Materiały źródłowe

• #1 Ventricular Septal Defect (VSD) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/ventricular-septal-defect-vsd

  A ventricular septal defect (VSD) is an opening in the interventricular septum, causing a shunt between ventricles. […] Ventricular septal defect is the 2nd most common congenital heart anomaly after bicuspid aortic valve, accounting for 20% of all defects. […] Malalignment type ventricular septal defects are characterized by displacement of the conal or outlet septum. […] The magnitude of the shunt depends on defect size and downstream resistance (ie, pulmonary outflow tract obstruction and pulmonary vascular resistance). […] In nonrestrictive ventricular septal defects, pressure equalizes between the right and left ventricles and there is a large left-to-right shunt. […] Over time, large left-to-right shunts cause pulmonary artery hypertension, elevated pulmonary artery vascular resistance, right ventricular pressure overload, and right ventricular hypertrophy and ultimately cause shunt direction to reverse, leading to Eisenmenger syndrome.

• #2 Clinical manifestations and diagnosis of ventricular septal defect in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ventricular-septal-defect-in-adults

  Ventricular septal defect (VSD) is one of the most common congenital heart defects (second only to bicuspid aortic valve) at birth, but accounts for only 10 percent of congenital heart defects in adults because many close spontaneously. […] Heterogeneous genetic and environmental factors contribute to congenital VSDs, and for most congenital VSDs the cause is unknown. About 5 percent of patients with VSDs have chromosomal abnormalities including trisomy 13, 18, and 21 syndromes. DNA sequence variants within the GATA4, GATA6, CITED2, NKX2-5, HAND1, TBX2, and TBX18 genes may also be involved in VSD genesis. The discovery of SMAD3, a key intracellular messenger regulating TGF beta signaling, may explain the ascending aorta enlargement (particularly at the sinus of Valsalva) seen in some patients with VSD.

• #3 Ventricular septal defect (VSD) – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ventricular-septal-defect/symptoms-causes/syc-20353495

  A ventricular septal defect (VSD) occurs as the baby’s heart is developing during pregnancy. The muscular wall separating the heart into left and right sides doesn’t form fully, leaving one or more holes. The size of the hole or holes can vary. […] There’s often no clear cause. Genetics and environmental factors may play a role. VSDs can occur alone or with other heart problems present at birth. Rarely, a ventricular septal defect can occur later in life after a heart attack or certain heart procedures.

• #4 Ventricular Septal Defect (VSD): Types & Causes

  https://my.clevelandclinic.org/health/diseases/17615-ventricular-septal-defects-vsd

  A ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers of your heart. […] A VSD from an incomplete wall can allow oxygen-rich blood from one side of the heart to mix with oxygen-poor blood from the other. […] This condition is the most common kind of congenital heart disease (present at birth). It often happens along with other types of heart problems. […] A VSD heart defect is slightly more likely to happen in premature babies and babies with certain genetic conditions. Taking anti-seizure medications (valproic acid and phenytoin) or drinking beverages containing alcohol during pregnancy may also increase the risk of a VSD. But itll take more research to confirm if these are definite causes. […] A ventricular septal defect doesnt currently have any known causes. But it does sometimes happen along with other issues present at birth, like heart defects, heart conditions or genetic disorders like Down syndrome. […] In very rare cases, a heart attack can tear a hole between the ventricles and create a VSD. This type of ventricular septal defect or rupture is technically a side effect. But its still a dangerous problem that needs to be repaired.

• #5 Ventricular Septal Defect (VSD): Types & Causes

  https://my.clevelandclinic.org/health/diseases/17615-ventricular-septal-defects-vsd

  A ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers of your heart. […] A VSD from an incomplete wall can allow oxygen-rich blood from one side of the heart to mix with oxygen-poor blood from the other. […] This condition is the most common kind of congenital heart disease (present at birth). It often happens along with other types of heart problems. […] A VSD heart defect is slightly more likely to happen in premature babies and babies with certain genetic conditions. Taking anti-seizure medications (valproic acid and phenytoin) or drinking beverages containing alcohol during pregnancy may also increase the risk of a VSD. But itll take more research to confirm if these are definite causes. […] A ventricular septal defect doesnt currently have any known causes. But it does sometimes happen along with other issues present at birth, like heart defects, heart conditions or genetic disorders like Down syndrome. […] In very rare cases, a heart attack can tear a hole between the ventricles and create a VSD. This type of ventricular septal defect or rupture is technically a side effect. But its still a dangerous problem that needs to be repaired.

• #6

  https://www.pted.org/?id=ventricularseptal4

  Ventricular Septal Defect (VSD) is a common congenital heart defect that may occur by itself or in association with other anomalies. […] A VSD is a hole in the muscle wall between the two ventricles that allows the movement (shunting) of blood from one ventricle into the other. […] The left to right shunting of blood through the VSD causes increased blood pressure in the right ventricle and heavy pulmonary blood flow. […] Small ventricular septal defects, which did not close spontaneously in childhood, result in a distinctive heart murmur. […] Accordingly, it is important that larger VSDs are diagnosed and closed surgically as early in life as possible. […] Small VSDs that remain open may cause difficulties as a patient ages.

• #7 Ventricular Septal Defect (VSD) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/ventricular-septal-defect-vsd

  A ventricular septal defect (VSD) is an opening in the interventricular septum, causing a shunt between ventricles. […] Ventricular septal defect is the 2nd most common congenital heart anomaly after bicuspid aortic valve, accounting for 20% of all defects. […] Malalignment type ventricular septal defects are characterized by displacement of the conal or outlet septum. […] The magnitude of the shunt depends on defect size and downstream resistance (ie, pulmonary outflow tract obstruction and pulmonary vascular resistance). […] In nonrestrictive ventricular septal defects, pressure equalizes between the right and left ventricles and there is a large left-to-right shunt. […] Over time, large left-to-right shunts cause pulmonary artery hypertension, elevated pulmonary artery vascular resistance, right ventricular pressure overload, and right ventricular hypertrophy and ultimately cause shunt direction to reverse, leading to Eisenmenger syndrome.

• #8 Ventricular Septal Defect (VSD) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/vsd.html

  A ventricular septal defect (VSD) sometimes referred to as a hole in the heart is a type of congenital heart defect. […] Ventricular septal (ven-TRIK-yu-lar SEP-tul) defects happen as a baby’s heart develops before birth. The heart develops from a large tube, dividing into sections that will eventually become the walls and chambers. If there’s a problem during this process, a hole can form in the ventricular septum. […] In some cases, the tendency to develop a VSD may be due to genetic syndromes that cause extra or missing pieces of chromosomes. Most VSDs, though, have no clear cause.

• #9 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Congenital heart disease (CHD) occurs when something disrupts the normal development of the heart. Genetic and or environmental risks can influence the incidence of CHD. Most cases of CHD have their beginnings in weeks 4-8 of pregnancy (NHS. n.d.) when endothelial tube that develops and acquires the shape and structures of the chambered heart (RnCeus n.d.). […] Congenital septal defects, whether atrial or ventricular, result from abnormal growth and incomplete development of the atrial septum that divides the upper chamber into right and left atrial chamber or the interventricular septum dividing the lower chamber into right and left ventricles. […] Genetic risk VSD factors include: VSD occurs more frequently in males than females. Familial history of congenital heart disease. Down syndrome (trisome syndromes). VSD may occur in association with a variety of other rare genetic disorders including Holt-Oram Syndrome, FG Syndrome, Genitopalatocardiac Syndrome, Fryns Syndrome, certain forms of Dandy-Walker Syndrome, Cardiomyopathy-Hypogonadism-Collagenoma Syndrome, Familial Idiopathic Cardiomyopathy, Simpson Dysmorphia Syndrome, and Velocardiofacial Syndrome (NORD (n.d.)).

• #10 Ventricular Septal Defect (VSD) | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/vsd

  Ventricular septal (ven-TRIK-yu-lar SEP-tul) defects happen as a baby’s heart develops before birth. The heart develops from a large tube, dividing into sections that will eventually become the walls and chambers. If there’s a problem during this process, a hole can form in the ventricular septum. […] In some cases, the tendency to develop a VSD may be due to genetic syndromes that cause extra or missing pieces of chromosomes. Most VSDs, though, have no clear cause.

• #11 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Environmental factors include: Maternal diabetes or phenylketonuria. Exposure to disease or teratogens within in the first 8 weeks of gestation. Maternal smoking and alcohol use effects on VSD prevalence is inconclusive. Parent/family education should include the complexity of cardiac development and medical sciences’s limited ability to ascertain causality. […] A VSD may result if cells from ventricle, endocardial cushions or truncus arteriosus fail to grow, organize or fuse to the appropriate structures. For example an intact membranous septum requires growth and fusion of tissues derived from the endocardial cushions, the conotruncal ridges and muscular septum. Errors in the growth rate, orientation or fusion of any of these tissues can result in VSD. […] The first division is accomplished by the endocardial cushions. The endocardial cushions begin the separation of the heart into right and left, upper and lower chambers. These chambers will become the atria and ventricles. While the endocardial cushions continue to develop, the atrial and ventricular septa begin to form.

• #12 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  The ventricular septum is composed of thick, trabeculated muscular tissue derived from the walls of the growing ventricles. When this muscular septum is complete, a large opening (the interventricular foramen) still remains between the two ventricles. The interventricular foramen is usually completely closed by week seven. Closure is accomplished by growth of membraneous tissue derived from the endocardial cushions, the interventricular septum and from the conus ridges growing within the truncus. […] The membranous septum derived from tissue growing within the truncus. The truncus begins to divide about 29 days after conception. The division starts with the growth of two ridges that take a spiral path toward the ventricles. The spirals eventually joining with tissue from the interventricular septum and closing the interventricular foramen. This tissue completes the separation of venous from arterial blood flow.

• #13 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Environmental factors include: Maternal diabetes or phenylketonuria. Exposure to disease or teratogens within in the first 8 weeks of gestation. Maternal smoking and alcohol use effects on VSD prevalence is inconclusive. Parent/family education should include the complexity of cardiac development and medical sciences’s limited ability to ascertain causality. […] A VSD may result if cells from ventricle, endocardial cushions or truncus arteriosus fail to grow, organize or fuse to the appropriate structures. For example an intact membranous septum requires growth and fusion of tissues derived from the endocardial cushions, the conotruncal ridges and muscular septum. Errors in the growth rate, orientation or fusion of any of these tissues can result in VSD. […] The first division is accomplished by the endocardial cushions. The endocardial cushions begin the separation of the heart into right and left, upper and lower chambers. These chambers will become the atria and ventricles. While the endocardial cushions continue to develop, the atrial and ventricular septa begin to form.

• #14 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  The ventricular septum is composed of thick, trabeculated muscular tissue derived from the walls of the growing ventricles. When this muscular septum is complete, a large opening (the interventricular foramen) still remains between the two ventricles. The interventricular foramen is usually completely closed by week seven. Closure is accomplished by growth of membraneous tissue derived from the endocardial cushions, the interventricular septum and from the conus ridges growing within the truncus. […] The membranous septum derived from tissue growing within the truncus. The truncus begins to divide about 29 days after conception. The division starts with the growth of two ridges that take a spiral path toward the ventricles. The spirals eventually joining with tissue from the interventricular septum and closing the interventricular foramen. This tissue completes the separation of venous from arterial blood flow.

• #15 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Environmental factors include: Maternal diabetes or phenylketonuria. Exposure to disease or teratogens within in the first 8 weeks of gestation. Maternal smoking and alcohol use effects on VSD prevalence is inconclusive. Parent/family education should include the complexity of cardiac development and medical sciences’s limited ability to ascertain causality. […] A VSD may result if cells from ventricle, endocardial cushions or truncus arteriosus fail to grow, organize or fuse to the appropriate structures. For example an intact membranous septum requires growth and fusion of tissues derived from the endocardial cushions, the conotruncal ridges and muscular septum. Errors in the growth rate, orientation or fusion of any of these tissues can result in VSD. […] The first division is accomplished by the endocardial cushions. The endocardial cushions begin the separation of the heart into right and left, upper and lower chambers. These chambers will become the atria and ventricles. While the endocardial cushions continue to develop, the atrial and ventricular septa begin to form.

• #16 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.

• #17 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #18 Clinical manifestations and diagnosis of ventricular septal defect in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ventricular-septal-defect-in-adults

  Ventricular septal defect (VSD) is one of the most common congenital heart defects (second only to bicuspid aortic valve) at birth, but accounts for only 10 percent of congenital heart defects in adults because many close spontaneously. […] Heterogeneous genetic and environmental factors contribute to congenital VSDs, and for most congenital VSDs the cause is unknown. About 5 percent of patients with VSDs have chromosomal abnormalities including trisomy 13, 18, and 21 syndromes. DNA sequence variants within the GATA4, GATA6, CITED2, NKX2-5, HAND1, TBX2, and TBX18 genes may also be involved in VSD genesis. The discovery of SMAD3, a key intracellular messenger regulating TGF beta signaling, may explain the ascending aorta enlargement (particularly at the sinus of Valsalva) seen in some patients with VSD.

• #19 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  The incidence of VSD in siblings of patients with the same malformation is about three times that of the general population. VSDs have been reported in identical twins, but the frequency of discordance is high, even in identical twins. […] Familial congenital heart defects are often concordant by phenotype and developmental mechanism. Among cases with VSDs, previous occurrence of transposition, tetralogy of Fallot (TOF), and truncus arteriosus is higher than expected.

• #20 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.

• #21 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  The incidence of VSD in siblings of patients with the same malformation is about three times that of the general population. VSDs have been reported in identical twins, but the frequency of discordance is high, even in identical twins. […] Familial congenital heart defects are often concordant by phenotype and developmental mechanism. Among cases with VSDs, previous occurrence of transposition, tetralogy of Fallot (TOF), and truncus arteriosus is higher than expected.

• #22 Understanding Ventricular Septal Defect: Causes, Symptoms, and Management – Longmore Clinic

  https://longmoreclinic.org/understanding-ventricular-septal-defect-causes-symptoms-and-management/

  Ventricular septal defects occur during fetal heart development, usually within the first eight weeks of pregnancy. The exact cause is often unknown, but several factors may contribute to the development of VSD: […] Genetic factors: Family history of congenital heart defects increases the risk of VSD. […] Environmental factors: Exposure to certain chemicals or infections during pregnancy may increase the risk. […] Maternal conditions: Pre-existing conditions like diabetes, obesity, or poorly controlled blood pressure during pregnancy may contribute to the risk.

• #23 Clinical manifestations and diagnosis of ventricular septal defect in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ventricular-septal-defect-in-adults

  Ventricular septal defect (VSD) is one of the most common congenital heart defects (second only to bicuspid aortic valve) at birth, but accounts for only 10 percent of congenital heart defects in adults because many close spontaneously. […] Heterogeneous genetic and environmental factors contribute to congenital VSDs, and for most congenital VSDs the cause is unknown. About 5 percent of patients with VSDs have chromosomal abnormalities including trisomy 13, 18, and 21 syndromes. DNA sequence variants within the GATA4, GATA6, CITED2, NKX2-5, HAND1, TBX2, and TBX18 genes may also be involved in VSD genesis. The discovery of SMAD3, a key intracellular messenger regulating TGF beta signaling, may explain the ascending aorta enlargement (particularly at the sinus of Valsalva) seen in some patients with VSD.

• #24 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Congenital heart disease (CHD) occurs when something disrupts the normal development of the heart. Genetic and or environmental risks can influence the incidence of CHD. Most cases of CHD have their beginnings in weeks 4-8 of pregnancy (NHS. n.d.) when endothelial tube that develops and acquires the shape and structures of the chambered heart (RnCeus n.d.). […] Congenital septal defects, whether atrial or ventricular, result from abnormal growth and incomplete development of the atrial septum that divides the upper chamber into right and left atrial chamber or the interventricular septum dividing the lower chamber into right and left ventricles. […] Genetic risk VSD factors include: VSD occurs more frequently in males than females. Familial history of congenital heart disease. Down syndrome (trisome syndromes). VSD may occur in association with a variety of other rare genetic disorders including Holt-Oram Syndrome, FG Syndrome, Genitopalatocardiac Syndrome, Fryns Syndrome, certain forms of Dandy-Walker Syndrome, Cardiomyopathy-Hypogonadism-Collagenoma Syndrome, Familial Idiopathic Cardiomyopathy, Simpson Dysmorphia Syndrome, and Velocardiofacial Syndrome (NORD (n.d.)).

• #25 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Congenital heart disease (CHD) occurs when something disrupts the normal development of the heart. Genetic and or environmental risks can influence the incidence of CHD. Most cases of CHD have their beginnings in weeks 4-8 of pregnancy (NHS. n.d.) when endothelial tube that develops and acquires the shape and structures of the chambered heart (RnCeus n.d.). […] Congenital septal defects, whether atrial or ventricular, result from abnormal growth and incomplete development of the atrial septum that divides the upper chamber into right and left atrial chamber or the interventricular septum dividing the lower chamber into right and left ventricles. […] Genetic risk VSD factors include: VSD occurs more frequently in males than females. Familial history of congenital heart disease. Down syndrome (trisome syndromes). VSD may occur in association with a variety of other rare genetic disorders including Holt-Oram Syndrome, FG Syndrome, Genitopalatocardiac Syndrome, Fryns Syndrome, certain forms of Dandy-Walker Syndrome, Cardiomyopathy-Hypogonadism-Collagenoma Syndrome, Familial Idiopathic Cardiomyopathy, Simpson Dysmorphia Syndrome, and Velocardiofacial Syndrome (NORD (n.d.)).

• #26 Clinical manifestations and diagnosis of ventricular septal defect in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ventricular-septal-defect-in-adults

  Ventricular septal defect (VSD) is one of the most common congenital heart defects (second only to bicuspid aortic valve) at birth, but accounts for only 10 percent of congenital heart defects in adults because many close spontaneously. […] Heterogeneous genetic and environmental factors contribute to congenital VSDs, and for most congenital VSDs the cause is unknown. About 5 percent of patients with VSDs have chromosomal abnormalities including trisomy 13, 18, and 21 syndromes. DNA sequence variants within the GATA4, GATA6, CITED2, NKX2-5, HAND1, TBX2, and TBX18 genes may also be involved in VSD genesis. The discovery of SMAD3, a key intracellular messenger regulating TGF beta signaling, may explain the ascending aorta enlargement (particularly at the sinus of Valsalva) seen in some patients with VSD.

• #27 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  The incidence of VSD in siblings of patients with the same malformation is about three times that of the general population. VSDs have been reported in identical twins, but the frequency of discordance is high, even in identical twins. […] Familial congenital heart defects are often concordant by phenotype and developmental mechanism. Among cases with VSDs, previous occurrence of transposition, tetralogy of Fallot (TOF), and truncus arteriosus is higher than expected.

• #28 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #29 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #30 Understanding Ventricular Septal Defect: Causes, Symptoms, and Management – Longmore Clinic

  https://longmoreclinic.org/understanding-ventricular-septal-defect-causes-symptoms-and-management/

  Ventricular septal defects occur during fetal heart development, usually within the first eight weeks of pregnancy. The exact cause is often unknown, but several factors may contribute to the development of VSD: […] Genetic factors: Family history of congenital heart defects increases the risk of VSD. […] Environmental factors: Exposure to certain chemicals or infections during pregnancy may increase the risk. […] Maternal conditions: Pre-existing conditions like diabetes, obesity, or poorly controlled blood pressure during pregnancy may contribute to the risk.

• #31 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #32 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.

• #33 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #34 Untitled Document

  https://www.rnceus.com/vsd/etiology22.html

  Environmental factors include: Maternal diabetes or phenylketonuria. Exposure to disease or teratogens within in the first 8 weeks of gestation. Maternal smoking and alcohol use effects on VSD prevalence is inconclusive. Parent/family education should include the complexity of cardiac development and medical sciences’s limited ability to ascertain causality. […] A VSD may result if cells from ventricle, endocardial cushions or truncus arteriosus fail to grow, organize or fuse to the appropriate structures. For example an intact membranous septum requires growth and fusion of tissues derived from the endocardial cushions, the conotruncal ridges and muscular septum. Errors in the growth rate, orientation or fusion of any of these tissues can result in VSD. […] The first division is accomplished by the endocardial cushions. The endocardial cushions begin the separation of the heart into right and left, upper and lower chambers. These chambers will become the atria and ventricles. While the endocardial cushions continue to develop, the atrial and ventricular septa begin to form.

• #35 Ventricular Septal Defect – Management – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/ventricular-septal-defect/

  Ventricular Septal Defect (VSD) is the most common congenital heart defect (CHD) (1). VSD is defined as a condition where there is a hole in the septum separating the left and right ventricles. It can occur as an isolated lesion or alongside other CHDs. […] VSD occurs in approximately 50% of all children with a CHD and in 20% as an isolated lesion (3). The prevalence of an isolated VSD is, on average, 4.2 per 1000 births (4). Studies show that the prevalence of VSD has increased significantly in recent decades, shown to be primarily due to improved diagnosis. […] Though there is no definitive cause of why some babies are born with VSDs, certain biological and environmental factors are known to increase risk: Maternal Diabetes Mellitus = If uncontrolled during pregnancy, this can increase the risk of the baby developing VSD and other congenital heart diseases. Maternal Rubella infection during pregnancy= Most people in the UK are protected against this through the MMR vaccine. Alcohol (Foetal alcohol syndrome) = Cardiac abnormalities occur in 15-40% of affected infants (6). Uncontrolled maternal phenylketonuria (PKU) during pregnancy. A family history of VSD is associated with increased risk of VSD. Other congenital conditions have been shown to be related to the development of VSD.

• #36 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #37 What is an inlet ventricular septal defect?

  https://www.medicalnewstoday.com/articles/inlet-ventricular-septal-defect

  VSDs happen when a developmental problem occurs while the heart is forming inside an embryo. Medical professionals do not fully understand what causes VSDs, but genetic factors may play a role in their development. […] Some non-genetic risk factors may contribute to the development of VSDs. These may include: maternal infections while the embryo is in the womb, such as: rubella, influenza, febrile illnesses; maternal diabetes; phenylketonuria, an inherited inability to metabolize phenylalanine; embryonic exposure to: alcohol, cannabis, cocaine.

• #38 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #39 What is an inlet ventricular septal defect?

  https://www.medicalnewstoday.com/articles/inlet-ventricular-septal-defect

  VSDs happen when a developmental problem occurs while the heart is forming inside an embryo. Medical professionals do not fully understand what causes VSDs, but genetic factors may play a role in their development. […] Some non-genetic risk factors may contribute to the development of VSDs. These may include: maternal infections while the embryo is in the womb, such as: rubella, influenza, febrile illnesses; maternal diabetes; phenylketonuria, an inherited inability to metabolize phenylalanine; embryonic exposure to: alcohol, cannabis, cocaine.

• #40 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #41 Ventricular septal defect: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001099.htm

  Ventricular septal defect is a hole in the wall that separates the right and left ventricles of the heart. Ventricular septal defect is one of the most common congenital (present from birth) heart defects. It occurs in nearly half of all children with congenital heart disease. It may occur by itself or with other congenital diseases. […] The cause of VSD is not yet known. This defect often occurs along with other congenital heart defects. […] Except for a VSD that is caused by a heart attack, this condition is always present at birth. […] Drinking alcohol and using the antiseizure medicines valproic acid (Depakote) and phenytoin (Dilantin) during pregnancy may increase the risk for VSDs. Other than avoiding these things during pregnancy, there is no known way to prevent a VSD.

• #42 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #43 Ventricular septal defect: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001099.htm

  Ventricular septal defect is a hole in the wall that separates the right and left ventricles of the heart. Ventricular septal defect is one of the most common congenital (present from birth) heart defects. It occurs in nearly half of all children with congenital heart disease. It may occur by itself or with other congenital diseases. […] The cause of VSD is not yet known. This defect often occurs along with other congenital heart defects. […] Except for a VSD that is caused by a heart attack, this condition is always present at birth. […] Drinking alcohol and using the antiseizure medicines valproic acid (Depakote) and phenytoin (Dilantin) during pregnancy may increase the risk for VSDs. Other than avoiding these things during pregnancy, there is no known way to prevent a VSD.

• #44

• #45 Muscular Ventricular Septal Defect: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/899873-overview

  Muscular ventricular septal defects (VSDs) have a multifactorial etiology and are predominantly the result of spontaneous abnormalities in development. [5] No correlation with maternal age or birth order is observed. […] VSD is the most common congenital heart lesion in most chromosomal anomalies and syndromes. VSD is especially common in patients with trisomy 13, trisomy 18, and trisomy 21. In addition, there are numerous single-gene deletion syndromes associated with VSDs. However, the majority of VSDs (95%) are not associated with chromosomal abnormalities. [6] […] Noncardiac conditions associated with VSD include prematurity, syndromes, and chromosomal anomalies. Regular maternal cannabis slightly increases the incidence of VSD, as does the use of selective serotonin reuptake inhibitors (SSRIs) during early pregnancy. [7, 8]

• #46 Ventricular septal defect (VSD) – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ventricular-septal-defect/symptoms-causes/syc-20353495

  A ventricular septal defect (VSD) occurs as the baby’s heart is developing during pregnancy. The muscular wall separating the heart into left and right sides doesn’t form fully, leaving one or more holes. The size of the hole or holes can vary. […] There’s often no clear cause. Genetics and environmental factors may play a role. VSDs can occur alone or with other heart problems present at birth. Rarely, a ventricular septal defect can occur later in life after a heart attack or certain heart procedures.

• #47 Ventricular Septal Defect (VSD): Types & Causes

  https://my.clevelandclinic.org/health/diseases/17615-ventricular-septal-defects-vsd

  A ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers of your heart. […] A VSD from an incomplete wall can allow oxygen-rich blood from one side of the heart to mix with oxygen-poor blood from the other. […] This condition is the most common kind of congenital heart disease (present at birth). It often happens along with other types of heart problems. […] A VSD heart defect is slightly more likely to happen in premature babies and babies with certain genetic conditions. Taking anti-seizure medications (valproic acid and phenytoin) or drinking beverages containing alcohol during pregnancy may also increase the risk of a VSD. But itll take more research to confirm if these are definite causes. […] A ventricular septal defect doesnt currently have any known causes. But it does sometimes happen along with other issues present at birth, like heart defects, heart conditions or genetic disorders like Down syndrome. […] In very rare cases, a heart attack can tear a hole between the ventricles and create a VSD. This type of ventricular septal defect or rupture is technically a side effect. But its still a dangerous problem that needs to be repaired.

• #48 Ventricular septal defect (VSD) – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ventricular-septal-defect/symptoms-causes/syc-20353495

  A ventricular septal defect (VSD) occurs as the baby’s heart is developing during pregnancy. The muscular wall separating the heart into left and right sides doesn’t form fully, leaving one or more holes. The size of the hole or holes can vary. […] There’s often no clear cause. Genetics and environmental factors may play a role. VSDs can occur alone or with other heart problems present at birth. Rarely, a ventricular septal defect can occur later in life after a heart attack or certain heart procedures.

• #49 Ventricular septal defect – Wikipedia

  https://en.wikipedia.org/wiki/Ventricular_septal_defect

  A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. […] A congenital VSD can result from a disturbance in the morphogenesis of the heart in its embryonic stages. […] A ventricular septal defect arises when the superior part of the interventricular septum, which separates the right and left ventricles of the heart, fails to fully develop. […] Congenital VSDs are frequently associated with other congenital conditions, such as Down syndrome. […] A VSD can also form a few days after a myocardial infarction (heart attack) due to mechanical tearing of the septal wall, before scar tissue forms, when macrophages start remodeling the dead heart tissue.

• #50 Ventricular Septal Defects: Causes, Risk Factors & Treatments

  https://www.healthline.com/health/ventricular-septal-defect

  According to the National Institutes of Health, VSDs are one of the most common congenital birth defects. […] The most common cause of a VSD is a congenital heart defect, which is a defect from birth. Some people are born with holes already present in their heart. They may cause no symptoms and take years to diagnose. […] A rare cause of a VSD is severe blunt trauma to the chest. For example, a serious car accident with direct, forceful, or repeated trauma to the chest may cause a VSD.

• #51 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #52 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #53 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #54 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #55 Ventricular Septal Defect: Causes and Symptoms

  https://www.massgeneral.org/children/ventricular-septal-defect

  In most cases, VSDs happen at random. It is not anyones fault. It is not caused by anything you or your partner did during pregnancy. […] Some VSDs are found in people with certain genetic syndromes. In some cases, VSD can be passed down through families.

• #56 Ventricular Septal Defects: Background, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/892980-overview

  For the purposes of etiologic analysis, clustering the defect types mentioned earlier (see Anatomy) according to potential pathogenic mechanisms is beneficial. The following pathologic classification allows comparison of similar defects: […] At present, a multifactorial etiology based on an interaction between hereditary predisposition and environmental influences is assumed to cause the defects. […] Maternal diabetes has long been recognized as a risk factor for congenital cardiovascular malformations (CCVMs). The risk of CCVMs remains high for infants of women with poorly controlled elevated phenylalanine levels. […] The single largest determinant in the BWIS data set is the presence of a genetic risk factor defined as a previous occurrence of a congenital cardiovascular defect in the family. A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor.

• #57 Ventricular Septal Defect (VSD) – Pediatric Heart Specialists

  https://pediatricheartspecialists.com/heart-education/15-congenital-heart-defects/190-ventricular-septal-defect-vsd?highlight=WyJ2c2QiLCJ2c2QncyJd

  A ventricular septal defect (VSD) is a hole in the ventricular septum, the lower wall of the heart separating the right and left ventricles. A VSD is a congenital heart defect, in other words, a birth defect of the heart. A VSD is the most common congenital heart defect; the overall incidence is 3-4 per 1000. […] The most common type, termed a muscular VSD, is formed when the muscle of the wall fails to completely seal. Less common types of VSDs include membranous, inlet and outlet types. These types of VSD’s are often larger and may cause more problems for an infant or child. […] A large VSD allows for a significant degree of blood flow to the lungs; a small VSD often results in a negligible increase. […] VSDs may also predispose to an increased risk of lung infections such as pneumonia.

• #58 Ventricular Septal Defect (VSD) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/ventricular-septal-defect-vsd

  A ventricular septal defect (VSD) is an opening in the interventricular septum, causing a shunt between ventricles. […] Ventricular septal defect is the 2nd most common congenital heart anomaly after bicuspid aortic valve, accounting for 20% of all defects. […] Malalignment type ventricular septal defects are characterized by displacement of the conal or outlet septum. […] The magnitude of the shunt depends on defect size and downstream resistance (ie, pulmonary outflow tract obstruction and pulmonary vascular resistance). […] In nonrestrictive ventricular septal defects, pressure equalizes between the right and left ventricles and there is a large left-to-right shunt. […] Over time, large left-to-right shunts cause pulmonary artery hypertension, elevated pulmonary artery vascular resistance, right ventricular pressure overload, and right ventricular hypertrophy and ultimately cause shunt direction to reverse, leading to Eisenmenger syndrome.

• #59 Muscular Ventricular Septal Defect: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/899873-overview

  The precise etiology of muscular septal defect formation is unknown. However, the proposed mechanisms are many. Muscular defects may occur because of a lack of merging in the walls of the trabecular septum or because of excessive resorption of muscular tissue during ventricular growth and remodeling.

• #60 Ventricular Septal Defect

  https://www.webmd.com/heart-disease/ventricular-septal-defect

  Ventricular septal defect is a hole in the wall between the right and left ventricles of the heart. This abnormality usually develops before birth and is found most often in infants. […] No one knows what causes ventricular septal defects, but they probably come from a malformation of the heart that occurs while the infant is developing in the womb. […] The most common type of ventricular septal defect is the membranous variant. In this type, the hole is located below the aortic valve, which controls flow of blood from the left ventricle into the main artery of the body, the aorta.

• #61 Ventricular Septal Defect – Management – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/ventricular-septal-defect/

  The size of the defect is the main determinant of the haemodynamic consequences of the VSD: Very small VSD, also called restrictive VSD: The flow of blood through the VSD is minimal, so there is no significant increase in pulmonary blood flow. These patients tend to be asymptomatic. Moderate sized VSD: The flow of blood through the VSD is great enough to cause a significant increase in blood flow through the pulmonary circulation. […] Large VSDs: A significant amount of blood is passing from the left to the right ventricle, and so these patients develop early heart failure and severe pulmonary hypertension. Symptoms of cardiac failure are evident after the first weeks of life, when the initially high pulmonary artery pressures drop, allowing more blood to shunt through the defect and into the lungs and thus creating pulmonary plethora.

• #62 Ventricular Septal Defect – Management – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/ventricular-septal-defect/

  The size of the defect is the main determinant of the haemodynamic consequences of the VSD: Very small VSD, also called restrictive VSD: The flow of blood through the VSD is minimal, so there is no significant increase in pulmonary blood flow. These patients tend to be asymptomatic. Moderate sized VSD: The flow of blood through the VSD is great enough to cause a significant increase in blood flow through the pulmonary circulation. […] Large VSDs: A significant amount of blood is passing from the left to the right ventricle, and so these patients develop early heart failure and severe pulmonary hypertension. Symptoms of cardiac failure are evident after the first weeks of life, when the initially high pulmonary artery pressures drop, allowing more blood to shunt through the defect and into the lungs and thus creating pulmonary plethora.

• #63 Ventricular Septal Defect (VSD) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/ventricular-septal-defect-vsd

  A ventricular septal defect (VSD) is an opening in the interventricular septum, causing a shunt between ventricles. […] Ventricular septal defect is the 2nd most common congenital heart anomaly after bicuspid aortic valve, accounting for 20% of all defects. […] Malalignment type ventricular septal defects are characterized by displacement of the conal or outlet septum. […] The magnitude of the shunt depends on defect size and downstream resistance (ie, pulmonary outflow tract obstruction and pulmonary vascular resistance). […] In nonrestrictive ventricular septal defects, pressure equalizes between the right and left ventricles and there is a large left-to-right shunt. […] Over time, large left-to-right shunts cause pulmonary artery hypertension, elevated pulmonary artery vascular resistance, right ventricular pressure overload, and right ventricular hypertrophy and ultimately cause shunt direction to reverse, leading to Eisenmenger syndrome.

• #64 Ventricular Septal Defect – Management – TeachMePaediatrics

  https://teachmepaediatrics.com/cardiology/congenital-heart-defects/ventricular-septal-defect/

  Eisenmengers Syndrome is a condition where the pressure in the right ventricle exceeds that of the left ventricle and is caused by a significant gradual increase in the pulmonary vascular resistance. It results in a shunt reversal, with deoxygenated blood flowing from the right ventricle into the left ventricle and entering the systemic circulation. This causes decreased systemic oxygen saturation and these patients become cyanotic.

• #65 About Ventricular Septal Defect | Congenital Heart Defects (CHDs) | CDC

  https://www.cdc.gov/heart-defects/about/ventricular-septal-defect.html

  A ventricular septal defect (VSD) happens during pregnancy if the wall that forms between the two ventricles does not fully develop. This leaves a hole. […] The causes of ventricular septal defects among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. A combination of genes and other risk factors may increase the risk for ventricular septal defects. These factors can include things in a mother’s environment, what she eats or drinks, or the medicines she uses.

• #66

  https://continentalhospitals.com/diseases/ventricular-septal-defect/

  Ventricular Septal Defect (VSD) is a common congenital heart defect that affects the structure of the heart. […] Understanding the causes of Ventricular Septal Defect (VSD) is crucial in comprehending this common congenital heart defect. […] VSDs can run in families, suggesting a genetic predisposition. Certain genetic syndromes, such as Down syndrome, can also be associated with VSDs. […] Exposure to certain substances during pregnancy, such as alcohol or certain medications, may increase the risk of VSDs in the developing fetus. […] Some maternal health conditions, such as poorly controlled diabetes, can increase the risk of VSDs in the baby. […] VSDs occur during fetal development when the wall between the ventricles doesn’t form correctly. This may be due to a variety of factors, including problems with cell signaling or migration during embryonic development.

• #67 Ventricular Septal Defect (VSD) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/v/vsd

  A ventricular septal defect (VSD) is a hole between the right and left pumping chambers of the heart. […] Ventricular septal defects are among the most common congenital heart defects, occurring in 0.1 to 0.4% of all live births. […] Ventricular septal defects occur in many locations and sizes. […] The location and size of the hole within the septum will determine in part how to treat the ventricular septal defect. […] However, these holes can sometimes be connected to the development of other heart issues. […] Large ventricular septal defects cause symptoms, often developing gradually in the first few months of life. […] Medium or moderate ventricular septal defects are more challenging to predict. […] When a baby is diagnosed with a ventricular septal defect, most cardiologists will not recommend immediate surgery.

• #68 Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470330/

  VSDs result from developmental abnormalities or disruptions in the formation of the interventricular septum during the complex process of embryological heart morphogenesis. […] Recent epidemiological studies have indicated that conditions such as maternal epilepsy (especially when treated with carbamazepine, as shown in animal studies), migraines, chronic hypertension, and paroxysmal supraventricular tachycardia may be associated with an elevated risk of VSDs. […] Maternal infections (such as rubella, influenza, and febrile illness), maternal diabetes, and phenylketonuria have been associated with an increased risk of VSDs. […] Exposure to toxins such as alcohol, marijuana, cocaine, and certain medications, including metronidazole and ibuprofen, is also linked to VSDs. […] A notable Italian study conducted in 2011 by Fesslova et al examined the recurrence of congenital heart disease in pregnant women with a familial predisposition. […] Several genetic factors contribute to VSDs, including chromosomal abnormalities, single-gene mutations, and polygenic inheritance.

• #69 About Ventricular Septal Defect | Congenital Heart Defects (CHDs) | CDC

  https://www.cdc.gov/heart-defects/about/ventricular-septal-defect.html

  A ventricular septal defect (VSD) happens during pregnancy if the wall that forms between the two ventricles does not fully develop. This leaves a hole. […] The causes of ventricular septal defects among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. A combination of genes and other risk factors may increase the risk for ventricular septal defects. These factors can include things in a mother’s environment, what she eats or drinks, or the medicines she uses.

• #70 Etiology of ventricular septal defects: an epidemiologic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/3840586/

  To investigate the recent 150% increase in the reported incidence of ventricular septal defects (VSDs) in the United States, the epidemiology of ventricular septal defects was examined. […] The several known risk factors for VSD, including a family history of congenital heart disease and exposure to certain drugs, infectious agents, and maternal metabolic disturbances, explain few cases. […] The consistency of incidence among individuals with widely differing genes and environments and the frequency of discordance in identical twins suggest that VSDs often occur as random errors in development, at a frequency largely determined by the complexity of normal cardiac morphogenesis. […] This hypothesis has two major implications: many VSDs are not preventable and parents need not feel responsible for VSDs in their children.

• #71

  https://continentalhospitals.com/diseases/ventricular-septal-defect/

  Sometimes VSDs occur in combination with other congenital heart defects, suggesting a complex interplay of factors during fetal development. […] In some cases, the cause of VSD remains unknown. Researchers continue to study the condition to better understand its underlying causes and risk factors.

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