, we fish out an unreported gene-CD80, a combination of two genes-MYBPC3 and TRDN and a lncRNA-NONHSAT096266.2, which are highly likely to be VSD-related.

| S-EPMC6694746 | biostudies-literature

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Project description:PurposeThe genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD.MethodsWhole-exome sequencing was performed in 81 unrelated probands with AVSD to identify potentially causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD.ResultsA significant enrichment of rare and rare damaging variants was identified in the gene set, compared with controls (odds ratio (OR): 1.52; 95% confidence interval (CI): 1.35-1.71; P = 4.8 × 10(-11)). The enrichment was specific to AVSD probands, compared with a cohort without AVSD with tetralogy of Fallot (OR: 2.25; 95% CI: 1.84-2.76; P = 2.2 × 10(-16)). Six genes (NIPBL, CHD7, CEP152, BMPR1a, ZFPM2, and MDM4) were enriched for rare variants in AVSD compared with controls, including three syndrome-associated genes (NIPBL, CHD7, and CEP152). The findings were confirmed in a replication cohort of 81 AVSD probands.ConclusionMutations in genes with strong biological relevance to AVSD, including syndrome-associated genes, can contribute to AVSD, even in those with isolated heart disease. The identification of a gene set associated with AVSD will facilitate targeted genetic screening in this cohort.

| S-EPMC5988035 | biostudies-literature

Ventricular Septal Defect from Takotsubo Syndrome.

Project description:Takotsubo Syndrome is a transient condition characterized by left ventricular systolic dysfunction with apical akinesis/dyskinesis and ballooning. Although the prognosis with medical management is excellent in most cases, rare cases of serious complications can occur. We present here a case of a 71-year-old woman presenting with acute decompensated heart failure with initial findings consistent with a myocardial infarction, who was found instead to have an acute ventricular septal defect as a complication of Takotsubo Syndrome.

| S-EPMC4987479 | biostudies-literature

Ventricular septal defect and bivalvular endocarditis.

Project description:A 63-year-old man presented with generalized fatigue, chills, malaise, dyspnea, intermittent fevers, and 50-pound weight loss of 4 months' duration. Blood cultures were positive for pan-sensitive Streptococcus anginosus. Transesophageal echocardiography showed an 11 mm × 3 mm mobile mass attached to the mitral valve, a 16 mm × 16 mm mobile mass attached to the pulmonary valve, and a small membranous ventricular septal defect. The patient received 12 weeks of intravenous (IV) antibiotics with eventual resolution of the masses. Multi-valve endocarditis involving both the left and right chambers is rarely reported without prior history of IV drug use or infective endocarditis. Our case emphasizes the importance of careful assessment for ventricular septal defects or extra-cardiac shunts in individuals who present with simultaneous right and left-sided endocarditis.

| S-EPMC4296393 | biostudies-literature

Case report: echocardiographic detection of rare single coronary artery anomaly in a child with an atrial septal defect.

Project description:BackgroundA single right coronary artery (RCA) with the left anterior descending (LAD) and circumflex coronary arteries located in the usual anatomic position and supplied by collaterals is the rarest variant of single RCA.Case summaryWe report a paediatric patient with an incidental finding of single RCA Lipton type RI pattern during assessment for transcatheter device closure of an ostium secundum atrial septal defect (secASD). Transthoracic echocardiography (TTE) revealed a dilated RCA, abnormal flow in the LAD, and no identifiable left main coronary artery. Diagnosis of a single RCA was confirmed with angiography. Dobutamine stress echocardiography revealed no inducible ischaemia. Transcatheter device closure of the secASD was subsequently successfully performed.DiscussionTTE in paediatric patients can raise suspicion of coronary artery origin anomalies. Additional modalities, such as computed tomography and angiography, are required to comprehensively determine coronary artery anatomy. Functional assessment of ventricular function is also indicated. Coronary artery anatomy is important to delineate prior to transcatheter device closure of a secASD and should be part of the pre-procedure assessment.

| S-EPMC8343448 | 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