Chance and Ventricular Septal Defect

PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 931-932
Author(s):  
THOMAS B. NEWMAN
Keyword(s):  
Ventricular Septal Defect ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Large Element ◽  
Genetic Syndromes ◽  
Multifactorial Inheritance ◽  
The Past

In Reply.— I expected that Dr Nora might respond to my paper, and I appreciate the opportunity to address his thoughtful comments. Dr Nora and I are in agreement on several points: that there is a large element of chance in the etiology of congenital heart defects, that the "rough approximations" for multifactorial inheritance he used in the past are wrong and should be abandoned, that continued vigilance is essential to identify new teratogens and genetic syndromes, and that parents should not feel guilty about congenital heart defects in their offspring.

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 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.

Chance and Ventricular Septal Defect

PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 930-931
Author(s):  
JAMES J. NORA
Keyword(s):  
Ventricular Septal Defect ◽  
Congenital Heart Defect ◽  
Genetic Predisposition ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Large Element ◽  
Congenital Heart Diseases ◽  
Multifactorial Inheritance ◽  
New Hypothesis

To the Editor.— Newman1 has restated the multifactorial inheritance hypothesis of the etiology of congenital heart diseases to emphasize the element of chance (which is, of course, inherent in the hypothesis) and proposes what he considers to be a new hypothesis. There is, of course, a very large element of chance in multifactorial inheritance for an individual with a genetic predisposition to ventricular septal defect or other congenital heart defect also to have a genetic predisposition to an environmental teratogen and finally to have these two predispositions triggered during the very short vulnerable period of cardiogenesis (approximately 1 month or less in duration for most lesions).

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

2012 ◽  
Vol 23 (1) ◽  
pp. 89-98 ◽  
Author(s):  
Karen E. Christensen ◽  
Yassamin Feroz Zada ◽  
Charles V. Rohlicek ◽  
Gregor U. Andelfinger ◽  
Jacques L. Michaud ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Ventricular Septal Defect ◽  
Aortic Valve Stenosis ◽  
Congenital Heart Defects ◽  
Odds Ratio ◽  
Multiple Testing ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Folate Metabolism

AbstractGenetic disturbances in folate metabolism may increase risk for congenital heart defects. We examined the association of heart defects with four polymorphisms in folate-related genes (methylenetetrahydrofolate reductase (MTHFR) c.677C > T, MTHFR c.1298A > C, methionine synthase reductase (MTRR) c.66A > G, and reduced folate carrier (SLC19A1) c.80A > G) in a case–control study of children (156 patients, 69 controls) and mothers of children with heart defects (181 patients, 65 controls), born before folic acid fortification. MTRR c.66A > G in children modified odds ratios for overall heart defects, specifically ventricular septal defect and aortic valve stenosis (p-value below 0.05). The 66GG and AG genotypes were associated with decreased odds ratios for heart defects (0.42, 95% confidence interval (0.18–0.97) and 0.39 (0.18–0.84), respectively). This overall association was driven by decreased risk for ventricular septal defect for 66GG and AG (odds ratio 0.32 (0.11–0.91) and 0.25 (0.09–0.65)) and decreased odds ratio for aortic valve stenosis for 66AG (0.27 (0.09–0.79)). The association of ventricular septal defect and 66AG remained significant after correction for multiple testing (p = 0.0044, multiple testing threshold p = 0.0125). Maternal MTHFR 1298AC genotype was associated with increased odds ratio for aortic valve stenosis (2.90 (1.22–6.86), p = 0.0157), but this association did not meet the higher multiple testing threshold. No association between MTHFR c.677C > T or SLC19A1 c.80A > G and heart defect risk was found. The influence of folate-related polymorphisms may be specific to certain types of heart defects; larger cohorts of mothers and children with distinct sub-classes are required to adequately address risk.

scholarly journals Pattern of Congenital Heart Defects in 22q11 Microdeletion Syndrome in India – A Tertiary Care Cardiac Hospital Based Study

2016 ◽  
Vol 1 ◽  
Author(s):  
Viralam S Kiran ◽  
Yash S Shrivastava ◽  
Siddaramappa J Patil ◽  
Sejal S Shah
Keyword(s):  
Ventricular Septal Defect ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Tertiary Care ◽  
In Situ Hybridisation ◽  
Pulmonary Vein Stenosis ◽  
Microdeletion Syndrome ◽  
22Q11.2 Microdeletion

<p><em>Background</em>: To investigate pattern of Congenital Heart Defects in 22q11 microdeletion syndrome.</p><p><em>Methods</em>: A retrospective study from year 2006 to 2015 of children with 22q11 microdeletion and pattern of Congenital Heart Defects.</p><p><em>Results</em>: Ninety-Six children with Fluorescent in-situ Hybridisation positive for 22q11.2 microdeletion and Congenital Heart Defects were identified. Out of these 96, the most common Congenital Heart Defect variants were Tetralogy of Fallot (39.58%), Pulmonary Atresia with Ventricular Septal Defect (29.16%), and isolated Ventricular Septal Defect (10.4%). Conotruncal defects constituted majority (82%) followed by Ventricular Septal Defects. Two rare associations were: one child with mitral valve prolapse &amp; another with left pulmonary vein stenosis.</p><p><em>Conclusion</em>: 22q11.2 microdeletion syndrome is commonly associated with Congenital Heart Defects. Among children with Congenital Heart Defects and 22q11.2 microdeletion, conotruncal malformations were the most common defects followed by Ventricular Septal Defect.</p>

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