Materiały źródłowe

• #1 Bicuspid Aortic Valve

  https://my.clevelandclinic.org/health/diseases/16780-bicuspid-aortic-valve-disease

  A bicuspid aortic valve is an aortic valve that has two cusps (flaps) instead of the usual three. Its the most common congenital heart defect and affects up to 2% of the population. […] Bicuspid aortic valve disease is a congenital (present at birth) heart condition. It means your aortic valve (between your heart and your aorta) only has two flaps or cusps instead of the typical three. […] Researchers dont know what causes a bicuspid aortic valve to form. Its the most common congenital (present at birth) heart condition. It develops early in pregnancy. […] A bicuspid aortic valve can run in families. If a close biological family member (parent, child or sibling) has this heart issue, talk with your healthcare provider. […] Without treatment, bicuspid aortic valve disease can lead to serious complications. These include heart failure. Aortic valve stenosis forces your heart to work harder to push blood through your valve. […] About 1 in 3 people who have a bicuspid aortic valve also have a dilated (enlarged) aorta above their valve. As your aorta gets bigger, its walls lose their strength and stretch out of shape. Eventually, this can cause an aortic aneurysm (bulging of the aorta) to form.

• #2 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4278157/

  The bicuspid aortic valve (BAV) is the most common form of inheritable cardiac defect. […] Unfortunately, the etiology of BAV valvulopathy and aortopathy is still a debated issue. […] While the genetic root of the BAV malformation has been clearly demonstrated, the etiology of BAV disease is still a matter of debate. […] The less popular hemodynamic theory considers the mechanical stresses produced by the abnormal valve anatomy as the driving factor of secondary valvulopathy and aortopathy. […] Despite those observations, the validation of the hemodynamic etiology of BAV disease requires demonstration of causality, which to date has been lacking. […] Collectively, those observations support a hemodynamic etiology by which the abnormal mechanical stresses experienced by BAV leaflets and BAV ascending aortas could trigger molecular pathways leading to the progressive calcification of the leaflets and the weakening of the aortic wall. […] In summary, evidence for the causative effects of BAV hemodynamics on secondary valvulopathy and aortopathy is emerging.

• #3 Bicuspid Aortic Valve Syndrome | Signs & Symptoms | Marfan Foundation

  https://marfan.org/conditions/bicuspid-aortic-valve/

  Bicuspid aortic valve is one of the most common congenital heart defects, appearing in 4.6 of every 1,000 live births. […] Bicuspid aortic valve is a defect in the heart’s aortic valve that is present at birth (congenital). The exact cause of bicuspid aortic valve is not known, but some medical experts suggest it may be caused by a connective tissue condition similar to that which causes the heart and blood vessel problems in Marfan syndrome. However, the genes that may cause this condition are currently unknown. […] Bicuspid aortic valve is highly heritable, and may be entirely determined by genetics. In large family studies, approximately 9 percent of first degree relatives of the person with a bicuspid aortic valve are found to also have a bicuspid aortic valve. This suggests an autosomal dominant inheritance (only need to get the altered gene from one parent) with a variable expression (range of features). However, the gene(s) that may cause this condition is currently unknown.

• #4 Bicuspid Aortic Valve (BAV) | Frankel Cardiovascular Center | Michigan Medicine

  https://www.umcvc.org/conditions-treatments/bicuspid-aortic-valve-bav

  Bicuspid aortic valve (BAV) is a genetic condition that causes the aortic valve to have two leaflets instead of three. […] Researchers are not sure what causes BAV, but they believe it is inherited. Bicuspid aortic valve is also associated with genetic connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome. […] Approximately 1% to 2% of the population have BAV. It is twice as common in males.

• #5 Bicuspid Aortic Valve: Diagnosis, Treatment, and Outlook

  https://www.healthline.com/health/heart-disease/bicuspid-aortic-valve

  A bicuspid aortic valve is present at birth, but its unclear why some babies are born with it. Researchers are looking for specific gene mutations that may be associated with bicuspid aortic valve disease since the condition tends to run in families. […] A birthing parents exposure to serious infection or certain powerful medications, like antiepileptic drugs, may also raise the risk of congenital valve disease, according to 2014 research. […] A 2019 report suggests that bicuspid aortic valve disease is the most common congenital heart valve problem, affecting between 0.5 and 2 percent of the general population. Males are about twice as likely as females to develop the condition. […] Bicuspid aortic valve can run in families. If youre diagnosed with a bicuspid aortic valve, any of your first degree family members (parents, siblings, or children) should be screened with an echocardiogram once to assess how their valve looks.

• #6 Bicuspid aortic valve | Altru Health System

  https://www.altru.org/health-library/conditions/bicuspid-aortic-valve

  Bicuspid aortic valve is a heart condition present at birth. That means it is a congenital heart defect. […] Bicuspid aortic valve happens while the unborn baby, also called a fetus, is growing during pregnancy. Healthcare professionals aren’t sure what causes most congenital heart defects, including bicuspid aortic valve. But genetics may play a role in causing bicuspid aortic valve. […] A family history of early heart disease may increase the risk of developing heart valve disease such as bicuspid aortic valve. Sometimes bicuspid aortic valve runs in families, which means it is inherited.

• #7 Bicuspid aortic valve Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/bicuspid-aortic-valve

  A bicuspid aortic valve (BAV) is an aortic valve that only has two leaflets, instead of three. […] BAV is present at birth (congenital). An abnormal aortic valve develops during the early weeks of pregnancy, when the baby’s heart is developing. The cause of this problem is unclear, but it is the most common congenital heart defect. BAV often runs in families. […] BAV is more common among males than females. […] BAV runs in families. If you know of this condition in your family, speak to your provider before becoming pregnant. There is no known way to prevent the condition.

• #8 Bicuspid Aortic Valve Causes, Symptoms, Treatments

  https://www.upmc.com/services/heart-vascular/conditions/bicuspid-aortic-valve

  Bicuspid aortic valve disease is a heart condition you’re born with. It occurs in 1-2% of people. […] A bicuspid aortic valve is a congenital abnormality of the aortic valve, occurring in 1-2% of the population from birth. The aortic valve typically has 3 leaflets. In bicuspid aortic valves, 2 of the leaflets fuse in the womb, resulting in only 2 leaflets at birth. […] The exact cause of bicuspid aortic valve disease is unknown. Bicuspid aortic valve can be inherited. This means that it can have a genetic cause and be passed down in families, but it is not always genetic. It occurs in up to 25% of first-degree relatives of people with a bicuspid valve. […] In the early stages of pregnancy, as the aortic valve is developing, two of the three leaflets, or flaps, fuse together. This results in two leaflets instead of three.

• #9 Bicuspid Aortic Valve (BAV) | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/bicuspid-aortic-valve

  Bicuspid aortic valve disease (BAV) is caused when the third leaflet of the aortic valve does not develop properly. Two leaflets are stuck together causing the value to open and close abnormally. […] The fusion (sticking together) of the valve leaflets causes abnormal valve opening and closing. If the valve does not close completely, blood can leak into the heart. […] Bicuspid aortic valves may also be associated with enlargement of aortic root (first section of the aorta) and enlargement of left ventricle (pumping chamber).

• #10 Bicuspid aortic valve – Wikipedia

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

  BAV is normally inherited. […] Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. […] Its heritability ( h 2) is as high as 89%. […] Both familial clustering and isolated valve defects have been documented. […] Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. […] Coarctation of the aorta (a congenital narrowing in the region of the ductus arteriosus) has also been associated with BAV.

• #11 Bicuspid Aortic Valve Syndrome | Signs & Symptoms | Marfan Foundation

  https://marfan.org/conditions/bicuspid-aortic-valve/

  Bicuspid aortic valve is one of the most common congenital heart defects, appearing in 4.6 of every 1,000 live births. […] Bicuspid aortic valve is a defect in the heart’s aortic valve that is present at birth (congenital). The exact cause of bicuspid aortic valve is not known, but some medical experts suggest it may be caused by a connective tissue condition similar to that which causes the heart and blood vessel problems in Marfan syndrome. However, the genes that may cause this condition are currently unknown. […] Bicuspid aortic valve is highly heritable, and may be entirely determined by genetics. In large family studies, approximately 9 percent of first degree relatives of the person with a bicuspid aortic valve are found to also have a bicuspid aortic valve. This suggests an autosomal dominant inheritance (only need to get the altered gene from one parent) with a variable expression (range of features). However, the gene(s) that may cause this condition is currently unknown.

• #12 Bicuspid aortic valve – Wikipedia

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

  BAV is normally inherited. […] Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. […] Its heritability ( h 2) is as high as 89%. […] Both familial clustering and isolated valve defects have been documented. […] Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. […] Coarctation of the aorta (a congenital narrowing in the region of the ductus arteriosus) has also been associated with BAV.

• #13

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  In particular, for CAVD in BAV, it is uncertain whether abnormalities noted in clinically removed BAV tissues are primary or secondary, and what are the key differences that account for the accelerated and nearly ubiquitous formation of CAVD in the context of BAV. […] A fundamental question is whether and to what extent the biological processes leading to valve calcification are different in BAV versus TAV. […] Familial clustering of BAV and left ventricular OFT malformations has been associated with NOTCH1 receptor mutations. […] Notch receptors (NOTCH1-4 in mammals) interact with membrane ligands from neighbouring cells such as the delta-like (DLL1, 3, 4) and Jagged proteins (JAG1, 2). […] Hence, it is possible that complex interplay between GATA5, eNOS, Notch and Wnt/Lrp5 may promote early mineralisation of the aortic valve in BAV. […] The morbidity of BAV is likely determined by genetic susceptibility, abnormal solid and fluid mechanical forces imposed on the aortic valve/aorta, and perhaps environmental risk factors.

• #14 Bicuspid aortic valve – Wikipedia

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

  BAV is normally inherited. […] Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. […] Its heritability ( h 2) is as high as 89%. […] Both familial clustering and isolated valve defects have been documented. […] Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. […] Coarctation of the aorta (a congenital narrowing in the region of the ductus arteriosus) has also been associated with BAV.

• #15

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  In particular, for CAVD in BAV, it is uncertain whether abnormalities noted in clinically removed BAV tissues are primary or secondary, and what are the key differences that account for the accelerated and nearly ubiquitous formation of CAVD in the context of BAV. […] A fundamental question is whether and to what extent the biological processes leading to valve calcification are different in BAV versus TAV. […] Familial clustering of BAV and left ventricular OFT malformations has been associated with NOTCH1 receptor mutations. […] Notch receptors (NOTCH1-4 in mammals) interact with membrane ligands from neighbouring cells such as the delta-like (DLL1, 3, 4) and Jagged proteins (JAG1, 2). […] Hence, it is possible that complex interplay between GATA5, eNOS, Notch and Wnt/Lrp5 may promote early mineralisation of the aortic valve in BAV. […] The morbidity of BAV is likely determined by genetic susceptibility, abnormal solid and fluid mechanical forces imposed on the aortic valve/aorta, and perhaps environmental risk factors.

• #16

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  In particular, for CAVD in BAV, it is uncertain whether abnormalities noted in clinically removed BAV tissues are primary or secondary, and what are the key differences that account for the accelerated and nearly ubiquitous formation of CAVD in the context of BAV. […] A fundamental question is whether and to what extent the biological processes leading to valve calcification are different in BAV versus TAV. […] Familial clustering of BAV and left ventricular OFT malformations has been associated with NOTCH1 receptor mutations. […] Notch receptors (NOTCH1-4 in mammals) interact with membrane ligands from neighbouring cells such as the delta-like (DLL1, 3, 4) and Jagged proteins (JAG1, 2). […] Hence, it is possible that complex interplay between GATA5, eNOS, Notch and Wnt/Lrp5 may promote early mineralisation of the aortic valve in BAV. […] The morbidity of BAV is likely determined by genetic susceptibility, abnormal solid and fluid mechanical forces imposed on the aortic valve/aorta, and perhaps environmental risk factors.

• #17 Bicuspid Aortic Valve Causes and Diagnoses | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/heart-and-vascular/conditions-and-treatments/bicuspid-aortic-valve/causes-and-diagnoses

  While it is the most common congenital heart disorder, the cause of bicuspid aortic valve (BAV) is not completely clear. […] BAV develops early in fetal development and is present when a baby is born. […] If a family member has been diagnosed with BAV there is a nine percent chance of additional family members having BAV as well. […] Current recommendations are for all first-degree relatives (parents, siblings, children) of someone diagnosed with BAV to be screened. Early diagnosis of BAV allows the patient to be followed prior to the disease causing symptoms and complications.

• #18 Bicuspid Aortic Valve Syndrome | Signs & Symptoms | Marfan Foundation

  https://marfan.org/conditions/bicuspid-aortic-valve/

  Bicuspid aortic valve is one of the most common congenital heart defects, appearing in 4.6 of every 1,000 live births. […] Bicuspid aortic valve is a defect in the heart’s aortic valve that is present at birth (congenital). The exact cause of bicuspid aortic valve is not known, but some medical experts suggest it may be caused by a connective tissue condition similar to that which causes the heart and blood vessel problems in Marfan syndrome. However, the genes that may cause this condition are currently unknown. […] Bicuspid aortic valve is highly heritable, and may be entirely determined by genetics. In large family studies, approximately 9 percent of first degree relatives of the person with a bicuspid aortic valve are found to also have a bicuspid aortic valve. This suggests an autosomal dominant inheritance (only need to get the altered gene from one parent) with a variable expression (range of features). However, the gene(s) that may cause this condition is currently unknown.

• #19 Bicuspid Aortic Valve Causes, Symptoms, Treatments

  https://www.upmc.com/services/heart-vascular/conditions/bicuspid-aortic-valve

  Bicuspid aortic valve disease is a heart condition you’re born with. It occurs in 1-2% of people. […] A bicuspid aortic valve is a congenital abnormality of the aortic valve, occurring in 1-2% of the population from birth. The aortic valve typically has 3 leaflets. In bicuspid aortic valves, 2 of the leaflets fuse in the womb, resulting in only 2 leaflets at birth. […] The exact cause of bicuspid aortic valve disease is unknown. Bicuspid aortic valve can be inherited. This means that it can have a genetic cause and be passed down in families, but it is not always genetic. It occurs in up to 25% of first-degree relatives of people with a bicuspid valve. […] In the early stages of pregnancy, as the aortic valve is developing, two of the three leaflets, or flaps, fuse together. This results in two leaflets instead of three.

• #20 Bicuspid Aortic Valve (BAV) | Frankel Cardiovascular Center | Michigan Medicine

  https://www.umcvc.org/conditions-treatments/bicuspid-aortic-valve-bav

  Bicuspid aortic valve (BAV) is a genetic condition that causes the aortic valve to have two leaflets instead of three. […] Researchers are not sure what causes BAV, but they believe it is inherited. Bicuspid aortic valve is also associated with genetic connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome. […] Approximately 1% to 2% of the population have BAV. It is twice as common in males.

• #21 Bicuspid Aortic Valve (BAV) | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/bicuspid-aortic-valve-bav

  Bicuspid aortic valve (BAV) is a genetic condition that causes the aortic valve to have two leaflets instead of three. […] Researchers are not sure what causes BAV, but they believe it is inherited. Bicuspid aortic valve is also associated with genetic connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome.

• #22 Bicuspid Aortic Valve Syndrome | Signs & Symptoms | Marfan Foundation

  https://marfan.org/conditions/bicuspid-aortic-valve/

  Bicuspid aortic valve is one of the most common congenital heart defects, appearing in 4.6 of every 1,000 live births. […] Bicuspid aortic valve is a defect in the heart’s aortic valve that is present at birth (congenital). The exact cause of bicuspid aortic valve is not known, but some medical experts suggest it may be caused by a connective tissue condition similar to that which causes the heart and blood vessel problems in Marfan syndrome. However, the genes that may cause this condition are currently unknown. […] Bicuspid aortic valve is highly heritable, and may be entirely determined by genetics. In large family studies, approximately 9 percent of first degree relatives of the person with a bicuspid aortic valve are found to also have a bicuspid aortic valve. This suggests an autosomal dominant inheritance (only need to get the altered gene from one parent) with a variable expression (range of features). However, the gene(s) that may cause this condition is currently unknown.

• #23 Bicuspid Aortic Valve (BAV) | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/bicuspid-aortic-valve-bav

  Bicuspid aortic valve (BAV) is a genetic condition that causes the aortic valve to have two leaflets instead of three. […] Researchers are not sure what causes BAV, but they believe it is inherited. Bicuspid aortic valve is also associated with genetic connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome.

• #24 Bicuspid Aortic Valve (BAV) | Frankel Cardiovascular Center | Michigan Medicine

  https://www.umcvc.org/conditions-treatments/bicuspid-aortic-valve-bav

  Bicuspid aortic valve (BAV) is a genetic condition that causes the aortic valve to have two leaflets instead of three. […] Researchers are not sure what causes BAV, but they believe it is inherited. Bicuspid aortic valve is also associated with genetic connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome. […] Approximately 1% to 2% of the population have BAV. It is twice as common in males.

• #25 Bicuspid Aortic Valve (BAV) | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/bicuspid-aortic-valve-bav

  Bicuspid aortic valve (BAV) is a genetic condition that causes the aortic valve to have two leaflets instead of three. […] Researchers are not sure what causes BAV, but they believe it is inherited. Bicuspid aortic valve is also associated with genetic connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome.

• #26 Bicuspid Aortic Valve: Symptoms & Treatment | Mass General Brigham

  https://www.massgeneralbrigham.org/en/patient-care/services-and-specialties/heart/conditions/bicuspid-aortic-valve

  Bicuspid aortic valve is a congenital heart abnormality that people are born with. The causes of congenital bicuspid aortic valve are unknown. However, it has a hereditary component, even if bicuspid aortic valve genetics are still somewhat unclear. […] It’s unclear if the bicuspid aortic valve is inherited from the mother or father, but we know that a bicuspid aortic valve is hereditary. […] A genetic disorder called Turner syndrome affects women who are missing one of their X chromosomes. When this happens, they can have a variety of developmental problems, including a bicuspid aortic valve.

• #27 Bicuspid aortic valve (BAV): Complications and treatment

  https://www.medicalnewstoday.com/articles/bicuspid-aortic-valve

  BAV is a common congenital heart condition, affecting 0.52% of adults with a 3-1, male-to-female prevalence. […] Researchers do not yet understand the exact cause of BAV. It can run in families. The inheritance pattern is variable but might be autosomal dominant, which means only one parent needs just one copy of the gene that causes BAV to pass it to their child. It can also occur sporadically, without any familial relation. […] BAV can also occur alongside other conditions. Around 30% of people with Turner syndrome, William syndrome, and ventricular septal defect also have BAV.

• #28 Bicuspid aortic valve (BAV): Complications and treatment

  https://www.medicalnewstoday.com/articles/bicuspid-aortic-valve

  BAV is a common congenital heart condition, affecting 0.52% of adults with a 3-1, male-to-female prevalence. […] Researchers do not yet understand the exact cause of BAV. It can run in families. The inheritance pattern is variable but might be autosomal dominant, which means only one parent needs just one copy of the gene that causes BAV to pass it to their child. It can also occur sporadically, without any familial relation. […] BAV can also occur alongside other conditions. Around 30% of people with Turner syndrome, William syndrome, and ventricular septal defect also have BAV.

• #29 Bicuspid aortic valve – Wikipedia

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

  BAV is normally inherited. […] Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. […] Its heritability ( h 2) is as high as 89%. […] Both familial clustering and isolated valve defects have been documented. […] Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. […] Coarctation of the aorta (a congenital narrowing in the region of the ductus arteriosus) has also been associated with BAV.

• #30 Bicuspid Aortic Valve: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/893523-overview

  Bicuspid aortic valve is a common congenital anomaly but does not cause functional problems unless aortic valve stenosis, aortic valve regurgitation, aortic root dilatation, or dissection or infective endocarditis occurs. […] Bicuspid aortic valve is often observed with other left-sided obstructive lesions such as coarctation of the aorta or interrupted aortic arch, suggesting a common developmental mechanism. […] Specific gene mutations have been isolated. […] Approximately 50% of adults with severe aortic stenosis have a congenitally bicuspid valve. […] Historically, rheumatic fever was the most common cause of aortic stenosis. […] With significantly decreasing incidence of rheumatic fever in developed nations, bicuspid aortic valve is the most common cause of aortic stenosis in adults and is probably the most common etiology of valve insufficiency as well.

• #31 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4278157/

  The bicuspid aortic valve (BAV) is the most common form of inheritable cardiac defect. […] Unfortunately, the etiology of BAV valvulopathy and aortopathy is still a debated issue. […] While the genetic root of the BAV malformation has been clearly demonstrated, the etiology of BAV disease is still a matter of debate. […] The less popular hemodynamic theory considers the mechanical stresses produced by the abnormal valve anatomy as the driving factor of secondary valvulopathy and aortopathy. […] Despite those observations, the validation of the hemodynamic etiology of BAV disease requires demonstration of causality, which to date has been lacking. […] Collectively, those observations support a hemodynamic etiology by which the abnormal mechanical stresses experienced by BAV leaflets and BAV ascending aortas could trigger molecular pathways leading to the progressive calcification of the leaflets and the weakening of the aortic wall. […] In summary, evidence for the causative effects of BAV hemodynamics on secondary valvulopathy and aortopathy is emerging.

• #32 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://www.wjgnet.com/1949-8462/full/v6/i12/1227.htm

  Etiology of bicuspid aortic valve disease: Focus on hemodynamics. The bicuspid aortic valve (BAV) is the most common form of inheritable cardiac defect. […] Unfortunately, the etiology of BAV valvulopathy and aortopathy is still a debated issue. While the BAV anatomy and its secondary complications have been linked historically to a common genetic root, recent advances in medical imaging have demonstrated the existence of altered hemodynamics near BAV leaflets prone to calcification and BAV aortic regions vulnerable to dilation. […] Despite increasing evidence for this hemodynamic etiology, the demonstration of the involvement of mechanical abnormalities in the pathogenesis of BAV disease requires the investigation of causality between the blood flow environment imposed on the leaflets and the aortic wall and the local biology, which has been lacking to date.

• #33 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://www.wjgnet.com/1949-8462/full/v6/i12/1227.htm

  Etiology of bicuspid aortic valve disease: Focus on hemodynamics. The bicuspid aortic valve (BAV) is the most common form of inheritable cardiac defect. […] Unfortunately, the etiology of BAV valvulopathy and aortopathy is still a debated issue. While the BAV anatomy and its secondary complications have been linked historically to a common genetic root, recent advances in medical imaging have demonstrated the existence of altered hemodynamics near BAV leaflets prone to calcification and BAV aortic regions vulnerable to dilation. […] Despite increasing evidence for this hemodynamic etiology, the demonstration of the involvement of mechanical abnormalities in the pathogenesis of BAV disease requires the investigation of causality between the blood flow environment imposed on the leaflets and the aortic wall and the local biology, which has been lacking to date.

• #34 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://www.wjgnet.com/1949-8462/full/v6/i12/1227.htm

  While the genetic root of the BAV malformation has been clearly demonstrated, the etiology of BAV disease is still a matter of debate. […] The less popular hemodynamic theory considers the mechanical stresses produced by the abnormal valve anatomy as the driving factor of secondary valvulopathy and aortopathy. […] Despite those observations, the validation of the hemodynamic etiology of BAV disease requires demonstration of causality, which to date has been lacking. […] Collectively, those observations support a hemodynamic etiology by which the abnormal mechanical stresses experienced by BAV leaflets and BAV ascending aortas could trigger molecular pathways leading to the progressive calcification of the leaflets and the weakening of the aortic wall. […] The amplification of the degree of hemodynamic abnormality caused by the gradual stiffening of the leaflets and dilation of the proximal aorta may result in turn in the amplification of the pathological cascade and the acceleration of the disease process. […] In summary, evidence for the causative effects of BAV hemodynamics on secondary valvulopathy and aortopathy is emerging.

• #35 Bicuspid Aortic Valve (BAV) – GenTAC Alliance

  https://www.gentacalliance.org/conditions/bicuspid-aortic-valve-bav/

  Bicuspid aortic valve (BAV) is a condition in which a person is born with an aortic valve with two aortic valve cusps, or leaflets, instead of the normal three cusps. […] BAV is one of the most common congenital heart valve disorders (present at birth) and occurs in about 1 out of every 100 births. […] In some people, the bicuspid aortic valve is also associated with thoracic aortic aneurysm disease. […] There are different reasons why a BAV can lead to the development of an aortic aneurysm. First is the hemodynamic theory; the abnormal shape of the BAV leads to increased turbulence of the blood being pumped from the heart into the aorta. […] Another theory for why BAV may be associated with aneurysms of the aortic root and/or ascending aorta is known as the genetic theory. […] In some families, BAV and aortic root and/or ascending aortic aneurysm run in the family.

• #36 Bicuspid Aortic Valve (BAV) – GenTAC Alliance

  https://www.gentacalliance.org/conditions/bicuspid-aortic-valve-bav/

  Bicuspid aortic valve (BAV) is a condition in which a person is born with an aortic valve with two aortic valve cusps, or leaflets, instead of the normal three cusps. […] BAV is one of the most common congenital heart valve disorders (present at birth) and occurs in about 1 out of every 100 births. […] In some people, the bicuspid aortic valve is also associated with thoracic aortic aneurysm disease. […] There are different reasons why a BAV can lead to the development of an aortic aneurysm. First is the hemodynamic theory; the abnormal shape of the BAV leads to increased turbulence of the blood being pumped from the heart into the aorta. […] Another theory for why BAV may be associated with aneurysms of the aortic root and/or ascending aorta is known as the genetic theory. […] In some families, BAV and aortic root and/or ascending aortic aneurysm run in the family.

• #37 ACHA Q&A: Bicuspid Aortic Valve (BAV) – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/bicuspid-aortic-valve-bav/

  BAV is one of the most common heart defects. It occurs in 1% – 2% of the population. It is more common in males than females. […] The exact cause is not known. It can occur spontaneously or run in families. Not every family member will have it. If you have BAV, your parents, siblings, and children should consider being screened. Medical experts now suggest that BAV may be associated with a connective tissue disorder similar to that found in people with Marfan Syndrome. […] There are two reasons for aortic problems. The first is because of something inherently abnormal in the wall of the aorta. When the aortic wall forms, something genetic causes abnormal features of the vessel. In turn, it becomes weaker and more prone to stretch. External forces also affect the vessel wall. These include the way that blood flows out of the aortic valve and the pressure it puts on the vessel wall. This leads to progressive aortic enlargement. […] If you or a family member have BAV, it is recommended that your children and other first-degree relatives be screened for BAV and for aortic dilation.

• #38 Bicuspid Aortic Valve (BAV) – GenTAC Alliance

  https://www.gentacalliance.org/conditions/bicuspid-aortic-valve-bav/

  Bicuspid aortic valve (BAV) is a condition in which a person is born with an aortic valve with two aortic valve cusps, or leaflets, instead of the normal three cusps. […] BAV is one of the most common congenital heart valve disorders (present at birth) and occurs in about 1 out of every 100 births. […] In some people, the bicuspid aortic valve is also associated with thoracic aortic aneurysm disease. […] There are different reasons why a BAV can lead to the development of an aortic aneurysm. First is the hemodynamic theory; the abnormal shape of the BAV leads to increased turbulence of the blood being pumped from the heart into the aorta. […] Another theory for why BAV may be associated with aneurysms of the aortic root and/or ascending aorta is known as the genetic theory. […] In some families, BAV and aortic root and/or ascending aortic aneurysm run in the family.

• #39 ACHA Q&A: Bicuspid Aortic Valve (BAV) – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/bicuspid-aortic-valve-bav/

  BAV is one of the most common heart defects. It occurs in 1% – 2% of the population. It is more common in males than females. […] The exact cause is not known. It can occur spontaneously or run in families. Not every family member will have it. If you have BAV, your parents, siblings, and children should consider being screened. Medical experts now suggest that BAV may be associated with a connective tissue disorder similar to that found in people with Marfan Syndrome. […] There are two reasons for aortic problems. The first is because of something inherently abnormal in the wall of the aorta. When the aortic wall forms, something genetic causes abnormal features of the vessel. In turn, it becomes weaker and more prone to stretch. External forces also affect the vessel wall. These include the way that blood flows out of the aortic valve and the pressure it puts on the vessel wall. This leads to progressive aortic enlargement. […] If you or a family member have BAV, it is recommended that your children and other first-degree relatives be screened for BAV and for aortic dilation.

• #40

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  In particular, for CAVD in BAV, it is uncertain whether abnormalities noted in clinically removed BAV tissues are primary or secondary, and what are the key differences that account for the accelerated and nearly ubiquitous formation of CAVD in the context of BAV. […] A fundamental question is whether and to what extent the biological processes leading to valve calcification are different in BAV versus TAV. […] Familial clustering of BAV and left ventricular OFT malformations has been associated with NOTCH1 receptor mutations. […] Notch receptors (NOTCH1-4 in mammals) interact with membrane ligands from neighbouring cells such as the delta-like (DLL1, 3, 4) and Jagged proteins (JAG1, 2). […] Hence, it is possible that complex interplay between GATA5, eNOS, Notch and Wnt/Lrp5 may promote early mineralisation of the aortic valve in BAV. […] The morbidity of BAV is likely determined by genetic susceptibility, abnormal solid and fluid mechanical forces imposed on the aortic valve/aorta, and perhaps environmental risk factors.

• #41 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://www.wjgnet.com/1949-8462/full/v6/i12/1227.htm

  While the genetic root of the BAV malformation has been clearly demonstrated, the etiology of BAV disease is still a matter of debate. […] The less popular hemodynamic theory considers the mechanical stresses produced by the abnormal valve anatomy as the driving factor of secondary valvulopathy and aortopathy. […] Despite those observations, the validation of the hemodynamic etiology of BAV disease requires demonstration of causality, which to date has been lacking. […] Collectively, those observations support a hemodynamic etiology by which the abnormal mechanical stresses experienced by BAV leaflets and BAV ascending aortas could trigger molecular pathways leading to the progressive calcification of the leaflets and the weakening of the aortic wall. […] The amplification of the degree of hemodynamic abnormality caused by the gradual stiffening of the leaflets and dilation of the proximal aorta may result in turn in the amplification of the pathological cascade and the acceleration of the disease process. […] In summary, evidence for the causative effects of BAV hemodynamics on secondary valvulopathy and aortopathy is emerging.

• #42

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  Bicuspid aortic valve is the most prevalent cardiac valvular malformation. […] The development of aortic valve disease and thoracic aortic aneurysm and dissection is the result of complex interactions between genotypes, environmental risk factors and specific haemodynamic conditions created by bicuspid aortic valve anatomy. […] BAVs usually exhibit normal function at birth and during early life, but can be associated with significant aortic valve disease prior adulthood. […] The increased propensity of BAV to calcific aortic valve disease (CAVD), relative to valves with a normal 3-leaflet configuration, is underscored by the data that calcified BAVs comprise 30-50% of cases of operated aortic stenosis in adults. […] Studies in eNOS/ mice and an inbred Syrian hamsters suggest that the aetiologies of RN and RL BAVs appear to be distinct with the RN BAV being caused by defective formation of the outflow tract (OFT) cushion whereas the RL BAV is likely the result of defective OFT septation.

• #43

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  Bicuspid aortic valve is the most prevalent cardiac valvular malformation. […] The development of aortic valve disease and thoracic aortic aneurysm and dissection is the result of complex interactions between genotypes, environmental risk factors and specific haemodynamic conditions created by bicuspid aortic valve anatomy. […] BAVs usually exhibit normal function at birth and during early life, but can be associated with significant aortic valve disease prior adulthood. […] The increased propensity of BAV to calcific aortic valve disease (CAVD), relative to valves with a normal 3-leaflet configuration, is underscored by the data that calcified BAVs comprise 30-50% of cases of operated aortic stenosis in adults. […] Studies in eNOS/ mice and an inbred Syrian hamsters suggest that the aetiologies of RN and RL BAVs appear to be distinct with the RN BAV being caused by defective formation of the outflow tract (OFT) cushion whereas the RL BAV is likely the result of defective OFT septation.

• #44 Bicuspid Aortic Valve | Saint Luke’s Health System

  https://www.saintlukeskc.org/condition/bicuspid-aortic-valve

  Bicuspid aortic valve is a type of abnormality in the aortic valve in the heart. […] No one knows exactly what causes most cases of bicuspid aortic valve. Researchers think that some types of inherited disorders can be linked to bicuspid aortic valve disease. […] Bicuspid aortic valve tends to run in families. So it may result from a gene defect. […] It might also happen if a mother is exposed to certain infections or medicines while pregnant. […] Certain factors can make acquired bicuspid aortic valve more likely to have problems. Some of these are: High cholesterol levels, High blood pressure, Smoking, Chronic kidney disease.

• #45 Bicuspid Aortic Valve: Diagnosis, Treatment, and Outlook

  https://www.healthline.com/health/heart-disease/bicuspid-aortic-valve

  A bicuspid aortic valve is present at birth, but its unclear why some babies are born with it. Researchers are looking for specific gene mutations that may be associated with bicuspid aortic valve disease since the condition tends to run in families. […] A birthing parents exposure to serious infection or certain powerful medications, like antiepileptic drugs, may also raise the risk of congenital valve disease, according to 2014 research. […] A 2019 report suggests that bicuspid aortic valve disease is the most common congenital heart valve problem, affecting between 0.5 and 2 percent of the general population. Males are about twice as likely as females to develop the condition. […] Bicuspid aortic valve can run in families. If youre diagnosed with a bicuspid aortic valve, any of your first degree family members (parents, siblings, or children) should be screened with an echocardiogram once to assess how their valve looks.

• #46 Bicuspid Aortic Valve | Saint Luke’s Health System

  https://www.saintlukeskc.org/condition/bicuspid-aortic-valve

  Bicuspid aortic valve is a type of abnormality in the aortic valve in the heart. […] No one knows exactly what causes most cases of bicuspid aortic valve. Researchers think that some types of inherited disorders can be linked to bicuspid aortic valve disease. […] Bicuspid aortic valve tends to run in families. So it may result from a gene defect. […] It might also happen if a mother is exposed to certain infections or medicines while pregnant. […] Certain factors can make acquired bicuspid aortic valve more likely to have problems. Some of these are: High cholesterol levels, High blood pressure, Smoking, Chronic kidney disease.

• #47 Bicuspid Aortic Valve: Diagnosis, Treatment, and Outlook

  https://www.healthline.com/health/heart-disease/bicuspid-aortic-valve

  A bicuspid aortic valve is present at birth, but its unclear why some babies are born with it. Researchers are looking for specific gene mutations that may be associated with bicuspid aortic valve disease since the condition tends to run in families. […] A birthing parents exposure to serious infection or certain powerful medications, like antiepileptic drugs, may also raise the risk of congenital valve disease, according to 2014 research. […] A 2019 report suggests that bicuspid aortic valve disease is the most common congenital heart valve problem, affecting between 0.5 and 2 percent of the general population. Males are about twice as likely as females to develop the condition. […] Bicuspid aortic valve can run in families. If youre diagnosed with a bicuspid aortic valve, any of your first degree family members (parents, siblings, or children) should be screened with an echocardiogram once to assess how their valve looks.

• #48 Bicuspid Aortic Valve | Saint Luke’s Health System

  https://www.saintlukeskc.org/condition/bicuspid-aortic-valve

  Bicuspid aortic valve is a type of abnormality in the aortic valve in the heart. […] No one knows exactly what causes most cases of bicuspid aortic valve. Researchers think that some types of inherited disorders can be linked to bicuspid aortic valve disease. […] Bicuspid aortic valve tends to run in families. So it may result from a gene defect. […] It might also happen if a mother is exposed to certain infections or medicines while pregnant. […] Certain factors can make acquired bicuspid aortic valve more likely to have problems. Some of these are: High cholesterol levels, High blood pressure, Smoking, Chronic kidney disease.

• #49 Bicuspid Aortic Valve: Diagnosis, Treatment, and Outlook

  https://www.healthline.com/health/heart-disease/bicuspid-aortic-valve

  A bicuspid aortic valve is present at birth, but its unclear why some babies are born with it. Researchers are looking for specific gene mutations that may be associated with bicuspid aortic valve disease since the condition tends to run in families. […] A birthing parents exposure to serious infection or certain powerful medications, like antiepileptic drugs, may also raise the risk of congenital valve disease, according to 2014 research. […] A 2019 report suggests that bicuspid aortic valve disease is the most common congenital heart valve problem, affecting between 0.5 and 2 percent of the general population. Males are about twice as likely as females to develop the condition. […] Bicuspid aortic valve can run in families. If youre diagnosed with a bicuspid aortic valve, any of your first degree family members (parents, siblings, or children) should be screened with an echocardiogram once to assess how their valve looks.

• #50 Bicuspid Aortic Valve | Saint Luke’s Health System

  https://www.saintlukeskc.org/condition/bicuspid-aortic-valve

  Bicuspid aortic valve is a type of abnormality in the aortic valve in the heart. […] No one knows exactly what causes most cases of bicuspid aortic valve. Researchers think that some types of inherited disorders can be linked to bicuspid aortic valve disease. […] Bicuspid aortic valve tends to run in families. So it may result from a gene defect. […] It might also happen if a mother is exposed to certain infections or medicines while pregnant. […] Certain factors can make acquired bicuspid aortic valve more likely to have problems. Some of these are: High cholesterol levels, High blood pressure, Smoking, Chronic kidney disease.

• #51

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  Bicuspid aortic valve is the most prevalent cardiac valvular malformation. […] The development of aortic valve disease and thoracic aortic aneurysm and dissection is the result of complex interactions between genotypes, environmental risk factors and specific haemodynamic conditions created by bicuspid aortic valve anatomy. […] BAVs usually exhibit normal function at birth and during early life, but can be associated with significant aortic valve disease prior adulthood. […] The increased propensity of BAV to calcific aortic valve disease (CAVD), relative to valves with a normal 3-leaflet configuration, is underscored by the data that calcified BAVs comprise 30-50% of cases of operated aortic stenosis in adults. […] Studies in eNOS/ mice and an inbred Syrian hamsters suggest that the aetiologies of RN and RL BAVs appear to be distinct with the RN BAV being caused by defective formation of the outflow tract (OFT) cushion whereas the RL BAV is likely the result of defective OFT septation.

• #52 Bicuspid Aortic Valve Causes, Symptoms, Treatments

  https://www.upmc.com/services/heart-vascular/conditions/bicuspid-aortic-valve

  People who have a parent with bicuspid aortic valve are more likely to develop the condition. Males are more likely to develop the condition than females. […] Bicuspid valves are known to deteriorate and develop disease sooner than normal, tri-leaflet aortic valves. People with a bicuspid valve may develop symptoms of aortic valve disease in their middle-age, as early as in their 30s and 40s. […] Bicuspid aortic valve is congenital and often genetic condition, so there is no way you can prevent it.

• #53

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  Bicuspid aortic valve is the most prevalent cardiac valvular malformation. […] The development of aortic valve disease and thoracic aortic aneurysm and dissection is the result of complex interactions between genotypes, environmental risk factors and specific haemodynamic conditions created by bicuspid aortic valve anatomy. […] BAVs usually exhibit normal function at birth and during early life, but can be associated with significant aortic valve disease prior adulthood. […] The increased propensity of BAV to calcific aortic valve disease (CAVD), relative to valves with a normal 3-leaflet configuration, is underscored by the data that calcified BAVs comprise 30-50% of cases of operated aortic stenosis in adults. […] Studies in eNOS/ mice and an inbred Syrian hamsters suggest that the aetiologies of RN and RL BAVs appear to be distinct with the RN BAV being caused by defective formation of the outflow tract (OFT) cushion whereas the RL BAV is likely the result of defective OFT septation.

• #54 What causes a stiff, narrowed aortic valve? – Harvard Health

  https://www.health.harvard.edu/heart-health/what-causes-a-stiff-narrowed-aortic-valve

  „In the United States, the most common cause is a buildup of scar tissue and calcium deposits on the valve, known as fibrocalcific aortic valve disease.” […] „Another, less frequent cause is rheumatic heart disease, a complication of an untreated strep throat infection that, over time, damages a person’s heart valves.” […] „A normal aortic valve has three leaflets, but about one person in 100 is born with an aortic valve that has only two flaps. Known as a bicuspid aortic valve, this defect is two to three times more common in males than females and may run in families.” […] „A two-leaflet valve is more prone to calcium buildup, so people with bicuspid valves can develop aortic stenosis in their 50s and 60s more than a decade earlier than those with normal, tricuspid valves.”

• #55 Bicuspid Aortic Valve

  https://my.clevelandclinic.org/health/diseases/16780-bicuspid-aortic-valve-disease

  A bicuspid aortic valve is an aortic valve that has two cusps (flaps) instead of the usual three. Its the most common congenital heart defect and affects up to 2% of the population. […] Bicuspid aortic valve disease is a congenital (present at birth) heart condition. It means your aortic valve (between your heart and your aorta) only has two flaps or cusps instead of the typical three. […] Researchers dont know what causes a bicuspid aortic valve to form. Its the most common congenital (present at birth) heart condition. It develops early in pregnancy. […] A bicuspid aortic valve can run in families. If a close biological family member (parent, child or sibling) has this heart issue, talk with your healthcare provider. […] Without treatment, bicuspid aortic valve disease can lead to serious complications. These include heart failure. Aortic valve stenosis forces your heart to work harder to push blood through your valve. […] About 1 in 3 people who have a bicuspid aortic valve also have a dilated (enlarged) aorta above their valve. As your aorta gets bigger, its walls lose their strength and stretch out of shape. Eventually, this can cause an aortic aneurysm (bulging of the aorta) to form.

• #56 Bicuspid Aortic Valve: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/893523-overview

  Most cases of severe aortic insufficiency are related, either directly or indirectly, to a congenitally bicuspid valve. […] The risk of developing infective endocarditis on a bicuspid aortic valve is 10-30% over a lifetime. […] Bicuspid aortic valve is the second most common congenital etiology for infective endocarditis in infants and children; overall, approximately 25% of endocarditis infections develop on a bicuspid valve. […] The risk of aortic root dissection is much higher for individuals with Marfan syndrome (approximately 40%) than for those with bicuspid aortic valve (approximately 5%).

• #57 Bicuspid Aortic Valve Symptoms, Diagnosis, & Treatment

  https://myheart.net/articles/bicuspid-aortic-valve/

  Usually the aortic valve has three leaflets; hence it’s called a tricuspid aortic valve. When there are two leaflets only, it is called a bicuspid aortic valve. The two leaflets are typically a result of fusion between two of the original three leaflets. […] Unfortunately patients with bicuspid valve are predisposed to developing tight valves (aortic stenosis), leaky valves (aortic regurgitation) and dilation of the aorta in the chest (thoracic aortic aneurysm). […] A significant number of patients with bicuspid valve have associated development of dilation of the aorta known as an aortic aneurysm. […] About 20-30% of patients with bicuspid aortic valve will have other family members affected. There is no exact genetic cause known, and the inheritance pattern can be very variable although there certainly appears to be a genetic component.

• #58 Bicuspid Aortic Valve: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/893523-overview

  Most cases of severe aortic insufficiency are related, either directly or indirectly, to a congenitally bicuspid valve. […] The risk of developing infective endocarditis on a bicuspid aortic valve is 10-30% over a lifetime. […] Bicuspid aortic valve is the second most common congenital etiology for infective endocarditis in infants and children; overall, approximately 25% of endocarditis infections develop on a bicuspid valve. […] The risk of aortic root dissection is much higher for individuals with Marfan syndrome (approximately 40%) than for those with bicuspid aortic valve (approximately 5%).

• #59 Bicuspid Aortic Valve Causes, Symptoms, Treatments

  https://www.upmc.com/services/heart-vascular/conditions/bicuspid-aortic-valve

  People who have a parent with bicuspid aortic valve are more likely to develop the condition. Males are more likely to develop the condition than females. […] Bicuspid valves are known to deteriorate and develop disease sooner than normal, tri-leaflet aortic valves. People with a bicuspid valve may develop symptoms of aortic valve disease in their middle-age, as early as in their 30s and 40s. […] Bicuspid aortic valve is congenital and often genetic condition, so there is no way you can prevent it.

• #60 What causes a stiff, narrowed aortic valve? – Harvard Health

  https://www.health.harvard.edu/heart-health/what-causes-a-stiff-narrowed-aortic-valve

  „In the United States, the most common cause is a buildup of scar tissue and calcium deposits on the valve, known as fibrocalcific aortic valve disease.” […] „Another, less frequent cause is rheumatic heart disease, a complication of an untreated strep throat infection that, over time, damages a person’s heart valves.” […] „A normal aortic valve has three leaflets, but about one person in 100 is born with an aortic valve that has only two flaps. Known as a bicuspid aortic valve, this defect is two to three times more common in males than females and may run in families.” […] „A two-leaflet valve is more prone to calcium buildup, so people with bicuspid valves can develop aortic stenosis in their 50s and 60s more than a decade earlier than those with normal, tricuspid valves.”

• #61

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  In particular, for CAVD in BAV, it is uncertain whether abnormalities noted in clinically removed BAV tissues are primary or secondary, and what are the key differences that account for the accelerated and nearly ubiquitous formation of CAVD in the context of BAV. […] A fundamental question is whether and to what extent the biological processes leading to valve calcification are different in BAV versus TAV. […] Familial clustering of BAV and left ventricular OFT malformations has been associated with NOTCH1 receptor mutations. […] Notch receptors (NOTCH1-4 in mammals) interact with membrane ligands from neighbouring cells such as the delta-like (DLL1, 3, 4) and Jagged proteins (JAG1, 2). […] Hence, it is possible that complex interplay between GATA5, eNOS, Notch and Wnt/Lrp5 may promote early mineralisation of the aortic valve in BAV. […] The morbidity of BAV is likely determined by genetic susceptibility, abnormal solid and fluid mechanical forces imposed on the aortic valve/aorta, and perhaps environmental risk factors.

• #62 Etiology of bicuspid aortic valve disease: Focus on hemodynamics

  https://www.wjgnet.com/1949-8462/full/v6/i12/1227.htm

  While the genetic root of the BAV malformation has been clearly demonstrated, the etiology of BAV disease is still a matter of debate. […] The less popular hemodynamic theory considers the mechanical stresses produced by the abnormal valve anatomy as the driving factor of secondary valvulopathy and aortopathy. […] Despite those observations, the validation of the hemodynamic etiology of BAV disease requires demonstration of causality, which to date has been lacking. […] Collectively, those observations support a hemodynamic etiology by which the abnormal mechanical stresses experienced by BAV leaflets and BAV ascending aortas could trigger molecular pathways leading to the progressive calcification of the leaflets and the weakening of the aortic wall. […] The amplification of the degree of hemodynamic abnormality caused by the gradual stiffening of the leaflets and dilation of the proximal aorta may result in turn in the amplification of the pathological cascade and the acceleration of the disease process. […] In summary, evidence for the causative effects of BAV hemodynamics on secondary valvulopathy and aortopathy is emerging.

• #63

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4939890/

  In particular, for CAVD in BAV, it is uncertain whether abnormalities noted in clinically removed BAV tissues are primary or secondary, and what are the key differences that account for the accelerated and nearly ubiquitous formation of CAVD in the context of BAV. […] A fundamental question is whether and to what extent the biological processes leading to valve calcification are different in BAV versus TAV. […] Familial clustering of BAV and left ventricular OFT malformations has been associated with NOTCH1 receptor mutations. […] Notch receptors (NOTCH1-4 in mammals) interact with membrane ligands from neighbouring cells such as the delta-like (DLL1, 3, 4) and Jagged proteins (JAG1, 2). […] Hence, it is possible that complex interplay between GATA5, eNOS, Notch and Wnt/Lrp5 may promote early mineralisation of the aortic valve in BAV. […] The morbidity of BAV is likely determined by genetic susceptibility, abnormal solid and fluid mechanical forces imposed on the aortic valve/aorta, and perhaps environmental risk factors.

• #64 Normal and abnormal development of the aortic valve and ascending aortic wall: a comprehensive overview of the embryology and pathology of the bicuspid aortic valve – Grewal- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/16943/html

  This review gives an overview of the normal and abnormal development of the aortic semilunar valve and the ascending aortic wall. An altered neural crest cell and second heart field contribution, separately or in combination, can account for a structurally different aortic wall in combination with bicuspidy, as aortic vasculature and valve development are closely related and share common embryonic cell populations.

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