Materiały źródłowe

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Causes-and-Symptoms-of-Hypoplastic-Left-Heart-Syndrome.aspx

  Hypoplastic left heart syndrome (HLHS) is one of the most serious congenital heart anomalies, with an incidence of about 0.016-0.036% in North America, and has a mortality of 100% if untreated. […] The cause of this syndrome is not known. Some genetic factors also predispose to the development of this syndrome, but they have not been identified as yet. […] 12% of infants with HLHS have other non-heart-related anomalies such as Holt-Oram or Turner syndromes.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Causes-and-Symptoms-of-Hypoplastic-Left-Heart-Syndrome.aspx

  Hypoplastic left heart syndrome (HLHS) is one of the most serious congenital heart anomalies, with an incidence of about 0.016-0.036% in North America, and has a mortality of 100% if untreated. […] The cause of this syndrome is not known. Some genetic factors also predispose to the development of this syndrome, but they have not been identified as yet. […] 12% of infants with HLHS have other non-heart-related anomalies such as Holt-Oram or Turner syndromes.

• #3 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Hypoplastic left heart syndrome (HLHS) is a relatively rare severe congenital heart defect (CHD) closely linked to other left ventricular outflow tract (LVOT) lesions including bicuspid aortic valve (BAV), one of the most common heart defects. While HLHS, BAV, and other LVOT lesions have a strong genetic underpinning, their genetic etiology remains poorly understood. […] Findings from a large-scale mouse mutagenesis screen showed HLHS has a multigenic etiology and is genetically heterogenous, explaining difficulties in identifying the genetic causes of HLHS. […] Clinical studies have indicated a strong genetic underpinning for HLHS and other related left ventricular outflow tract obstructive (LVOTO) lesions that can include bicuspid aortic valve (BAV) and coarctation of the aorta. […] This has been demonstrated in multiple familial studies where high heritability was observed.

• #4 Hypoplastic left heart syndrome – Wikipedia

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

  Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. […] The etiology is believed to be multifactorial resulting from a combination of genetic mutations and defects resulting in altered blood flow in the heart. […] Some cases may have a genetic component, as HLHS has been shown to be heritable and associated with specific gene mutations. […] Possible contributing factors may include intrauterine infarction, infectious changes, and a selective left ventricular cardiomyopathy. […] Genetic loci associated with HLHS include GJA1 (connexin 43), HAND1, NKX2.5, 10q22, and 6q23. […] There is a slight risk of recurrence in future pregnancies, estimated to be 2-4%, which increases to 25% in families with two affected children.

• #5 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Also pointing to a genetic etiology for HLHS is the known association of HLHS with various syndromic disorders involving chromosome abnormalities such as Turner syndrome, Jacobsen syndrome, Holt-Oram syndrome, and trisomy 18. […] From the familial studies, linkage of 13 chromosome intervals with HLHS have been identified. […] Statistical modeling of the data from these linkage studies have indicated the most likely genetic model as digenic. […] Such non-Mendelian or complex genetic etiology would explain why despite the ever-increasing abundance of whole exome and genome sequencing data for patients with HLHS and other related LVOTO lesions, the genetics of HLHS is still poorly understood. […] Currently only a handful of genes have been implicated in HLHS such as NOTCH1, RBFOX2, MYH6, NKX2.5, and LRP2.

• #6 Hypoplastic left heart syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/hypoplastic-left-heart-syndrome/

  Hypoplastic left heart syndrome is a congenital condition in which the left side of the heart is underdeveloped. While in most cases the cause is not known, changes in the GJA1 gene are known to be a cause. […] While in most children with hypoplastic left heart syndrome the cause is not known, there are some cases that are known to be caused by changes in the GJA1 gene, which lies at Ch6q22, or the NKX2-5 gene, which lies at Ch5q35.1. […] If hypoplastic left heart syndrome is caused by a GJA1 variant, it has an autosomal recessive inheritance pattern. Cases caused by NKX2-5 follow an autosomal dominant inheritance pattern.

• #7 Hypoplastic left heart syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/hypoplastic-left-heart-syndrome/

  Hypoplastic left heart syndrome is a congenital condition in which the left side of the heart is underdeveloped. While in most cases the cause is not known, changes in the GJA1 gene are known to be a cause. […] While in most children with hypoplastic left heart syndrome the cause is not known, there are some cases that are known to be caused by changes in the GJA1 gene, which lies at Ch6q22, or the NKX2-5 gene, which lies at Ch5q35.1. […] If hypoplastic left heart syndrome is caused by a GJA1 variant, it has an autosomal recessive inheritance pattern. Cases caused by NKX2-5 follow an autosomal dominant inheritance pattern.

• #8 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Hypoplastic left heart syndrome (HLHS) is a relatively rare severe congenital heart defect (CHD) closely linked to other left ventricular outflow tract (LVOT) lesions including bicuspid aortic valve (BAV), one of the most common heart defects. While HLHS, BAV, and other LVOT lesions have a strong genetic underpinning, their genetic etiology remains poorly understood. […] Findings from a large-scale mouse mutagenesis screen showed HLHS has a multigenic etiology and is genetically heterogenous, explaining difficulties in identifying the genetic causes of HLHS. […] Clinical studies have indicated a strong genetic underpinning for HLHS and other related left ventricular outflow tract obstructive (LVOTO) lesions that can include bicuspid aortic valve (BAV) and coarctation of the aorta. […] This has been demonstrated in multiple familial studies where high heritability was observed.

• #9 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK554576/

  Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by underdevelopment of the left-sided cardiac structures, including the LV, mitral valve, aortic valve, and ascending aorta. The etiology of HLHS is multifactorial, involving a combination of genetic, environmental, and possibly epigenetic influences. […] HLHS has been associated with chromosomal abnormalities and single-gene mutations. Specific genetic syndromes linked to HLHS include Turner syndrome, trisomy 13, and trisomy 18. […] The primary defect in HLHS arises during embryogenesis, between weeks 4 and 8 of gestation, due to abnormal development of the left-sided heart structures. […] While specific environmental exposures have not been definitively linked to HLHS, maternal factors such as pregestational diabetes, advanced maternal age, and certain teratogenic exposures may modestly increase the risk.

• #10 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Also pointing to a genetic etiology for HLHS is the known association of HLHS with various syndromic disorders involving chromosome abnormalities such as Turner syndrome, Jacobsen syndrome, Holt-Oram syndrome, and trisomy 18. […] From the familial studies, linkage of 13 chromosome intervals with HLHS have been identified. […] Statistical modeling of the data from these linkage studies have indicated the most likely genetic model as digenic. […] Such non-Mendelian or complex genetic etiology would explain why despite the ever-increasing abundance of whole exome and genome sequencing data for patients with HLHS and other related LVOTO lesions, the genetics of HLHS is still poorly understood. […] Currently only a handful of genes have been implicated in HLHS such as NOTCH1, RBFOX2, MYH6, NKX2.5, and LRP2.

• #11 Hypoplastic left heart syndrome | Lima Memorial Health System

  https://www.limamemorial.org/health-library/hie%20multimedia-textonly/1/001106

  Hypoplastic left heart syndrome occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The condition is present at birth (congenital). […] As with most congenital heart defects, there is no known cause. About 10% of babies with hypoplastic left heart syndrome also have other birth defects. It is also associated with some genetic diseases such as Turner syndrome, Jacobsen syndrome, trisomy 13 and 18. […] The problem develops before birth when the left ventricle and other structures do not grow properly, including the: Aorta (the blood vessel that carries oxygen-rich blood from the left ventricle to the entire body), Entrance and exit of the ventricle, Mitral and aortic valves. […] There is no known prevention for hypoplastic left heart syndrome. As with many congenital diseases, the causes of hypoplastic left heart syndrome are uncertain and have not been linked to a mother’s disease or behavior.

• #12 SSA – POMS: DI 23022.565 – Hypoplastic Left Heart Syndrome – 08/25/2020

  https://secure.ssa.gov/poms.nsf/lnx/0423022565

  Hypoplastic Left Heart Syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely under-developed. […] Approximately 20% of children with HLHS have other birth defects or genetic syndromes. […] This congenital disease is fatal if not surgically treated during the first weeks of life.

• #13 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Also pointing to a genetic etiology for HLHS is the known association of HLHS with various syndromic disorders involving chromosome abnormalities such as Turner syndrome, Jacobsen syndrome, Holt-Oram syndrome, and trisomy 18. […] From the familial studies, linkage of 13 chromosome intervals with HLHS have been identified. […] Statistical modeling of the data from these linkage studies have indicated the most likely genetic model as digenic. […] Such non-Mendelian or complex genetic etiology would explain why despite the ever-increasing abundance of whole exome and genome sequencing data for patients with HLHS and other related LVOTO lesions, the genetics of HLHS is still poorly understood. […] Currently only a handful of genes have been implicated in HLHS such as NOTCH1, RBFOX2, MYH6, NKX2.5, and LRP2.

• #14 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Also pointing to a genetic etiology for HLHS is the known association of HLHS with various syndromic disorders involving chromosome abnormalities such as Turner syndrome, Jacobsen syndrome, Holt-Oram syndrome, and trisomy 18. […] From the familial studies, linkage of 13 chromosome intervals with HLHS have been identified. […] Statistical modeling of the data from these linkage studies have indicated the most likely genetic model as digenic. […] Such non-Mendelian or complex genetic etiology would explain why despite the ever-increasing abundance of whole exome and genome sequencing data for patients with HLHS and other related LVOTO lesions, the genetics of HLHS is still poorly understood. […] Currently only a handful of genes have been implicated in HLHS such as NOTCH1, RBFOX2, MYH6, NKX2.5, and LRP2.

• #15 Hypoplastic left heart syndrome – Wikipedia

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

  Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. […] The etiology is believed to be multifactorial resulting from a combination of genetic mutations and defects resulting in altered blood flow in the heart. […] Some cases may have a genetic component, as HLHS has been shown to be heritable and associated with specific gene mutations. […] Possible contributing factors may include intrauterine infarction, infectious changes, and a selective left ventricular cardiomyopathy. […] Genetic loci associated with HLHS include GJA1 (connexin 43), HAND1, NKX2.5, 10q22, and 6q23. […] There is a slight risk of recurrence in future pregnancies, estimated to be 2-4%, which increases to 25% in families with two affected children.

• #16 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK554576/

  Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by underdevelopment of the left-sided cardiac structures, including the LV, mitral valve, aortic valve, and ascending aorta. The etiology of HLHS is multifactorial, involving a combination of genetic, environmental, and possibly epigenetic influences. […] HLHS has been associated with chromosomal abnormalities and single-gene mutations. Specific genetic syndromes linked to HLHS include Turner syndrome, trisomy 13, and trisomy 18. […] The primary defect in HLHS arises during embryogenesis, between weeks 4 and 8 of gestation, due to abnormal development of the left-sided heart structures. […] While specific environmental exposures have not been definitively linked to HLHS, maternal factors such as pregestational diabetes, advanced maternal age, and certain teratogenic exposures may modestly increase the risk.

• #17 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Detailed analysis conducted on the HLHS mouse line named Ohia showed the LV hypoplasia arises early in development, around E11.5-12.5, prior to completion of development of the four-chamber heart. […] Recovery of the mutations in the Ohia mouse line by whole exome sequencing and further genotype-phenotype analysis revealed a digenic etiology with mutations in two genes causing HLHS: Sin3A associated protein 130 or Sap130, a chromatin modifying protein in the Sin3A containing HDAC repressor complex and Pcdha9, protocadherin A9 cell adhesion protein. […] Neither gene was known to cause HLHS previously. […] The role of these two mutations in causing HLHS was confirmed with the replication of the HLHS phenotype in mice with the CRISPR gene edited Sap130/Pcdha9 alleles. […] Interestingly, analysis of each mutation separately showed the Sap130 mutation likely drives the hypoplastic LV phenotype, while the Pcdha9 mutation may contribute to the aorta/aortic valve defect phenotypes.

• #18 Hypoplastic left heart syndrome – Wikipedia

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

  HLHS is also associated with several genetic syndromes, including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), partial trisomy 9, Turner’s syndrome (XO), Jacobsen syndrome (11q deletion syndrome), Holt-Oram syndrome, and Smith-Lemli-Opitz syndrome. […] A popular theory termed the „no flow, no grow” hypothesis suggest that primary anatomic defects of the aortic and mitral valves lead to malformations of the left ventricle and its outflow tract. […] These primary defects can be divided into those that lead to outflow tract obstruction or reduced left ventricular filling. […] Outflow tract obstruction leads to left ventricular hypertrophy and reduction in the left ventricular lumen.

• #19 Hypoplastic left heart syndrome – Wikipedia

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

  HLHS is also associated with several genetic syndromes, including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), partial trisomy 9, Turner’s syndrome (XO), Jacobsen syndrome (11q deletion syndrome), Holt-Oram syndrome, and Smith-Lemli-Opitz syndrome. […] A popular theory termed the „no flow, no grow” hypothesis suggest that primary anatomic defects of the aortic and mitral valves lead to malformations of the left ventricle and its outflow tract. […] These primary defects can be divided into those that lead to outflow tract obstruction or reduced left ventricular filling. […] Outflow tract obstruction leads to left ventricular hypertrophy and reduction in the left ventricular lumen.

• #20 Pediatric Hypoplastic Left Heart Syndrome: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/890196-overview

  The exact cause of hypoplastic left heart syndrome is unknown. Although familial cases with autosomal recessive inheritance have been reported, hypoplastic left heart syndrome is generally postulated to follow multifactorial mode of inheritance. Most likely, the primary abnormality occurs during aortic and mitral valve development. During cardiac development, adequate flow of blood through a structure is largely responsible for the growth of that structure. With little or no blood flow because of aortic and mitral valve atresia, growth of the left ventricle does not occur. […] Similarly, growth of the ascending aorta does not occur because of lack of left ventricular output. The ascending aorta is perfused in retrograde manner from the ductus arteriosus functioning only as a common coronary artery.

• #21 Pediatric Hypoplastic Left Heart Syndrome: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/890196-overview

  The exact cause of hypoplastic left heart syndrome is unknown. Although familial cases with autosomal recessive inheritance have been reported, hypoplastic left heart syndrome is generally postulated to follow multifactorial mode of inheritance. Most likely, the primary abnormality occurs during aortic and mitral valve development. During cardiac development, adequate flow of blood through a structure is largely responsible for the growth of that structure. With little or no blood flow because of aortic and mitral valve atresia, growth of the left ventricle does not occur. […] Similarly, growth of the ascending aorta does not occur because of lack of left ventricular output. The ascending aorta is perfused in retrograde manner from the ductus arteriosus functioning only as a common coronary artery.

• #22 Pediatric Hypoplastic Left Heart Syndrome: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/890196-overview

  Premature closure or absence of the foramen ovale represents another theoretical cause of hypoplastic left heart syndrome because it eliminates fetal blood flow from the inferior vena cava to the left atrium. Fetal pulmonary blood flow is not sufficient for normal development of the left atrium, left ventricle, and ascending aorta. […] Another postulated cause is misalignment of the atrial septum to the left. […] More recent studies suggest that hypoplastic left heart syndrome is genetically heterogeneous and hypoplastic left heart syndrome and bicuspid aortic valve are genetically related.

• #23 Pediatric Hypoplastic Left Heart Syndrome: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/890196-overview

  Premature closure or absence of the foramen ovale represents another theoretical cause of hypoplastic left heart syndrome because it eliminates fetal blood flow from the inferior vena cava to the left atrium. Fetal pulmonary blood flow is not sufficient for normal development of the left atrium, left ventricle, and ascending aorta. […] Another postulated cause is misalignment of the atrial septum to the left. […] More recent studies suggest that hypoplastic left heart syndrome is genetically heterogeneous and hypoplastic left heart syndrome and bicuspid aortic valve are genetically related.

• #24 Hypoplastic left heart syndrome – Wikipedia

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

  Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. […] The etiology is believed to be multifactorial resulting from a combination of genetic mutations and defects resulting in altered blood flow in the heart. […] Some cases may have a genetic component, as HLHS has been shown to be heritable and associated with specific gene mutations. […] Possible contributing factors may include intrauterine infarction, infectious changes, and a selective left ventricular cardiomyopathy. […] Genetic loci associated with HLHS include GJA1 (connexin 43), HAND1, NKX2.5, 10q22, and 6q23. […] There is a slight risk of recurrence in future pregnancies, estimated to be 2-4%, which increases to 25% in families with two affected children.

• #25 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK554576/

  Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by underdevelopment of the left-sided cardiac structures, including the LV, mitral valve, aortic valve, and ascending aorta. The etiology of HLHS is multifactorial, involving a combination of genetic, environmental, and possibly epigenetic influences. […] HLHS has been associated with chromosomal abnormalities and single-gene mutations. Specific genetic syndromes linked to HLHS include Turner syndrome, trisomy 13, and trisomy 18. […] The primary defect in HLHS arises during embryogenesis, between weeks 4 and 8 of gestation, due to abnormal development of the left-sided heart structures. […] While specific environmental exposures have not been definitively linked to HLHS, maternal factors such as pregestational diabetes, advanced maternal age, and certain teratogenic exposures may modestly increase the risk.

• #26 Hypoplastic Left Heart Syndrome (HLHS): Causes, Symptoms, and Treatment Options • Yesil Health

  https://yesilhealth.com/your-health/hypoplastic-left-heart-syndrome-hlhs-causes-symptoms-and-treatment-options/

  Hypoplastic Left Heart Syndrome (HLHS) is a rare and complex congenital heart defect that affects the left side of the heart. It occurs when the left ventricle, aorta, and mitral valve do not develop properly during fetal development. This can lead to a range of complications, including inadequate blood flow to the body and oxygen deprivation. […] The exact causes of HLHS are still not fully understood, but it is believed to be related to genetic and environmental factors. Some potential risk factors include: Family history of heart defects, Maternal diabetes, Maternal obesity, Certain medications taken during pregnancy. […] HLHS can occur in families with a history of congenital heart defects, suggesting a possible genetic link. In some cases, genetic mutations or chromosomal abnormalities may increase the risk of developing HLHS. For example, Turner syndrome, a genetic disorder that affects girls, is associated with an increased risk of HLHS.

• #27 Hypoplastic Left Heart Syndrome (HLHS): Causes, Symptoms, and Treatment Options • Yesil Health

  https://yesilhealth.com/your-health/hypoplastic-left-heart-syndrome-hlhs-causes-symptoms-and-treatment-options/

  Environmental factors, such as maternal health during pregnancy, may also play a role in the development of HLHS. For instance: Maternal diabetes: Women with diabetes during pregnancy are at a higher risk of having a baby with HLHS. Maternal obesity: Obesity during pregnancy may increase the risk of congenital heart defects, including HLHS. Maternal age: Advanced maternal age (over 35 years) may increase the risk of HLHS. […] In addition to genetic and environmental factors, other risk factors may contribute to the development of HLHS, including: Family history of congenital heart defects: A family history of congenital heart defects may increase the risk of HLHS. Prenatal infections: Certain infections during pregnancy, such as rubella, may increase the risk of congenital heart defects.

• #28 Hypoplastic Left Heart Syndrome (HLHS): Causes, Symptoms, and Treatment Options • Yesil Health

  https://yesilhealth.com/your-health/hypoplastic-left-heart-syndrome-hlhs-causes-symptoms-and-treatment-options/

  Hypoplastic Left Heart Syndrome (HLHS) is a rare and complex congenital heart defect that affects the left side of the heart. It occurs when the left ventricle, aorta, and mitral valve do not develop properly during fetal development. This can lead to a range of complications, including inadequate blood flow to the body and oxygen deprivation. […] The exact causes of HLHS are still not fully understood, but it is believed to be related to genetic and environmental factors. Some potential risk factors include: Family history of heart defects, Maternal diabetes, Maternal obesity, Certain medications taken during pregnancy. […] HLHS can occur in families with a history of congenital heart defects, suggesting a possible genetic link. In some cases, genetic mutations or chromosomal abnormalities may increase the risk of developing HLHS. For example, Turner syndrome, a genetic disorder that affects girls, is associated with an increased risk of HLHS.

• #29 Hypoplastic Left Heart Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK554576/

  Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by underdevelopment of the left-sided cardiac structures, including the LV, mitral valve, aortic valve, and ascending aorta. The etiology of HLHS is multifactorial, involving a combination of genetic, environmental, and possibly epigenetic influences. […] HLHS has been associated with chromosomal abnormalities and single-gene mutations. Specific genetic syndromes linked to HLHS include Turner syndrome, trisomy 13, and trisomy 18. […] The primary defect in HLHS arises during embryogenesis, between weeks 4 and 8 of gestation, due to abnormal development of the left-sided heart structures. […] While specific environmental exposures have not been definitively linked to HLHS, maternal factors such as pregestational diabetes, advanced maternal age, and certain teratogenic exposures may modestly increase the risk.

• #30 Hypoplastic Left Heart Syndrome (HLHS): Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/hypoplastic-left-heart-syndrome-hlhs

  Because the cause for hypoplastic left heart syndrome is unknown, it is difficult to discuss with certainty the risk factors that cause the condition. However, genetics are believed to play a role in the abnormalities that create hypoplastic left heart syndrome. […] Changes in the babys genes or chromosomal damage occur in the mothers womb. Exposure to toxic chemicals while pregnant could cause chromosome deviations. In addition, what a mother eats, drinks, or takes as medication could adversely affect the unborn child. Some medications are known to cause birth defects and should be avoided.

• #31 Hypoplastic Left Heart Syndrome (HLHS): Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/hypoplastic-left-heart-syndrome-hlhs

  Hypoplastic left heart syndrome (HLHS) is a serious, but rare, congenital heart defect that causes abnormal development of the left side of the heart during gestation. […] The cause of hypoplastic left heart syndrome and other congenital heart defects is unknown. However, hypoplastic left heart syndrome begins during the developmental stage while a baby is in the mothers womb. During this period, the openings between the right and left side of the heart that allow oxygen-rich blood and oxygen-poor blood to flow to and from the heart and lungs forms abnormally, reducing the flow of blood from the left side of the heart. This obstruction of oxygen delivery causes excess work for the right side of the heart and reduction of oxygen-rich blood throughout the body. […] Defects in the genes and chromosomes are believed to be a possible cause of heart defects like HLHS. Environmental exposure to toxins or what a mother eats or drinks during pregnancy could contribute to heart defects. In addition, certain medications should be avoided during pregnancy because of the risk for developing birth defects.

• #32 Hypoplastic Left Heart Syndrome: What You Need to Know About This Rare Heart Defect

  https://www.webmd.com/parenting/baby/hypoplastic-left-heart

  Sometimes during pregnancy, the left side of a baby’s heart doesn’t grow the way it should. This causes a rare defect called hypoplastic left heart syndrome (HLHS). […] Doctors don’t know why HLHS happens, but it does run in families. Some experts think that what the mother eats, drinks, or comes into contact with during pregnancy may also increase the risk that their baby will have HLHS. This might include smoking or drinking alcohol or not taking a prenatal vitamin with folic acid.

• #33 Hypoplastic left heart syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-23

  Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. […] The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. […] Early epidemiologic studies report a multifactorial influence to be the cause of up to 90% of cardiac anomalies, with a recurrence rate in further offspring of 2% to 6%. […] Associated risk factors include maternal, gestational, and familial conditions. […] Fetal exposure to teratogens may also be a risk factor. […] Likewise, fetal exposure to active maternal infections, such as rubella, herpesvirus, coxsackievirus B5, and cytomegalovirus, may be a risk. […] Chromosomal aberrations account for about 6% of all congenitally malformed hearts. […] In the case of hypoplasia of the left heart, the resulting multiple anomalies may result from either the multifactorial factors described above, or from a reduction of left ventricular inflow or outflow during fetal development.

• #34 Hypoplastic Left Heart Syndrome: Symptoms & Causes | Qwark

  https://qwarkhealth.com/conditions/hypoplastic-left-heart-syndrome

  Hypoplastic Left Heart Syndrome is a congenital heart defect that affects the left side of the heart. In this condition, the heart’s left ventricle, aorta, and mitral valve are underdeveloped, which impairs the heart’s ability to pump oxygen-rich blood to the body. […] Hypoplastic Left Heart Syndrome is not a single-gene disorder. However, evidence suggests that genetic factors play a role in the development of this condition. Several genes have been identified that increase the risk of Hypoplastic Left Heart Syndrome when they are mutated or altered. […] There is limited evidence to suggest that maternal exposure to toxins, such as pesticides and air pollution, may increase the risk of Hypoplastic Left Heart Syndrome in developing fetuses. […] Studies have shown that a lack of oxygen during pregnancy may increase the risk of Hypoplastic Left Heart Syndrome. Hypoxia can occur due to several factors such as altitude, smoking, maternal anemia, or cardiovascular disease. The exact mechanism remains unclear. However, evidence suggests that hypoxia may affect the normal development of the embryonic heart, which can result in congenital heart defects such as Hypoplastic Left Heart Syndrome.

• #35 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Detailed analysis conducted on the HLHS mouse line named Ohia showed the LV hypoplasia arises early in development, around E11.5-12.5, prior to completion of development of the four-chamber heart. […] Recovery of the mutations in the Ohia mouse line by whole exome sequencing and further genotype-phenotype analysis revealed a digenic etiology with mutations in two genes causing HLHS: Sin3A associated protein 130 or Sap130, a chromatin modifying protein in the Sin3A containing HDAC repressor complex and Pcdha9, protocadherin A9 cell adhesion protein. […] Neither gene was known to cause HLHS previously. […] The role of these two mutations in causing HLHS was confirmed with the replication of the HLHS phenotype in mice with the CRISPR gene edited Sap130/Pcdha9 alleles. […] Interestingly, analysis of each mutation separately showed the Sap130 mutation likely drives the hypoplastic LV phenotype, while the Pcdha9 mutation may contribute to the aorta/aortic valve defect phenotypes.

• #36 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Detailed analysis conducted on the HLHS mouse line named Ohia showed the LV hypoplasia arises early in development, around E11.5-12.5, prior to completion of development of the four-chamber heart. […] Recovery of the mutations in the Ohia mouse line by whole exome sequencing and further genotype-phenotype analysis revealed a digenic etiology with mutations in two genes causing HLHS: Sin3A associated protein 130 or Sap130, a chromatin modifying protein in the Sin3A containing HDAC repressor complex and Pcdha9, protocadherin A9 cell adhesion protein. […] Neither gene was known to cause HLHS previously. […] The role of these two mutations in causing HLHS was confirmed with the replication of the HLHS phenotype in mice with the CRISPR gene edited Sap130/Pcdha9 alleles. […] Interestingly, analysis of each mutation separately showed the Sap130 mutation likely drives the hypoplastic LV phenotype, while the Pcdha9 mutation may contribute to the aorta/aortic valve defect phenotypes.

• #37 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Thus, the Pcdha9 mutation can give rise to BAV, a phenotype that also can be seen in the Ohia HLHS mutant mice harboring mutations in both Sap130 and Pcdha9. […] These observations suggest HLHS is a phenotype constructed in a modular or combinatorial fashion. […] Integration of the mouse and human findings point to HLHS as having an obligate oligogenic etiology and with broad genetic heterogeneity.

• #38 Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10010598/

  Thus, the Pcdha9 mutation can give rise to BAV, a phenotype that also can be seen in the Ohia HLHS mutant mice harboring mutations in both Sap130 and Pcdha9. […] These observations suggest HLHS is a phenotype constructed in a modular or combinatorial fashion. […] Integration of the mouse and human findings point to HLHS as having an obligate oligogenic etiology and with broad genetic heterogeneity.

• #39 Hypoplastic Left Heart Syndrome (HLHS) | Prognosis & Treatment | Children’s Wisconsin

  https://childrenswi.org/medical-care/herma-heart/conditions/hypoplastic-left-heart-syndrome

  Hypoplastic left heart syndrome (HLHS) is a combination of several abnormalities of the heart and great blood vessels. It is a congenital syndrome, meaning that the heart defects occur due to abnormal underdevelopment of sections of the fetal heart during the first 8 weeks of pregnancy. […] Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. In hypoplastic left heart syndrome, there may be abnormalities of other organs, such as diaphragmatic hernia, omphalocele, and hypospadias. […] In many children, HLHS occurs sporadically (by chance), with no clear reason evident for their development.

• #40 Hypoplastic Left Heart Syndrome (HLHS) in Children | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/hypoplastic-left-heart-syndrome-hlhs-children

  Hypoplastic left heart syndrome (HLHS) is a group of defects of the heart and large blood vessels. A child is born with this condition (congenital heart defect). It occurs when part of the heart doesn’t develop as it should during the first 8 weeks of pregnancy. […] In many children, HLHS occurs by chance. There is no clear reason for its development.

• #41 Hypoplastic Left Heart Syndrome (HLHS): Overview and Hybrid Treatment | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/hypoplastic-left-heart-syndrome

  In most cases, parents have no control over their babys condition and have not done anything to cause the problem. […] In many cases, the cause of congenital heart defects is unknown.

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