Materiały źródłowe

• #1

  https://www.nhs.uk/conditions/congenital-heart-disease/causes/

  Congenital heart disease is caused when something disrupts the normal development of the heart. […] It’s thought that most cases occur when something affects the heart’s development during the first 6 weeks of pregnancy. […] While some things are known to increase the risk of congenital heart disease, no obvious cause is identified in most cases. […] Several genetic health conditions that a baby inherits from 1 or both parents can cause congenital heart disease. […] Down’s syndrome is the most widely-known genetic condition that can cause congenital heart disease. […] About half of all children with Down’s syndrome have congenital heart disease. […] Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes.

• #1 Children’s Heart | About CHDs | Congenital Heart Defects

  https://www.childrensheartfoundation.org/about-chds/chd-facts.html

  Congenital heart defects (CHDs) are problems present at birth that affect the structure and function of the heart. […] Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions. […] Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. […] Environmental exposures that may be related to risk of having a CHD include the mothers diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking, and some infections also may raise the risk of having a baby with a CHD. […] A babys risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.

• #1 Congenital Heart Defects – Causes and Risk Factors | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/congenital-heart-defects/causes

  Congenital heart defects happen because the heart does not develop normally while the baby is growing in the womb. […] Doctors often do not know why congenital heart defects occur. […] Researchers do know that genetic can sometimes play a role. […] It is common for congenital heart defects to occur because of changes, or mutations, in the childs DNA. […] Rarely, congenital heart defects are caused by particular genes that are inherited from the parents. […] Congenital heart defects are the most common type of birth defect, occurring in about one percent of live births in the United States. […] The risk of having a baby with a congenital heart defect is influenced by many factors including: Family history and genetics. […] The risk is greater if your babys other parent, or another of your children, has a congenital heart defect.

• #1 Congenital heart disease: current knowledge about causes and inheritance – PubMed

  https://pubmed.ncbi.nlm.nih.gov/22860792/

  About 80% of congenital heart disease (CHD) is multifactorial and arises through various combinations of genetic and environmental contributors. […] About 20% of cases can be attributed to chromosomal anomalies, Mendelian syndromes, non-syndromal single gene disorders or teratogens. […] There is limited evidence for the contribution of specific environmental factors to CHD causation. […] However, folic acid supplementation in the pre- and peri-conception period, ensuring rubella vaccination has been completed before pregnancy, and maintaining good glycaemic control in mothers with diabetes may reduce the risk of CHD in infants. […] Recurrence risks vary between different types of non-syndromal CHD with multifactorial inheritance, and can be as high as 10% when two or more siblings are affected. […] Generally, the recurrence risk increases if a parent rather than a sibling is affected, particularly when the affected parent is the mother. […] High-throughput genetic techniques can accelerate gene discovery and improve our ability to provide individualised genetic counselling.

• #1 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788

  There are a number of chromosome problems linked with CHD. […] When a single gene is changed, a number of health problems may occur. When several health problems occur from 1 genetic cause, its called a syndrome. Some of the genetic syndromes that have a higher rate of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld syndrome, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses, Alagille syndrome. […] If a child has been diagnosed with a chromosomal or other genetic problem, talk with a genetic counselor to help determine the risk for heart defects in future children.

• #1 Congenital Heart Disease

  https://fpnotebook.com/CV/Peds/CngntlHrtDs.htm

  Trisomy 18 (95% Incidence of Congenital Heart Disease) […] Trisomy 13 (80-90% incidence Congenital Heart Disease) […] Turner Syndrome (45, XO) […] Marfan Syndrome […] Noonan Syndrome […] Fetal Alcohol Syndrome […] Acquired conditions […] Other […] DiGeorge Syndrome (Catch 22 Syndrome, Velocardiofacial Syndrome) […] VACTERL Association […] CHARGE Syndrome […] Serious causes of CHD account for 25% of the roughly 40,000 cases in the U.S. per year […] Of these serious causes (~10,000 cases/year in U.S.), 25% do not survive beyond first birthday.

• #1 Discovering the causes of congenital heart disease – BHF

  https://www.bhf.org.uk/what-we-do/our-research/research-successes/causes-of-congenital-heart-disease

  Understanding the genetic causes of congenital heart disease could help us understand more about how the condition can be passed on through families, and provide better advice and counselling to high-risk families as well as finding new treatments which one day could prevent the heart developing abnormally. […] 22q11.2DS syndrome (also known as DiGeorge Syndrome) is a condition you are born with, which can cause a varied range of lifelong problems, including heart defects. […] Supported by the BHF, Professor Peter Scambler and his team at the Institute of Child Health in London found in the early 1990s that a small deletion on a specific region of chromosome 22 (called 22q11.2) was the most frequent cause of the condition. […] Thanks to the work to discover the genetic causes of 22q11.2DS syndrome, we now have a genetic diagnostic test, which can be offered to people who have cases of 22q11.2DS syndrome in their family when they are planning to have a child.

• #1 Congenital heart disease: current knowledge about causes and inheritance | The Medical Journal of Australia

  https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance

  About 80% of congenital heart disease (CHD) is multifactorial and arises through various combinations of genetic and environmental contributors. […] About 20% of cases can be attributed to chromosomal anomalies, Mendelian syndromes, non-syndromal single gene disorders or teratogens. […] To date, more than 30 genes have been linked to non-syndromal forms of CHD. […] There is limited evidence for the contribution of specific environmental factors to CHD causation. […] Currently, about 20% of CHD cases can be attributed to known causes such as genetic syndromes and teratogens, but very little is known about the aetiology of most cases (about 80%). […] Chromosomal anomalies can cause CHD through several different mechanisms. […] Chromosomal anomalies account for about 8%10% of presenting cases of CHD.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20250220/Scientists-uncover-hidden-genetic-causes-of-congenital-heart-disease.aspx

  Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. […] „Our research reveals the potential for digenic inheritance-where two genes work together to cause disease-expanding our understanding of the genetic underpinnings of congenital heart disease,” says co-corresponding senior author Yuval Itan, PhD, Associate Professor of Genetics and Genomic Sciences. […] By analyzing trio exome sequencing data from affected and unaffected children in the Pediatric Genomic Consortium (PCGC), the team identified 10 novel gene pairs potentially linked to the development of CHD. […] Our work demonstrates that genetic interactions, rather than single-gene causes alone, could play a significant role in congenital heart disease.

• #1 Hidden genetic causes of congenital heart disease identified | ScienceDaily

  https://www.sciencedaily.com/releases/2025/02/250220122507.htm

  Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. […] „Our research reveals the potential for digenic inheritance — where two genes work together to cause disease — expanding our understanding of the genetic underpinnings of congenital heart disease,” says co-corresponding senior author Yuval Itan, PhD, Associate Professor of Genetics and Genomic Sciences. […] „Our work demonstrates that genetic interactions, rather than single-gene causes alone, could play a significant role in congenital heart disease.” […] „Our findings hold promise for improving genetic diagnoses, offering better risk assessments, and ultimately guiding more personalized treatments for individuals with congenital heart disease.”

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20250220/Scientists-uncover-hidden-genetic-causes-of-congenital-heart-disease.aspx

  The research team used a robust computational method to identify gene pairs that may act together to cause CHD. […] „Our findings hold promise for improving genetic diagnoses, offering better risk assessments, and ultimately guiding more personalized treatments for individuals with congenital heart disease,” says Dr. Kars.

• #1

  https://www.nhs.uk/conditions/congenital-heart-disease/causes/

  If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester (3 months) of pregnancy are at greater risk of having a baby with congenital heart disease than the general population. […] There are several medicines linked to an increased risk of a baby being born with congenital heart disease. […] Pregnant mothers with PKU who don’t do this are more likely to give birth to a baby with congenital heart disease than the general population. […] Women who are exposed to some organic solvents may be more likely to give birth to a baby with congenital heart disease than the general population.

• #1 Congenital Heart Disease: Symptoms, Causes, Diagnosis, Treatment

  https://www.webmd.com/heart-disease/congenital-heart-disease

  „Doctors dont always know why a baby has a congenital heart defect. They tend to run in families, and the chances of having congenital heart defects rises if a parent or any relatives have problems. Other things that make these defects more likely include: […] Problems with genes or chromosomes in the child, such as Down syndrome. With certain gene changes, a babys chances of having a defect can go up by as much as 50%. […] Smoking or alcohol or drug misuse during pregnancy. All can lead to congenital heart defects and other problems with a babys development. Avoid them if youre pregnant. […] Certain medication. Some medicines can make heart and other birth defects more likely if a woman uses them during pregnancy. Among them are the acne medication isotretinoin and anti-seizure drugs that contain valproate.

• #1 Factors Contributing to Congenital Heart Disease

  https://www.cincinnatichildrens.org/health/c/factors-chd

  However, some types of congenital heart defects are known to occur more often when the mother comes in contact with certain substances during the first few weeks of pregnancy, while the baby’s heart is developing. […] Some maternal illnesses and medications taken for these illnesses have been shown to affect the heart’s development. […] Women who have seizure disorders and need to take anti-seizure medications may have a higher risk for having a child with congenital heart disease, as do women who take lithium to treat depression. […] Mothers who have phenylketonuria (PKU) who do not adhere to the special diet necessary to manage the disease during pregnancy have a higher risk of having a child with congenital heart disease. […] Also, women with insulin-dependent diabetes (particularly if the diabetes is not well-controlled) or lupus may have a higher risk of having a child with heart defects.

• #1 Congenital Heart Defects – Causes and Risk Factors | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/congenital-heart-defects/causes

  Smoking during pregnancy or exposure to secondhand smoke. […] Some medicines taken during the first trimester of pregnancy, such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acids for acne treatment. […] Other medical conditions like diabetes, phenylketonuria (a rare, inherited disorder that affects how your body processes a protein called phenylalanine), or a viral infection called rubella.

• #1

  https://www.nhs.uk/conditions/congenital-heart-disease/

  Congenital heart disease is a general term for a range of birth defects that affect the normal way the heart works. […] In most cases, no obvious cause of congenital heart disease is identified. However, some things are known to increase the risk of the condition, including: […] the mother having certain infections, such as rubella, during pregnancy […] the mother taking certain types of medicine during pregnancy, including statins and some acne medicines […] the mother smoking or drinking alcohol during pregnancy […] the mother having poorly controlled type 1 diabetes or type 2 diabetes […] other chromosome defects, where genes may be altered from normal and can be inherited (run in the family). […] Congenital heart disease can occur if any of these chambers or valves doesn’t develop properly while a baby is in the womb.

• #1 Congenital heart defect – Wikipedia

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

  A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. […] The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. […] The cause of congenital heart disease may be genetic, environmental, or a combination of both. […] Genetic mutations, often sporadic, represent the largest known cause of congenital heart defects. […] Known environmental factors include certain infections during pregnancy such as rubella, drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus). […] Congenital heart defects happen more often in twins than in single babies.

• #1 Congenital heart disease | Heart and Stroke Foundation

  https://www.heartandstroke.ca/heart-disease/conditions/congenital-heart-disease

  Congenital heart disease is a heart condition you are born with. […] A congenital heart defect happens when the chambers, walls or valves of your heart or the blood vessels near the heart dont develop normally before birth. […] In many cases, the cause of congenital heart disease is unknown. However, known causes include: exposure of the fetus to maternal illnesses such as diabetes, German measles (rubella), fever illnesses and issues with metabolizing an amino acid during pregnancy (phenylketonuria), smoking, alcohol or recreational drug use during pregnancy, certain therapeutic drugs, such as thalidomide, environmental factors like air pollution, pesticides and extreme heat waves, specific inherited genetic defects and chromosomal abnormalities. […] Diets rich in folic acid, vitamin B2, riboflavin and nicotinamide have been shown to help protect unborn children from congenital heart disease.

• #1 Congenital heart disease: current knowledge about causes and inheritance | The Medical Journal of Australia

  https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance

  About 3%5% of CHD can be attributed to Mendelian syndromes where a single mutation in the DNA results in pathological consequences, following a Mendelian inheritance pattern. […] The proportion of cases falling into this group is still unknown, although it is presumed to be relatively small. […] Environmental factors influencing CHD can be broadly defined as any non-genetic factor with an associated risk of CHD development. […] The best documented maternal risk factor is maternal diabetes, with a reported fivefold increased risk of CHD from pregestational diabetes. […] Despite the inconclusive evidence reported, it seems reasonable to suggest a few basic recommendations aimed at minimising possible CHD risk factors for women who are or intend to become pregnant. […] In a minority of cases, it is possible to provide a precise recurrence risk for CHD, based on known Mendelian inheritance in a family or on risk figures related to a chromosomal anomaly. […] Recurrence risks also vary considerably among different types of CHD. […] Recent advances in technology provide us with the potential to better understand conditions with a genetic component that have not previously been well understood.

• #1 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788

  These things can lead to a higher risk of a mother having a child with CHD: Seizure disorder and the need to take antiseizure medicines, Taking lithium to treat depression, Having phenylketonuria (PKU) and not staying on the special PKU diet during pregnancy, Insulin-dependent diabetes, especially if blood sugar is not well-controlled, Lupus, A connective tissue disorder, A pregnancy from assisted reproductive technology (ART). […] About 1% of all children are born with a congenital heart defect. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect.

• #1 Congenital heart disease | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/congenital-heart-disease

  Sometimes, during fetal development, the heart and blood vessels do not grow properly. […] In 8 out of 10 cases, the cause of heart defects at birth is unknown. […] In around 8 out of 10 cases, the reason for the congenital heart defect is unknown. Some of the known causes of CHD include: […] 20 per cent of cases have a genetic cause. […] A baby affected by certain birth defects, such as Down syndrome, is more likely to have malformations of the heart. […] Illness of the mother during pregnancy (for example, rubella now rare) may increase the risk of congenital heart disorders. […] Medication (over-the-counter or prescription) or illicit drugs taken by the mother during pregnancy may increase the risk of congenital heart disorders. […] A mother who drinks large amounts of alcohol during pregnancy may increase the risk of congenital heart disorders. […] Factors such as unmanaged diabetes and poor nutrition during pregnancy may increase the risk. […] Babies of older women are more likely to have a birth defect than babies of younger women.

• #1 Congenital Heart Disease

  https://fpnotebook.com/CV/Peds/CngntlHrtDs.htm

  Incidence: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.) […] Serious causes requiring surgery in first year of life occur in 25% of cases […] Congenital Heart Defects are the leading congenital cause of death in infants […] Up to 60% of Congenital Heart Disease has a delayed diagnosis […] Ventricular Septal Defects account for 25% of cases […] Secundum-type Atrial Septal Defects (Ostium Secundum) account for 10% of cases […] Maternal Diabetes Mellitus […] Family History of Congenital Heart Disease […] Maternal history: 5-10% CHD risk […] Sibling history: 2-3% CHD risk […] Rubella exposure in first trimester (PDA) […] Residence at high altitude (PDA) […] Systemic Lupus Erythematosus […] Maternal medications and substances […] Trisomy 21 (50% Incidence of Congenital Heart Disease, Endocardial Cushion Defects)

• #1 Congenital Heart Disease – Cardiovascular Pathophysiology for Pre-Clinical Students

  https://pressbooks.lib.vt.edu/cardiovascularpathophysiology/chapter/chapter-6-congenital-heart-disease/

  The most common atrial septal defects arise from: […] Coarctation of the aorta (figure 6.3) is a constriction of the aortic lumen, usually close to the ductus. The cause is unclear, but low flow through the left heart and aorta flow during development may cause the defect (no flow, no grow). […] In Tetralogy of Fallot (ToF) the outflow tract (infundibular) portion of the interventricular septum is displaced. This single defect leads to four defects: […] Although not completely understood, it is thought that failure of the aortic-pulmonary septum to spiral during development results in the great vessels coming off the wrong ventricles […] The underlying issues with TA are 1) mixing of blood from the left (saturated) and right heart (unsaturated), and 2) the common valve can allow regurgitation. […] Complete AV canal defect is a result of complete failure of fusion between endocardial cushions.

• #1

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  Congenital heart disease occurs in 8 children for every 1000 liveborns. Out of these 50% are significant in the sense that they produce haemodynamic effects. […] The commonest physiology that is seen in patients with congenital heart disease is left to right shunts. […] Any manoeuvres that decrease the PVR such as administration of oxygen, nitric oxide, or low arterial carbon dioxide tension and alkalosis will increase the left to right shunt. […] In an ASD, there is a left to right shunt at the atrial level. […] In VSD, there is a left to right shunt across the ventricular level. […] In a PDA, there is a left to right shunt during systole and diastole from the aorta to the pulmonary artery. […] In truncus arteriosus, the pulmonary arteries are connected to the aorta. A decrease in PVR at birth causes a left to right shunt with evidence of congestive heart failure.

• #1 Common Types of Heart Defects | American Heart Association

  https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/common-types-of-heart-defects

  Congenital heart defects are structural problems arising from abnormal formation of the heart or major blood vessels. […] Congenital heart defects are malformations that are present at birth. They may or may not have a disruptive effect on a person’s circulatory system. […] When valves, chambers, arteries and veins are malformed, this circulation pattern can be impaired. […] In normal development, the wall between the chambers closes before the fetus is born, so that by birth, oxygen-rich blood is kept from mixing with the oxygen-poor blood. When the hole does not close, it may cause higher pressure in the heart or reduced oxygen to the body.

• #1 Congenital Heart Disease | Causes, Types & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-heart-disease

  One out of every 100 infants born in the United States has a congenital (present at birth) heart defect. Heart defects occur as the babys heart is developing during pregnancy before the baby is born. Congenital heart defects are the most common birth defect. […] Most congenital heart defects have no known cause. Mothers (and fathers) often wonder if something they did during the pregnancy caused the heart problem. This is rarely the case. […] Some congenital heart defects do occur more often in families. This shows that there may be a genetic link. […] This is usually not the cause of most types of congenital heart defects. Some congenital heart defects occur if the mother had a certain disease while pregnant (like rubella) or was taking certain medicines (like anti-seizure medicines). […] In most cases, there is no specific reason as to why the heart defect occurred.

• #2 Factors Contributing to Congenital Heart Disease

  https://www.cincinnatichildrens.org/health/c/factors-chd

  A congenital heart defect (CHD) is a heart problem that is present at birth, caused by improper development of the heart during fetal development. […] In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly. […] Scientists know that some types of congenital heart defects can be related to an abnormality of an infant’s chromosomes (5 percent to 6 percent), single gene defects (3 percent to 5 percent) or environmental factors (2 percent). […] In 85 percent to 90 percent of cases, there is no identifiable cause for the heart defect, and it is generally considered to be caused by multifactorial inheritance. Multifactorial inheritance means that „many factors” are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.

• #2 Congenital heart disease: current knowledge about causes and inheritance | The Medical Journal of Australia

  https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance

  About 80% of congenital heart disease (CHD) is multifactorial and arises through various combinations of genetic and environmental contributors. […] About 20% of cases can be attributed to chromosomal anomalies, Mendelian syndromes, non-syndromal single gene disorders or teratogens. […] To date, more than 30 genes have been linked to non-syndromal forms of CHD. […] There is limited evidence for the contribution of specific environmental factors to CHD causation. […] Currently, about 20% of CHD cases can be attributed to known causes such as genetic syndromes and teratogens, but very little is known about the aetiology of most cases (about 80%). […] Chromosomal anomalies can cause CHD through several different mechanisms. […] Chromosomal anomalies account for about 8%10% of presenting cases of CHD.

• #2 Congenital heart disease: current knowledge about causes and inheritance – PubMed

  https://pubmed.ncbi.nlm.nih.gov/22860792/

  About 80% of congenital heart disease (CHD) is multifactorial and arises through various combinations of genetic and environmental contributors. […] About 20% of cases can be attributed to chromosomal anomalies, Mendelian syndromes, non-syndromal single gene disorders or teratogens. […] There is limited evidence for the contribution of specific environmental factors to CHD causation. […] However, folic acid supplementation in the pre- and peri-conception period, ensuring rubella vaccination has been completed before pregnancy, and maintaining good glycaemic control in mothers with diabetes may reduce the risk of CHD in infants. […] Recurrence risks vary between different types of non-syndromal CHD with multifactorial inheritance, and can be as high as 10% when two or more siblings are affected. […] Generally, the recurrence risk increases if a parent rather than a sibling is affected, particularly when the affected parent is the mother. […] High-throughput genetic techniques can accelerate gene discovery and improve our ability to provide individualised genetic counselling.

• #2 Congenital Heart Disease

  https://fpnotebook.com/CV/Peds/CngntlHrtDs.htm

  Incidence: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.) […] Serious causes requiring surgery in first year of life occur in 25% of cases […] Congenital Heart Defects are the leading congenital cause of death in infants […] Up to 60% of Congenital Heart Disease has a delayed diagnosis […] Ventricular Septal Defects account for 25% of cases […] Secundum-type Atrial Septal Defects (Ostium Secundum) account for 10% of cases […] Maternal Diabetes Mellitus […] Family History of Congenital Heart Disease […] Maternal history: 5-10% CHD risk […] Sibling history: 2-3% CHD risk […] Rubella exposure in first trimester (PDA) […] Residence at high altitude (PDA) […] Systemic Lupus Erythematosus […] Maternal medications and substances […] Trisomy 21 (50% Incidence of Congenital Heart Disease, Endocardial Cushion Defects)

• #2 Factors Contributing to Congenital Heart Disease

  https://www.cincinnatichildrens.org/health/c/factors-chd

  In the general population, about 1 percent of all children are born with congenital heart disease. However, the risk increases when either parent has congenital heart disease (CHD), or when another sibling was born with CHD. […] Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations. […] Five percent to 8 percent of all babies with CHD have a chromosome abnormality. […] There are a number of chromosome abnormalities associated with congenital heart defects. […] Several health problems with one genetic cause are often referred to as a syndrome. Some of the genetic syndromes associated with a higher incidence of heart defects include: […] If a child has been diagnosed with a chromosomal or other genetic abnormality, genetic counseling is helpful to determine the risk of heart defects occurring in future children.

• #2 Factors That May Lead to a Congenital Heart Defect (CHD)

  https://www.nationwidechildrens.org/conditions/health-library/factors-that-may-lead-to-a-congenital-heart-defect-chd

  Rubella is known to cause birth defects. A person who has rubella during their pregnancy has a very high chance of having a baby with birth defects, including CHD. […] There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 3 in 10 will have a heart defect. […] There are a number of chromosome problems linked with CHD. […] Some of the genetic syndromes that have a higher rate of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld syndrome, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses, Alagille syndrome. […] If a child has been diagnosed with a chromosomal or other genetic problem, talk with a genetic counselor to help determine the risk for heart defects in future children.

• #2 Congenital Heart Disease: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/heart/congenital-heart-disease/symptoms

  Congenital heart disease happens when something disrupts the normal development of the heart in utero. Often this takes place during the first six weeks of pregnancy. In most cases, doctors dont know what causes congenital heart disease. Sometimes it is inherited (runs in families). Certain genetic conditions are associated with high rates of congenital heart defects, including Downs syndrome, Turner syndrome, and Noonan syndrome. […] The specific cause of congenital heart disease is usually not known. But certain risk factors increase the chances of malformations during the hearts development, including: Smoking during pregnancy, Drinking alcohol during pregnancy, Rubella (German measles) during the first 8 to 10 weeks of pregnancy, Type 1 or type 2 diabetes (but not gestational diabetes), Flu (influenza) during the first three months of pregnancy, Taking certain medicines, including some for seizures and acne, Family history of congenital heart disease (inherited), Genetic conditions, including Downs, Turner, and Noonan syndromes.

• #2 Congenital heart disease and the role of genetics – Genes Matter

  https://www.veritasint.com/blog/en/congenital-heart-disease-and-the-role-of-genetics/

  Although it is true that in approximately half of the cases of CC a definitive cause is not established, thanks to technological and scientific advances it is now possible to identify genetic alterations in coding regions in approximately 45% of cases. […] Approximately 13% of newborns with CC have other abnormalities and may develop neurodevelopmental delay during infancy. […] It is worth mentioning that the most frequent aneuploidies during pregnancy, Down syndrome (trisomy 21), Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18), as well as Turner syndrome (monosomy of the X chromosome) can present associated CC. […] To date, more than 400 genes that contribute to CHD have been identified.

• #2 Congenital Heart Disease in Children | Doctor

  https://patient.info/doctor/congenital-heart-disease-in-children

  Congenital heart disease covers a wide spectrum from small defects, which may be totally asymptomatic and compatible with a normal lifespan, to more severe forms which require urgent intervention. […] The relative risk of recurrence of congenital heart disease increases if a first-degree relative has a congenital heart disease. […] A fetus may be affected during cardiac development by intrauterine infection such as rubella, or drugs and toxins taken by the mother, including lithium and alcohol. […] Some genetic conditions are associated with a higher incidence of congenital heart disease, including Down’s syndrome, DiGeorge’s syndrome, Williams’ syndrome, Noonan’s syndrome and Turner syndrome. […] Maternal diabetes mellitus is associated with an increased incidence (8.5 per hundred live births) of congenital heart disease. […] Although many forms of congenital heart disease are not currently preventable, the avoidance of known risk factors such as drugs and alcohol during pregnancy will help to reduce the risk.

• #2 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788

  These things can lead to a higher risk of a mother having a child with CHD: Seizure disorder and the need to take antiseizure medicines, Taking lithium to treat depression, Having phenylketonuria (PKU) and not staying on the special PKU diet during pregnancy, Insulin-dependent diabetes, especially if blood sugar is not well-controlled, Lupus, A connective tissue disorder, A pregnancy from assisted reproductive technology (ART). […] About 1% of all children are born with a congenital heart defect. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect.

• #2 Hidden Genetic Causes of Congenital Heart Disease Revealed | Inside Precision Medicine

  https://www.insideprecisionmedicine.com/topics/translational-research/hidden-genetic-causes-of-congenital-heart-disease-revealed/

  Scientists at the Icahn School of Medicine at Mount Sinai have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect that affects millions worldwide. […] Their study, published in The American Journal of Human Genetics, introduces a new approach to detecting digenic inheritance—cases where two genes work together to cause disease—challenging the traditional single-gene model of disease development. […] By analyzing trio exome sequencing data from affected and unaffected children in the Pediatric Genomic Consortium, the team identified 10 novel gene pairs potentially linked to CHD development. This discovery suggests that genetic interactions play a more significant role in disease formation than previously recognized. […] Our work demonstrates that genetic interactions, rather than single-gene causes alone, could play a significant role in congenital heart disease.

• #2 Researchers Identify Hidden Genetic Causes of Congenital Heart Disease – Salud America

  https://salud-america.org/researchers-identify-hidden-genetic-causes-of-congenital-heart-disease/

  “By identifying these gene pairs and their combined effects, we uncover previously hidden genetic risks, which could improve diagnostic precision and open new avenues for personalized treatment strategies,” Itan said. […] The research team used a “robust computational method” to identify gene pairs that may act together to cause CHD. […] “By developing a method to uncover these interactions, we are broadening the scope of genetic research, which could lead to improved diagnosis, enhanced risk assessment, and more informed genetic counseling,” said Dr. Meltem Ece Kars, first author and postdoctoral fellow in Charles Bronfman Institute for Personalized Medicine. […] Additionally, as clinical genetic testing advances, integrating digenic models could significantly improve diagnostic yield, which would offer patients and their families clarity about their condition and guiding the development of targeted therapies and interventions. […] “Our findings hold promise for improving genetic diagnoses, offering better risk assessments, and ultimately guiding more personalized treatments for individuals with congenital heart disease,” Kars said.

• #2 Congenital Heart Defects – Causes and Risk Factors | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/congenital-heart-defects/causes

  Smoking during pregnancy or exposure to secondhand smoke. […] Some medicines taken during the first trimester of pregnancy, such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acids for acne treatment. […] Other medical conditions like diabetes, phenylketonuria (a rare, inherited disorder that affects how your body processes a protein called phenylalanine), or a viral infection called rubella.

• #2 Adult Congenital Heart Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16891-heart-disease-adult-congenital-heart-disease

  Adult congenital heart disease (ACHD) is an umbrella term for conditions you’re born with that affect your heart’s structure. Congenital means that the defect forms while the fetus develops and is present at birth. […] Researchers aren’t sure exactly what causes adult congenital heart disease. Some ACHD may get passed down through families (inherited). In many cases, ACHD appears in conjunction with genetic diseases or disorders, such as Down syndrome and Turner syndrome. […] You may also have a higher risk of ACHD if your parent: Had rubella or influenza (flu) during the first three months of pregnancy. Had Type 1 diabetes or Type 2 diabetes. Took certain medications for acne, bipolar disorder or seizures. Took ibuprofen when 30 weeks or more pregnant.

• #2 Congenital Heart Defects Causes | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/congenital-heart-defects/causes.html

  The vast majority of congenital heart defects have no known cause. […] Some heart problems do occur more often in families, so there may be a genetic link to some heart defects. […] Some heart problems are likely to occur if the mother had a disease while pregnant and was taking medications, such as anti-seizure medicines or the acne medication isotretinoin. […] However, most of the time, there is no identifiable reason as to why the heart defect occurred.

• #2 What is the most common cause of congenital heart disease – Conquering CHDsearchhamburger-close

  https://www.conqueringchd.org/what-is-the-most-common-cause-of-congenital-heart-disease/

  Congenital heart disease is lifelong, with sufferers of the disease requiring long-term, specialized care. While most causes of CHD are unknown, there are a few factors that can impact the likelihood of a child being born with the disease. […] Both genes and environmental factors are linked to congenital heart disease in children. […] A child’s genes and chromosomes are one of the top factors that may impact the development of CHD. Out of the 1 percent of all infants born with heart defects, there is a three times increased risk for CHD development if a first-degree relative also has CHD. […] Some of the highest risks for developing CHD is during pregnancy. The first few weeks of pregnancy are a pivotal time for the development of the baby’s heart. […] Other factors that may increase the risk of CHD during pregnancy include: Seizures, seizure disorders, and anti-seizure medication; Some depression medications, like Lithium; Varying blood sugar levels caused by insulin-dependent diabetes; Chronic illnesses like Lupus, Phenylketonuria (PKU), or a connective tissue disorder; Pregnancy from ART (assisted reproductive technology).

• #2 What is Congenital Heart Disease? | Symptoms and Causes

  https://www.structuralheart.abbott/patients/congenital-heart-disease

  For most infants, the cause is unknown. In some cases the defect could be caused by problems with the genes or chromosomes. Less commonly, the defect could be linked to the mothers overall health, activities, or illnesses during pregnancy: […] HAVING RUBELLA (German measles) […] BEING OBESE OR HAVING DIABETES […] USING CERTAIN MEDICATIONS DURING PREGNANCY (for instance, angiotensin-converting enzyme [ACE] inhibitors for high blood pressure) […] SMOKING OR BEING AROUND SECONDHAND SMOKE.

• #2 Congenital heart disease: children & teens | Raising Children Network

  https://raisingchildren.net.au/guides/a-z-health-reference/congenital-heart-disease

  Children with congenital heart disease are born with defects in the structure of their hearts. The defects happen very early in pregnancy, when the heart is being formed. […] Most congenital heart disease doesn’t have a known cause. Around 20% of children with congenital heart disease also have a genetic condition like Down syndrome, trisomy 18 or CHARGE syndrome. Congenital heart disease occurs more often in some families. This suggests that there might be a genetic link. Environmental factors probably play a role in some cases of congenital heart disease. A baby is more likely to have congenital heart disease if during pregnancy their birthing mother: had diabetes, had rubella, took medicines like thalidomide, lithium or retinoic acid (vitamin A).

• #2 Congenital heart defects in children – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074

  Some medicines. Taking certain medicines during pregnancy can cause congenital heart disease and other health problems present at birth. […] Drinking alcohol during pregnancy increases the risk of congenital heart defects in the baby. […] Smoking during pregnancy increases the risk of congenital heart defects in the baby. […] Genetics. Congenital heart defects appear to run in families, which means they are inherited. Changes in genes have been linked to heart problems present at birth.

• #2 Factors Contributing to Congenital Heart Disease

  https://www.cincinnatichildrens.org/health/c/factors-chd

  However, some types of congenital heart defects are known to occur more often when the mother comes in contact with certain substances during the first few weeks of pregnancy, while the baby’s heart is developing. […] Some maternal illnesses and medications taken for these illnesses have been shown to affect the heart’s development. […] Women who have seizure disorders and need to take anti-seizure medications may have a higher risk for having a child with congenital heart disease, as do women who take lithium to treat depression. […] Mothers who have phenylketonuria (PKU) who do not adhere to the special diet necessary to manage the disease during pregnancy have a higher risk of having a child with congenital heart disease. […] Also, women with insulin-dependent diabetes (particularly if the diabetes is not well-controlled) or lupus may have a higher risk of having a child with heart defects.

• #2 Understanding your congenital heart condition – BHF

  https://www.bhf.org.uk/informationsupport/conditions/congenital-heart-disease

  Congenital heart disease is a fault or problem with the heart thats there from birth. This means it develops in the womb, before a baby is born. […] In most cases, we dont know why the heart has not developed normally. Research is looking at the causes of congenital heart disease. You may have an increased risk of congenital heart disease if: […] you have a family history of congenital heart disease […] your mum or birth parent had diabetes when they were pregnant […] your mum or birth parent took certain medicines when they were pregnant […] smoking and drinking during pregnancy […] infections like German measles (Rubella) during pregnancy […] your mum or birth parent had or has lupus.

• #2 Congenital heart disease | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/congenital-heart-disease

  Sometimes, during fetal development, the heart and blood vessels do not grow properly. […] In 8 out of 10 cases, the cause of heart defects at birth is unknown. […] In around 8 out of 10 cases, the reason for the congenital heart defect is unknown. Some of the known causes of CHD include: […] 20 per cent of cases have a genetic cause. […] A baby affected by certain birth defects, such as Down syndrome, is more likely to have malformations of the heart. […] Illness of the mother during pregnancy (for example, rubella now rare) may increase the risk of congenital heart disorders. […] Medication (over-the-counter or prescription) or illicit drugs taken by the mother during pregnancy may increase the risk of congenital heart disorders. […] A mother who drinks large amounts of alcohol during pregnancy may increase the risk of congenital heart disorders. […] Factors such as unmanaged diabetes and poor nutrition during pregnancy may increase the risk. […] Babies of older women are more likely to have a birth defect than babies of younger women.

• #2 Congenital heart disease | Heart and Stroke Foundation

  https://www.heartandstroke.ca/heart-disease/conditions/congenital-heart-disease

  Congenital heart disease is a heart condition you are born with. […] A congenital heart defect happens when the chambers, walls or valves of your heart or the blood vessels near the heart dont develop normally before birth. […] In many cases, the cause of congenital heart disease is unknown. However, known causes include: exposure of the fetus to maternal illnesses such as diabetes, German measles (rubella), fever illnesses and issues with metabolizing an amino acid during pregnancy (phenylketonuria), smoking, alcohol or recreational drug use during pregnancy, certain therapeutic drugs, such as thalidomide, environmental factors like air pollution, pesticides and extreme heat waves, specific inherited genetic defects and chromosomal abnormalities. […] Diets rich in folic acid, vitamin B2, riboflavin and nicotinamide have been shown to help protect unborn children from congenital heart disease.

• #2 Causes and Signs of Congenital Heart Defects | Banner Health

  https://www.bannerhealth.com/services/heart/heart-disease/congenital-heart-defects/causes-and-signs

  Congenital heart defects (CHDs) occur when something affects the normal development of the babys heart during pregnancy. These often happen in the first six weeks of pregnancy. […] In many cases, there is no known reason for heart defects. Sometimes, it is inherited (genetic). If you or other family members had a CHD, you or your baby might have a higher chance of having one, too. […] In addition, conditions like Down syndrome often come with heart defects. These genetic or chromosomal issues can affect how the heart forms. […] Other factors that may increase the chance of heart defects include: […] Some heart defects may be caused by something a pregnant person is exposed to during pregnancy. […] Certain medications taken during pregnancy can affect the babys heart. […] Having one of these conditions can increase the risk for a CHD: […] Not getting enough important vitamins, like folic acid, during pregnancy can contribute to heart defects.

• #2 Congenital Heart Disease (CHD) – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/congenital-heart-disease

  In approximately 80% of congenital heart disease cases, the cause is still unknown. This is an area our Embryology lab is focusing on. Some of the known causes include: […] Genetic mutations affecting single genes, multiple genes contained within copy number duplications or deletions, or chromosomal abnormalities with or without syndromic association […] Maternal illness during pregnancy […] Medication or drugs. Some over the counter, prescription or illicit drugs may increase the risk of CHD […] Alcohol consumption during pregnancy […] Parental health factors such as unmanaged diabetes or poor nutrition may increase the risk […] Environmental factors such as smoking and hypoxia (oxygen deficiency) […] Maternal age.

• #2 Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology | SpringerLink

  https://link.springer.com/book/10.1007/978-4-431-54628-3

  This volume focuses on the etiology and morphogenesis of congenital heart diseases. […] It reviews in detail the early development and differentiation of the heart, and later morphologic events of the cardiovascular system, covering a wide range of topics such as gene functions, growth factors, transcription factors and cellular interactions that are implicated in cardiac morphogenesis and congenital heart disease. […] This book also presents recent advances in stem cell and cell sheet tissue engineering technologies which have the potential to provide novel in vitro disease models and to generate regenerative paradigms for cardiac repair and regeneration. […] This is the ideal resource for physician scientists and investigators looking for updates on recent investigations on the origins of congenital heart disease and potential future therapies. […] Congenital Heart Disease: In Search of Remedial Etiologies.

• #2

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  In this condition, the pulmonary venous return is to the right heart. […] A physiological right to left shunt is when the deoxygenated blood that returns from the tissues returns back to the body without getting re-oxygenated. […] In a Tetrology of Fallot, due to presence of RV outflow tract obstruction, there is a right to left shunt across the large non-restricted VSD. […] In transposition of great arteries there is ventriculo-arterial discordance; RV connected to aorta and LV to pulmonary artery. […] In a patient with DORV depending on the relationship of the great arteries and the VSD, there can be manifestation of one of the 3 physiology: VSD physiology with left to right shunt and congestive heart failure, Tet physiology in the face of pulmonary stenosis causing paucity of pulmonary blood flow causing cyanosis, or a transposition physiology causing cyanosis with congestive heart failure. […] In a patient with Fontan repair, the IVC and SVC blood is directed passively to the pulmonary circulation.

• #2

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  Congenital heart disease occurs in 8 children for every 1000 liveborns. Out of these 50% are significant in the sense that they produce haemodynamic effects. […] The commonest physiology that is seen in patients with congenital heart disease is left to right shunts. […] Any manoeuvres that decrease the PVR such as administration of oxygen, nitric oxide, or low arterial carbon dioxide tension and alkalosis will increase the left to right shunt. […] In an ASD, there is a left to right shunt at the atrial level. […] In VSD, there is a left to right shunt across the ventricular level. […] In a PDA, there is a left to right shunt during systole and diastole from the aorta to the pulmonary artery. […] In truncus arteriosus, the pulmonary arteries are connected to the aorta. A decrease in PVR at birth causes a left to right shunt with evidence of congestive heart failure.

• #2

  https://abcnews.go.com/Health/HeartDiseaseLivingWith/story?id=4224649

  We don’t really know the cause of congenital heart defects. We do believe that there are both genetic factors, and that means a defect in a gene or a part of a gene that leads to development of the heart defect, and also environmental factors — exposure to infectious agents or exposure to certain toxic agents, or even not receiving pre-natal vitamins. […] If someone wants to prevent a heart defect, all they can do is make sure they receive pre-natal vitamins, they don’t smoke, and they try to lead a healthy lifestyle during pregnancy. […] We still think the usual risk factors: obesity, hypertension, smoking, genetics, diabetes — those are the things that affect the risk for developing heart disease, and we think those are much more important than any history of congenital heart defects or prior surgery.

• #2 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788

  There are a number of chromosome problems linked with CHD. […] When a single gene is changed, a number of health problems may occur. When several health problems occur from 1 genetic cause, its called a syndrome. Some of the genetic syndromes that have a higher rate of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld syndrome, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses, Alagille syndrome. […] If a child has been diagnosed with a chromosomal or other genetic problem, talk with a genetic counselor to help determine the risk for heart defects in future children.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20250220/Scientists-uncover-hidden-genetic-causes-of-congenital-heart-disease.aspx

  The research team used a robust computational method to identify gene pairs that may act together to cause CHD. […] „Our findings hold promise for improving genetic diagnoses, offering better risk assessments, and ultimately guiding more personalized treatments for individuals with congenital heart disease,” says Dr. Kars.

• #2 Congenital Heart Disease (CHD) in Children | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-heart-disease

  Congenital (meaning present at birth) heart disease is a term used to describe a number of different conditions that affect the heart. These heart abnormalities are problems that occur as the baby’s heart is developing during pregnancy, before the baby is born. Congenital heart disease (CHD) affects 1 in 120 babies born in the United States, making heart defects the most common birth defects. […] Often, congenital heart disease is a result of one of these crucial steps not happening at the right time. […] Most forms of congenital heart disease have no known cause. Mothers will often wonder if something they did during the pregnancy caused the heart problem. In most cases, nothing can be attributed to the heart defect. […] Some heart problems do occur more often in families, so there may be a genetic link to some heart conditions. Other CHDs are likely to occur if the mother had a disease while pregnant and was taking medications, such as anti-seizure medicines. However, most of the time there is no identifiable reason as to why the heart condition occurred.

• #3 Congenital Heart Disease | Causes, Types & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-heart-disease

  One out of every 100 infants born in the United States has a congenital (present at birth) heart defect. Heart defects occur as the babys heart is developing during pregnancy before the baby is born. Congenital heart defects are the most common birth defect. […] Most congenital heart defects have no known cause. Mothers (and fathers) often wonder if something they did during the pregnancy caused the heart problem. This is rarely the case. […] Some congenital heart defects do occur more often in families. This shows that there may be a genetic link. […] This is usually not the cause of most types of congenital heart defects. Some congenital heart defects occur if the mother had a certain disease while pregnant (like rubella) or was taking certain medicines (like anti-seizure medicines). […] In most cases, there is no specific reason as to why the heart defect occurred.

• #3 Factors That May Lead to a Congenital Heart Defect (CHD) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=factors-that-may-lead-to-a-congenital-heart-defect-chd-90-P01788

  These things can lead to a higher risk of a mother having a child with CHD: Seizure disorder and the need to take antiseizure medicines, Taking lithium to treat depression, Having phenylketonuria (PKU) and not staying on the special PKU diet during pregnancy, Insulin-dependent diabetes, especially if blood sugar is not well-controlled, Lupus, A connective tissue disorder, A pregnancy from assisted reproductive technology (ART). […] About 1% of all children are born with a congenital heart defect. There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect.

• #3

  https://www.mountelizabeth.com.sg/conditions-diseases/congenital-heart-disease/symptoms-causes

  Congenital heart disease (CHD) refers to heart defects that are present at birth. […] The causes for congenital heart diseases are mostly unknown. […] Several risk factors have been linked to the development of congenital heart disease and they include chromosomal abnormalities, genetic defects and environmental factors. […] Genetic and chromosomal conditions include: Down syndrome, which increases incidence of CHD by 50%. […] Environmental factors and exposure to certain substances in the early weeks of pregnancy when the baby’s heart is forming can increase the risk of the baby developing a congenital heart disease.

• #3 Congenital heart defects in children – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074

  A congenital heart defect is a problem with the structure of the heart that a child is born with. […] Congenital heart disease, also called a defect, refers to one or more problems with the heart structure that are present at birth. These abnormalities occur when the heart or blood vessels don’t form correctly in utero. […] Researchers aren’t sure what causes most types of congenital heart defects. They think that gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role. […] The exact cause of most congenital heart defects is unknown. But some risk factors have been identified. […] Risk factors for congenital heart defects include: Rubella, also called German measles. Having rubella during pregnancy can cause changes in a baby’s heart development.

• #3 Understanding your congenital heart condition – BHF

  https://www.bhf.org.uk/informationsupport/conditions/congenital-heart-disease

  Congenital heart disease is a fault or problem with the heart thats there from birth. This means it develops in the womb, before a baby is born. […] In most cases, we dont know why the heart has not developed normally. Research is looking at the causes of congenital heart disease. You may have an increased risk of congenital heart disease if: […] you have a family history of congenital heart disease […] your mum or birth parent had diabetes when they were pregnant […] your mum or birth parent took certain medicines when they were pregnant […] smoking and drinking during pregnancy […] infections like German measles (Rubella) during pregnancy […] your mum or birth parent had or has lupus.

• #3 Factors Contributing to Congenital Heart Disease

  https://www.cincinnatichildrens.org/health/c/factors-chd

  However, some types of congenital heart defects are known to occur more often when the mother comes in contact with certain substances during the first few weeks of pregnancy, while the baby’s heart is developing. […] Some maternal illnesses and medications taken for these illnesses have been shown to affect the heart’s development. […] Women who have seizure disorders and need to take anti-seizure medications may have a higher risk for having a child with congenital heart disease, as do women who take lithium to treat depression. […] Mothers who have phenylketonuria (PKU) who do not adhere to the special diet necessary to manage the disease during pregnancy have a higher risk of having a child with congenital heart disease. […] Also, women with insulin-dependent diabetes (particularly if the diabetes is not well-controlled) or lupus may have a higher risk of having a child with heart defects.

• #3 Congenital Heart Disease

  https://fpnotebook.com/CV/Peds/CngntlHrtDs.htm

  Trisomy 18 (95% Incidence of Congenital Heart Disease) […] Trisomy 13 (80-90% incidence Congenital Heart Disease) […] Turner Syndrome (45, XO) […] Marfan Syndrome […] Noonan Syndrome […] Fetal Alcohol Syndrome […] Acquired conditions […] Other […] DiGeorge Syndrome (Catch 22 Syndrome, Velocardiofacial Syndrome) […] VACTERL Association […] CHARGE Syndrome […] Serious causes of CHD account for 25% of the roughly 40,000 cases in the U.S. per year […] Of these serious causes (~10,000 cases/year in U.S.), 25% do not survive beyond first birthday.

• #3

  https://www.parkwayshenton.com.sg/conditions-diseases/congenital-heart-disease/symptoms-causes

  Congenital heart disease (CHD) refers to heart defects that are present at birth. […] The causes for congenital heart diseases are mostly unknown. […] Several risk factors have been linked to the development of congenital heart disease and they include chromosomal abnormalities, genetic defects and environmental factors. […] Genetic and chromosomal conditions include: Down syndrome, which increases incidence of CHD by 50%. […] Environmental factors and exposure to certain substances in the early weeks of pregnancy when the baby’s heart is forming can increase the risk of the baby developing a congenital heart disease. […] Smoking during pregnancy increases the risk of pregnancy complications, birth defects, and miscarriage.

• #3 Congenital heart disease: current knowledge about causes and inheritance | The Medical Journal of Australia

  https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance

  About 3%5% of CHD can be attributed to Mendelian syndromes where a single mutation in the DNA results in pathological consequences, following a Mendelian inheritance pattern. […] The proportion of cases falling into this group is still unknown, although it is presumed to be relatively small. […] Environmental factors influencing CHD can be broadly defined as any non-genetic factor with an associated risk of CHD development. […] The best documented maternal risk factor is maternal diabetes, with a reported fivefold increased risk of CHD from pregestational diabetes. […] Despite the inconclusive evidence reported, it seems reasonable to suggest a few basic recommendations aimed at minimising possible CHD risk factors for women who are or intend to become pregnant. […] In a minority of cases, it is possible to provide a precise recurrence risk for CHD, based on known Mendelian inheritance in a family or on risk figures related to a chromosomal anomaly. […] Recurrence risks also vary considerably among different types of CHD. […] Recent advances in technology provide us with the potential to better understand conditions with a genetic component that have not previously been well understood.

• #3 Congenital Heart Disease

  https://fpnotebook.com/CV/Peds/CngntlHrtDs.htm

  Incidence: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.) […] Serious causes requiring surgery in first year of life occur in 25% of cases […] Congenital Heart Defects are the leading congenital cause of death in infants […] Up to 60% of Congenital Heart Disease has a delayed diagnosis […] Ventricular Septal Defects account for 25% of cases […] Secundum-type Atrial Septal Defects (Ostium Secundum) account for 10% of cases […] Maternal Diabetes Mellitus […] Family History of Congenital Heart Disease […] Maternal history: 5-10% CHD risk […] Sibling history: 2-3% CHD risk […] Rubella exposure in first trimester (PDA) […] Residence at high altitude (PDA) […] Systemic Lupus Erythematosus […] Maternal medications and substances […] Trisomy 21 (50% Incidence of Congenital Heart Disease, Endocardial Cushion Defects)

• #3 Causes

  https://www.cardiosmart.org/topics/congenital-heart-disease/causes

  In most cases, doctors don’t know why heart-related birth defects occur. Research suggests the following may play a role: […] Our genes. At least 15% of congenital heart disease can be traced back to genes passed down from mom or dad, according to the Centers for Disease Control and Prevention. […] Other genetic abnormalities. For example, half of all babies with Down Syndrome also have heart issues from birth, according to the National Heart Lung and Blood Institute. […] Certain viruses. For example, women who get German measles (rubella) during the first three months of pregnancy have a greater chance of having a baby with a heart defect. […] Other environmental (for example, high altitude) and maternal factors, including obesity, high cholesterol, diabetes and certain medications.

• #3 Causes, prevention, and management of congenital heart disease

  https://www.apollo247.com/health-topics/heart-disease/congenital-heart-disease-etiology

  Foetal heart development can be influenced by various maternal health factors. While some risks are unavoidable, others can be mitigated through proper care and preventive measures. […] Heart development begins within weeks of conception through an intricate sequence of precisely timed events. This complex process requires specific conditions and proper timing. […] Besides being an emerging concern for humanity in general, exposure to toxins such as heavy metals poses great risks to foetal development, potentially leading to structural and functional abnormalities in the heart. […] Many research studies explore interactions between genes and the environment in CHD development. At the same time, advancements in diagnostic tools are empowering earlier and more precise detection, improving outcomes for individuals detected with CHD. […] CHD emerges from complex interactions between genetic, environmental, and maternal factors. However, thankfully, scientific advances continue to work on improving outcomes and quality of life.

• #3

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  In this condition, the pulmonary venous return is to the right heart. […] A physiological right to left shunt is when the deoxygenated blood that returns from the tissues returns back to the body without getting re-oxygenated. […] In a Tetrology of Fallot, due to presence of RV outflow tract obstruction, there is a right to left shunt across the large non-restricted VSD. […] In transposition of great arteries there is ventriculo-arterial discordance; RV connected to aorta and LV to pulmonary artery. […] In a patient with DORV depending on the relationship of the great arteries and the VSD, there can be manifestation of one of the 3 physiology: VSD physiology with left to right shunt and congestive heart failure, Tet physiology in the face of pulmonary stenosis causing paucity of pulmonary blood flow causing cyanosis, or a transposition physiology causing cyanosis with congestive heart failure. […] In a patient with Fontan repair, the IVC and SVC blood is directed passively to the pulmonary circulation.

• #3 Congenital Heart Disease in Children | Doctor

  https://patient.info/doctor/congenital-heart-disease-in-children

  Congenital heart disease covers a wide spectrum from small defects, which may be totally asymptomatic and compatible with a normal lifespan, to more severe forms which require urgent intervention. […] The relative risk of recurrence of congenital heart disease increases if a first-degree relative has a congenital heart disease. […] A fetus may be affected during cardiac development by intrauterine infection such as rubella, or drugs and toxins taken by the mother, including lithium and alcohol. […] Some genetic conditions are associated with a higher incidence of congenital heart disease, including Down’s syndrome, DiGeorge’s syndrome, Williams’ syndrome, Noonan’s syndrome and Turner syndrome. […] Maternal diabetes mellitus is associated with an increased incidence (8.5 per hundred live births) of congenital heart disease. […] Although many forms of congenital heart disease are not currently preventable, the avoidance of known risk factors such as drugs and alcohol during pregnancy will help to reduce the risk.

• #3 Factors That May Lead to a Congenital Heart Defect (CHD)

  https://www.nationwidechildrens.org/conditions/health-library/factors-that-may-lead-to-a-congenital-heart-defect-chd

  Rubella is known to cause birth defects. A person who has rubella during their pregnancy has a very high chance of having a baby with birth defects, including CHD. […] There is an overall 3 times increased risk for CHD when a first-degree relative has a CHD. […] Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 3 in 10 will have a heart defect. […] There are a number of chromosome problems linked with CHD. […] Some of the genetic syndromes that have a higher rate of heart defects include: Marfan syndrome, Smith-Lemli-Opitz syndrome, Ellis-van Creveld syndrome, Holt-Oram syndrome, Noonan syndrome, Mucopolysaccharidoses, Alagille syndrome. […] If a child has been diagnosed with a chromosomal or other genetic problem, talk with a genetic counselor to help determine the risk for heart defects in future children.

• #3 Hidden Genetic Causes of Congenital Heart Disease Revealed | Inside Precision Medicine

  https://www.insideprecisionmedicine.com/topics/translational-research/hidden-genetic-causes-of-congenital-heart-disease-revealed/

  The researchers employed a computational method to identify gene pairs that may act together in CHD development. […] Their ultimate goal is to develop a polygenic framework that can account for multiple genetic variants contributing to disease risk, paving the way for more precise and effective medical interventions. […] Our findings hold promise for improving genetic diagnoses, offering better risk assessments, and ultimately guiding more personalized treatments for individuals with congenital heart disease.

• #3 Congenital Heart Disease: Understanding Causes and Types of Heart Defects in Kids

  https://mydoctor.kaiserpermanente.org/mas/news/congenital-heart-disease-understanding-causes-and-types-of-heart-defects-in-kids-1929009

  However, there are certain factors that can increase the risk of having a child with a congenital heart disease. These include: Family history of certain heart conditions, Drug/alcohol use during pregnancy, Genetic conditions of the baby such as Down syndrome and Turner syndrome, Uncontrolled maternal diabetes, Autoimmune disorders, Taking certain medications during pregnancy, such as antiseizure medications. […] Parents want to know why their baby has a congenital heart defect. […] While I encourage moms to take prenatal vitamins, avoid smoking and medications known to cause birth defects, and to keep their prenatal doctor’s appointments, in most cases, there is nothing they could have done to prevent the defect. They should not blame themselves.

• #4 Congenital Heart Disease Symptoms and Causes | Artemis Cardiac Care

  https://artemiscardiac.com/blog/unveiling-congenital-heart-disease-symptoms-recognizing-early-signs

  Diabetes during pregnancy: The development of the baby’s heart may also be impacted by type 1 or type 2 diabetes during pregnancy. Congenital heart disease is generally not associated with gestational diabetes (pregnancy-related diabetes). […] Rubella infection to the pregnant woman: Rubella exposure during pregnancy may impact the fetus’s cardiac development. […] Medications: Certain drugs have the potential to cause birth defects such as congenital heart disease during pregnancy. Lithium for bipolar disorder and isotretinoin for acne, are two medications that have been linked to development of heart defects. […] Smoking during pregnancy: Give up smoking if you do. Pregnancy-related smoking raises the baby’s risk of congenital heart defects. […] Alcohol intake during pregnancy: Alcohol consumption during pregnancy has been associated with a greater risk of congenital heart defects.

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