scholarly journals Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular septal defect (VSD)

2018 ◽  
Author(s):  
Ray Bahado-Singh ◽  
Samet Albayrak ◽  
Rita Zafra ◽  
Alosh Baraa ◽  
Avinash M Veerappa ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Cardiac Muscle ◽  
Heart Development ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Characteristic Curve ◽  
A Genome ◽  
Differentially Methylated Genes ◽  
Cardiac Ventricle

AbstractVentricular Septal Defect (VSD), the most common congenital heart defect, is characterized by a hole in the septum between the right and left ventricles. The pathogenesis of VSD is unknown in most clinical cases. There is a paucity of data relevant to epigenetic changes in VSD. The placenta is a fetal tissue and is a potentially useful surrogate for the evaluation of fetal organ development. To understand epigenetic mechanisms that may play a role in the development of VSD, a genome-wide DNA methylation assay of the placentas of 8 term subjects with isolated VSD and no known or suspected genetic syndromes and 10 normal controls was performed using the Illumina HumanMethylation450 BeadChip assay. The study identified a total of 80 highly accurate potential epigenomic markers in 80 genes for the detection of VSD; area under the receiver operating characteristic curve (AUC ROC) = 1.0 with significant 95% CI (FDR) p-values < 0.05. The biological processes and functions for these differentially methylated genes are known to be associated with heart development or heart disease, including cardiac ventricle development (HEY2, ISL1), heart looping (SRF), cardiac muscle cell differentiation (ACTC1, HEY2), cardiac septum development (ISL1), heart morphogenesis (SRF, HEY2, ISL1, HEYL), Notch signaling pathway (HEY2, HEYL), cardiac chamber development (ISL1), and cardiac muscle tissue development (ACTC1, ISL1). The study also identified eight microRNA genes that have the potential to be biomarkers for the early detection of VSD including miR-191, miR-548F1, miR-148A, miR-423, miR-92B, miR-611, miR-2110, and miR-548H4. To our knowledge this is the first report in which placental analysis has been used for determining the pathogenesis of and predicting CHD.

scholarly journals Abnormal Cardiac Development in the Absence of Heart Glycogen

2004 ◽  
Vol 24 (16) ◽  
pp. 7179-7187 ◽  
Author(s):  
Bartholomew A. Pederson ◽  
Hanying Chen ◽  
Jill M. Schroeder ◽  
Weinian Shou ◽  
Anna A. DePaoli-Roach ◽  
...  
Keyword(s):  
Cardiac Function ◽  
Cardiac Muscle ◽  
Heart Development ◽  
Congenital Heart ◽  
Cardiac Development ◽  
Glycogen Synthase ◽  
Heart Defects ◽  
Mendelian Inheritance ◽  
And Function ◽  
Impaired Cardiac Function

ABSTRACT Glycogen serves as a repository of glucose in many mammalian tissues. Mice lacking this glucose reserve in muscle, heart, and several other tissues were generated by disruption of the GYS1 gene, which encodes an isoform of glycogen synthase. Crossing mice heterozygous for the GYS1 disruption resulted in a significant underrepresentation of GYS1-null mice in the offspring. Timed matings established that Mendelian inheritance was followed for up to 18.5 days postcoitum (dpc) and that ∼90% of GYS1-null animals died soon after birth due to impaired cardiac function. Defects in cardiac development began between 11.5 and 14.5 dpc. At 18.5 dpc, the hearts were significantly smaller, with reduced ventricular chamber size and enlarged atria. Consistent with impaired cardiac function, edema, pooling of blood, and hemorrhagic liver were seen. Glycogen synthase and glycogen were undetectable in cardiac muscle and skeletal muscle from the surviving null mice, and the hearts showed normal morphology and function. Congenital heart disease is one of the most common birth defects in humans, at up to 1 in 50 live births. The results provide the first direct evidence that the ability to synthesize glycogen in cardiac muscle is critical for normal heart development and hence that its impairment could be a significant contributor to congenital heart defects.

scholarly journals Left Ventricular Noncompaction Is More Prevalent in Ventricular Septal Defect Than Other Congenital Heart Defects: A Morphological Study

2020 ◽  
Vol 7 (4) ◽  
pp. 39
Author(s):  
Laís Costa Marques ◽  
Gabriel Romero Liguori ◽  
Ana Carolina Amarante Amarante Souza ◽  
Vera Demarchi Aiello
Keyword(s):  
Ventricular Septal Defect ◽  
Congenital Heart Defects ◽  
Morphological Study ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Atrioventricular Septal Defect ◽  
Left Ventricular ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction

Left ventricular noncompaction (LVNC) is a condition characterized by prominent ventricular trabeculae and deep intertrabecular recesses and has been described as a possible substrate for arrhythmias, thromboembolism, and heart failure. Herein, we explored the prevalence of LVNC morphology among hearts with congenital heart defects (CHD). We examined 259 postnatal hearts with one of the following CHD: isolated ventricular septal defect (VSD); isolated atrial septal defect (ASD); atrioventricular septal defect (AVSD); transposition of the great arteries (TGA); isomerism of the atrial appendages (ISOM); Ebstein’s malformation (EB); Tetralogy of Fallot (TF). Eleven hearts from children who died of non-cardiovascular causes were used as controls. The thickness of the compacted and non-compacted left ventricular myocardial wall was determined and the specimens classified as presenting or not LVNC morphology according to three criteria, as proposed by Chin, Jenni, and Petersen. Normal hearts did not present LVNC, but the CHD group presented different percentages of LVNC in at least one diagnostic criterium. The prevalence of LVNC was respectively, according to Chin’s, Jenni´s and Petersen´s methods: for VSD—54.2%, 35.4%, and 12.5%; ASD—8.3%, 8.3%, and 8.3%; AVSD—2.9%, 2.9%, and 0.0%; TGA—22.6%, 17%, and 5.7%; ISOM—7.1%, 7.1%, and 7.1%; EB—28.6%, 9.5%, and 0.0%; TF—5.9%. 2.9%, and 2.9%. VSD hearts showed a significantly greater risk of presenting LVNC when compared to controls (Chin and Jenni criteria). No other CHD presented similar risk. Current results show some agreement with previous studies, such as LVNC morphology being more prevalent in VSDs. Nonetheless, this is a morphological study and cannot be correlated with symptoms or severity of the CHD.

scholarly journals A rare case of pulmonary valve infective endocarditis in a patient with ventricular septal defect

2020 ◽  
Vol 29 (3) ◽  
pp. 206-208
Author(s):  
Raja Ezman Faridz Raja Shariff ◽  
Sazzli Shahlan Kasim ◽  
Hafisyatul Aiza Zainal Abidin
Keyword(s):  
Risk Factors ◽  
Infective Endocarditis ◽  
Ventricular Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Surgical Intervention ◽  
Heart Defects ◽  
Unknown Origin ◽  
Common Risk Factors

Right-sided infective endocarditis (IE) is rare and often affects the tricuspid valve. We report a unique case of pulmonary valve IE in a patient with a predisposing congenital heart defect – a ventricular septal defect (VSD). A 23-year old man with a VSD was admitted following 3 months’ history of fever and malaise. An initial transthoracic echocardiogram (TTE) failed to reveal any visible vegetations or mass. However, blood cultures revealed persistent methicillin-sensitive S taphylococcus aureus (MSSA). A transoesophageal echocardiogram (TOE) showed multiple hyperechoic structures in the entirety of the anterior cusp of the pulmonary valve, suggestive of vegetations. In view of his young age and subacute presentation, a trial of prolonged antibiotics was opted for. The patient was commenced on intravenous cloxacillin for 6 weeks, which was successful. Common risk factors for right-sided IE include intravenous drug abuse, central venous catheterization and alcoholism. Less common risk factors include left-to-right shunts, including VSD. Proposed mechanisms include turbulent jet flow causing damage to the valve and vegetation formation. Although response to antibiotics and prognosis in right-sided IE tend to be better than in left-sided IE, surgical intervention may still be indicated, and unfortunately, evidence remains scarce on the appropriate patient selection for surgical intervention. Isolated pulmonary valve IE due to predisposing VSD remains a rare entity. It is important to consider this diagnosis in prolonged pyrexia of unknown origin in individuals with known congenital heart defects.

Right-Sided Infective Endocarditis, Pulmonary Embolism and Infarction in Adult with Uncorrected Ventricular Septal Defect

2020 ◽  
Vol 6 (1) ◽  
pp. 69-72
Author(s):  
Cindarwati Mega Riyanto ◽  
Anggoro Budi Hartopo ◽  
Dyah Wulan Anggrahini ◽  
Lucia Kris Dinarti
Keyword(s):  
Pulmonary Embolism ◽  
Infective Endocarditis ◽  
Ventricular Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Defect Closure ◽  
Pulmonary Infarction ◽  
Vegetation Removal

Right-sided infective endocarditis (IE) is very rare and mostly occurs in the tricuspid valve, which pulmonary valve involvement in very rare. Most IE of the pulmonary valve occurs in patients with congenital heart defects. we report a case of the complications of pulmonary valve IE and pulmonary embolism which then causes pulmonary infarction in patients with VSD who have not been corrected. This case successfully underwent surgery for endocarditis/vegetation removal and septal defect closure.

scholarly journals The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

2019 ◽  
Vol 65 (6) ◽  
pp. 786-790
Author(s):  
Han-Quan Dong ◽  
Yue-Xin Du
Keyword(s):  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Chinese Han ◽  
Han Population

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

scholarly journals PREVALENCE OF CONGENITAL HEART DISEASE IN UMERKOT

2021 ◽  
Vol 70 (Suppl-4) ◽  
pp. S824-27
Author(s):  
Mohsin Saif ◽  
Abdul Fatah ◽  
Waqas Akhtar ◽  
Farah Javed ◽  
Ali Mujtaba Tahir ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cross Sectional ◽  
Male Preponderance

Objective: To study the prevalence and the pattern of distribution of congenital heart disease.Study Design: Descriptive cross-sectional study.Place and Duration of Study: The study was conducted at outpatient department (OPD) of CMH Chhor and DHQ Umerkot, Sindh (Pakistan), from Dec 2019 to Mar 2020.Methodology: All the children (<12 years age) presenting to Paediatric OPD of the two hospitals were enrolled into study. Any patient with either a history or clinical examination pointing towards a suspected congenital heart disease was referred to Paediatric Cardiologist for 2-D echocardiogram. Details of the patient were recorded on designated proforma. Results: A total of 273 patients were diagnosed with congenital heart disease. Out of these, 114 (41.7%) were female and 159 (58.2%) were male (male: female of 1.4:1). The age of the children was ranging from 2 months to 12 years, 153 (56.04%) had simple heart defects, while 120 (43.9%) had complex or multiple congenital heart anomalies. Amongst the 273 patients, 25.3% were cyanotic and 74.7% had acyanotic heart disease. Most common lesion identified was ventricular septal defect (29.6%), followed by Tetralogy of Fallot in 20.8%. Conclusion: Acyanotic heart defects confirms to the major bulk of congenital heart defects with male preponderance.

Echocardiographic Diagnosis of Congenital Membranous Ventricular Septal Aneurysm in the Dog and Cat

2005 ◽  
Vol 41 (4) ◽  
pp. 215-220 ◽  
Author(s):  
William P. Thomas
Keyword(s):  
Ventricular Septal Defect ◽  
Right Ventricle ◽  
Cardiac Dysfunction ◽  
Congenital Heart ◽  
Septal Defect ◽  
Incidental Finding ◽  
Heart Defects ◽  
Thin Membrane ◽  
Echocardiographic Examination ◽  
The Right

Membranous ventricular septal aneurysm was diagnosed by echocardiography in 17 dogs and three cats. The aneurysm appeared as a thin membrane protruding into the right ventricle from the margins of a congenital ventricular septal defect (VSD). The aneurysm was intact in nine dogs and two cats and perforated by a small VSD in eight dogs and one cat. Other congenital heart defects were present in seven dogs. In all animals, the aneurysm was an incidental finding observed during echocardiographic examination, and it did not appear to directly cause any cardiac dysfunction.

scholarly journals Holt–Oram Syndrome Associated with Complex Congenital Heart Disease: A Rare Case Presentation and Literature Review

2020 ◽  
Vol 8 (C) ◽  
pp. 36-40
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Arlinda Maloku ◽  
Aferdita Mustafa ◽  
Rinor Bejiqi
Keyword(s):  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Tricuspid Valve ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Carpal Bone ◽  
Complex Congenital Heart Disease ◽  
Heart Malformation ◽  
Life Threatening

BACKGROUND: First described by Holt and Oram in 1960 in a four-generation family with atrial septal defects and thumb abnormalities, is an inherited disorder characterized by abnormalities of the upper limbs and heart. This syndrome is characterized by upper extremity malformations involving radial, thenar, or carpal bones. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. About 75% of individuals with Holt–Oram syndrome (HOS) have a congenital heart malformation which may include an atrial or ventricular septal defect or heart block. In rare cases, the syndrome can affect other organs and systems which can be life threatening. CASE REPORT: Here, we present a newborn with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized brachydactyly, limited bilateral supination due to radioulnar synostosis, and associated with complex heart disease and hypoplastic tricuspid valve. CONCLUSION: In our case HOS is associated with complex congenital heart defects including atrial septal defect, ventricular septal defect with hypoplastic tricuspid valve. Based on the listed literature we didn’t find any other case where tricuspid valve was affected.

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