Materiały źródłowe

• #1 Mitral Valve Prolapse: Causes, Symptoms, Treatments

  https://www.medicinenet.com/mitral_valve_prolapse/article.htm

  Mitral valve prolapse (also known as „click murmur syndrome” and „Barlow’s syndrome”) is the most common heart valve abnormality. […] The mitral valve prolapse (MVP) syndrome has a strong hereditary tendency, although the exact cause is unknown. […] For reasons not clear, people with mild mitral valve prolapse often have more symptoms and signs than those with severe prolapse (which may require surgery). […] Mitral valve prolapse is more common in women from 20 to 40 years old; however, also occurs in men. […] Mitral valve prolapse may be rarely associated with strokes occurring in young people. These patients appear to have increased blood clotting tendencies due to abnormally sticky blood clotting elements, called platelets.

• #1 Mitral Valve Prolapse (MVP) – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/valvular-disorders/mitral-valve-prolapse-mvp

  Mitral valve prolapse is most often caused by idiopathic myxomatous degeneration of the mitral valve and chordae tendineae. […] Degeneration is usually idiopathic, although it may be inherited in an autosomal dominant or, rarely, in an X-linked recessive fashion. Myxomatous degeneration may also be caused by connective tissue disorders (eg, Marfan syndrome, Ehlers-Danlos syndrome, adult polycystic kidney disease, osteogenesis imperfecta, pseudoxanthoma elasticum, systemic lupus erythematosus, polyarteritis nodosa) and muscular dystrophies. MVP is more common among patients with Graves disease, hypomastia, von Willebrand disease, sickle cell disease, and rheumatic heart disease. […] Mitral annular disjunction (MAD) is partial detachment of the mitral annulus from the ventricular myocardium, allowing for hypermobility of the mitral valve. MAD is strongly associated with mitral valve prolapse and ventricular arrhythmias. Identification of MAD can alter the surgical technique used for mitral valve repair.

• #1

  https://step2.medbullets.com/cardiovascular/120025/mitral-valve-prolapse

  Myxomatous degeneration can be spontaneous or secondary to a connective tissue disorder. […] Rheumatic fever. […] Myocardial infarction. […] Chordae rupture. […] Idiopathic. […] Myxomatous degeneration of the mitral valve causes valvular leaflets to become abnormal secondary to excessive degradation of collagen and elastin by proteolytic enzymes and accumulation of proteoglycans. […] A deficiency in collagen, elastin, and proteoglycans causes leaflets to be mostly thin and translucent.

• #1 Mitral Valve Prolapse | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mitral-valve-prolapse.html

  The cause of MVP is unknown, but most cases are thought to be inherited. There are 2 forms of MVP: primary and secondary. […] Primary MVP means the mitral valve is abnormal because of 1 or more of these changes: One or both of the flaps are too large and thick. The flap surfaces are scarred. The tendon cords are thinner or longer than they should be. […] In secondary MVP, another disease is linked to MVP. Often the valve flaps are not thickened. Prolapse occurs for other reasons. The prolapse may be from: Damage caused by decreased blood flow to the muscles attached to the tendon cords because of coronary artery disease. Functional changes in the heart muscle. Damage to valve structures caused by heart attack, rheumatic heart disease, valve infection, or hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is when the left ventricle of the heart is larger than normal. […] Damage caused by a connective tissue disorder, such as Marfan syndrome.

• #1 Mitral Valve Prolapse – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=mitral-valve-prolapse-85-P00229

  The cause of MVP is unknown, but most cases are thought to be inherited. There are 2 forms of MVP: primary and secondary. […] Primary MVP means the mitral valve is abnormal because of one or more of these changes: One or both of the flaps are too large and thick. The flap surfaces are scarred. The tendon cords are thinner or longer than they should be. There are fibrin deposits on the flaps. Primary MVP is most often an isolated disease. But is can be linked to other valve or skeletal problems. Some rare instances of MVP are hereditary. […] In secondary MVP, another disease is linked to MVP. Often the valve flaps are not thickened. Prolapse occurs for other reasons. The prolapse may be from: Damage caused by decreased blood flow from coronary artery disease to the muscles attached to the tendon cords. Functional changes in the heart muscle. Damage to valve structures caused by heart attack, rheumatic heart disease, valve infection, or hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is when the left ventricle of the heart is larger than normal. […] Damage caused by a connective tissue disorder such as Marfan syndrome.

• #1 Epidemiology and Pathophysiology of Mitral Valve Prolapse: New Insights into Disease Progression, Genetics, and Molecular Basis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4052751/

  Mitral valve prolapse (MVP) may be familial or sporadic. […] Despite being the most common cause of isolated MR requiring surgical repair, little is known about the genetic mechanisms underlying the pathogenesis and progression of MVP. […] Nonetheless, a majority of data favors an autosomal dominant pattern of inheritance in a large proportion of individuals with MVP. […] While filamin A has been identified as causing an X-linked form of MVP, the causative genes for the more common form of autosomal dominant MVP have yet to be defined. […] The prevalence of at least mild MV pathology in Marfan syndrome (MFS) has been estimated to be approximately 75%, whereas the prevalence of more severe myxomatous MV thickening with prolapse is closer to 25% in these individuals. […] The presence of MVP has also been described in osteogenesis imperfecta and pseudoxanthoma elasticum, although the true prevalence of the disease is unclear as standard diagnostic criteria were not used in the initial imaging studies performed on these patients.

• #1 Genetics of mitral valve prolapse and its clinical impact

  https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Genetics-of-mitral-valve-prolapse-and-its-clinical-impact

  Mitral valve prolapse (MVP) is the most frequent valvular abnormality, associated with various degrees of incompetence and sequelae including heart failure and sudden death. MVP can be familial in 35-50% of cases. […] MVP can also be seen as part of other clinical syndromes such as connective tissue disorders and idiopathic dilated cardiomyopathy. A familial pattern is seen in approximately 35-50% of cases, suggesting a heritable component which has prompted genetic research into this condition. […] Two main forms of MVP exist based on aetiology: primary (degenerative disease in the absence of identifiable connective tissue disease and fibroelastic disease); and secondary MVP (associated with an identifiable disorder such as connective tissue disease, e.g., Marfan syndrome and Ehlers-Danlos syndrome).

• #1 Epidemiology and Pathophysiology of Mitral Valve Prolapse: New Insights into Disease Progression, Genetics, and Molecular Basis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4052751/

  A familial basis for MVP has long been recognized, with an autosomal dominant mode of inheritance, a variable penetrance influenced by age and sex, and a marked heterogeneity of clinical presentation even among the affected members within a family. […] Because MVP is found in many, but certainly not all patients with Marfan syndrome (MFS), it was suggested that primary MVP may be due to a mutation of FBN1. […] However, studies have failed to link non-syndromic familial MVP with variants in fibrillar or other collagen genes. […] More recently, our understanding of the 3D shape of the MV has improved the specificity of MVP diagnosis and in turn the yield of genetic studies. […] Based on this newer MVP phenotype, three loci for autosomal dominant, non-syndromic MVP have been identified on chromosomes 16, 11, and 13. […] While filamin A has been identified as causing an X-linked form of MVP, the genes for the more common form of autosomal dominant MVP have yet to be defined.

• #1 Mitral Valve Prolapse – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470288/

  MVP usually occurs as an isolated condition in connective tissue disorders such as Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and aneurysms-osteoarthritis syndrome.[5] […] MVP can be classified as primary or secondary. Primary MVP is characterized by myxomatous degeneration without connective tissue pathology. Secondary MVP can be multifactorial and can be seen with Ehler-Danlos Syndrome, Marfan syndrome, polycystic kidney disease, graves’ disease, and pectus excavatum. […] Genetic causes may be familial or sporadic and may include autosomal dominant inherited variants with affected chromosomes, including MMVP1 – chromosome 16p11.2-p12, MMVP2 – chromosome 11p15, and MMVP3 – chromosome 13q31.3-q32. Less commonly, it may be affected, and x linked mutation on chromosome Xq28 with missense mutation including P637Q, G288R, and V711D or can include in-frame 1944 base pair deletion.[7][4]

• #1 Mitral valve prolapse – Wikipedia

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

  Mitral valve prolapse is a genetically heterogeneous autosomal dominant trait, which can be passed down from one parent to child, who will have a 50% chance to inherit the mutated gene. […] Research has shown an association between MVP and primary cilia defects. Studies have identified mutations in the Zinc finger protein DZIP1 gene which regulates ciliogenesis; the same problem was found in mice who also developed MVP with this gene. It was found that primary cilia loss during development results in progressive myxomatous degeneration and profound mitral valve pathology. […] Myxomatous degeneration of the mitral valve is a genetic abnormality that is mapped to the Xq28 gene. And additionally to FLNA. […] To date, only one of the genes that have been associated with MVP is a direct regulator of connective tissue maintenance and extracellular matrix composition: TLL1, in a gain-of-function mechanism. […] Genetic and chromosome defect causes of MVP are complex and currently not fully understood. Further research is needed to fully identify all of the genes and genetic mechanisms involved in the development of MVP.

• #1 Genetic trigger discovered for common heart problem, mitral valve prolapse

  https://theconversation.com/genetic-trigger-discovered-for-common-heart-problem-mitral-valve-prolapse-117491

  This means that the blueprints for how these heart valves form in mitral valve prolapse patients are altered from the outset; its like a house being built with faulty bricks. […] Our group has found that the bricks of the heart valves, known as valve interstitial cells, require tiny hair-like structures called primary cilia to form and function properly. […] However, in many patients with mitral valve prolapse, these antennae are absent or defective, and the cells lose their ability to sense their surroundings. […] As a consequence, the normal structure of the valve becomes altered and over time leads to mitral valve prolapse.

• #1 Mitral Valve Prolapse: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17241-mitral-valve-prolapse

  Mitral valve prolapse causes your valve leaflets and chordae tendineae to be too stretchy, resulting in blood leaks backward from your left ventricle into your left atrium. […] Valve tissue weakness (myxomatous degeneration) causes mitral valve prolapse. Its not always clear what causes this tissue weakness. In some cases, families may pass it down to their biological children. Researchers have linked mitral valve prolapse with several genes, including FLNA, DCHS1, DZIP1 and PLD1. […] Some connective tissue disorders may cause myxomatous degeneration. These include Marfan syndrome, Ehlers-Danlos syndrome and Loeys-Dietz syndrome. […] Mitral valve prolapse affects people of all ages. Some people are born with mitral valve prolapse, including those who have connective tissue disorders. Rheumatic heart disease, scoliosis and Graves disease may also increase the risk of mitral valve prolapse.

• #1 Mitral valve prolapse – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mitral-valve-prolapse/symptoms-causes/syc-20355446

  Mitral valve prolapse is a type of heart valve disease that affects the valve between the left heart chambers. The flaps (leaflets) of the mitral valve are floppy. They bulge backward (prolapse) like a parachute into the heart’s left upper chamber as the heart squeezes (contracts). […] In mitral valve prolapse, one or both of the mitral valve leaflets have extra tissue or stretch more than usual. The leaflets can bulge backward (prolapse) like a parachute into the left upper heart chamber (left atrium) each time the heart contracts to pump blood. […] The bulging may keep the valve from closing tightly. If blood leaks backward through the valve, the condition is called mitral valve regurgitation. […] Mitral valve prolapse can occur in families (be inherited) and may be linked to several other conditions, including: Ebstein anomaly, Ehlers-Danlos syndrome, Graves’ disease, Marfan syndrome, Muscular dystrophy, Scoliosis.

• #1 Mitral Valve Prolapse Causes and Treatments | UVA Health

  https://uvahealth.com/services/heart-valve-disease/mitral-valve-prolapse

  We still dont know exactly what causes a mitral valve prolapse. But these factors do seem to be associated with an increased risk. […] Family history […] Being female […] Aged 14-30 […] Scoliosis […] Being thin […] Low blood pressure […] Chest wall deformities […] Marfan syndrome […] Vascular Ehler-Danlos syndrome (formerly called type IV) […] Graves disease […] Ebsteins anomaly.

• #1 Mitral Valve Prolapse | Doctor

  https://patient.info/doctor/mitral-valve-prolapse

  Mitral valve prolapse aetiology and associated conditions. The cause is often multifactorial. […] A common occurrence is leaflet thickening and redundancy, known as myxomatous degeneration – not related to hypothyroidism but involving the accumulation of proteoglycans on histology. The underlying mechanism is not known. […] MVP may also occur with histologically normal valves. Contributing/associated factors may be: A disproportionately small left ventricular (LV) cavity. Unrepaired secundum atrial defects. Certain recognised syndromes: Marfan’s syndrome; recent research suggests 28% prevalence (lower than previously thought). Ehlers-Danlos syndrome (6% prevalence). Osteogenesis imperfecta. Pseudoxanthoma elasticum. Adult polycystic kidney disease. […] Genetic factors – there is probably a familial, autosomal dominant condition with variable penetrance and variable clinical presentation. There may be other genetic forms.

• #1 Mitral Valve Prolapse: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/155494-overview

  Mitral valve prolapse (MVP) usually occurs as an isolated entity. It also commonly occurs with heritable disorders of connective tissue, including Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, and pseudoxanthoma elasticum. […] MVP has also been described in association with a secundum atrial septal defect and hypertrophic cardiomyopathy. […] MVP is generally defined as the systolic displacement of one or more abnormally thickened, redundant mitral leaflet(s) into the left atrium during systole. […] It may be familial or sporadic, with the majority of data favoring an autosomal dominant inheritance pattern in a large proportion of individuals with MVP. […] It is also the most common cause of isolated mitral regurgitation (MR) requiring surgical repair.

• #1 Mitral valve regurgitation – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mitral-valve-regurgitation/symptoms-causes/syc-20350178

  Mitral valve prolapse can cause blood to leak backward, a condition called mitral valve regurgitation. […] If mitral valve regurgitation is due to problems with the mitral valve, the condition is called primary mitral valve regurgitation. […] Possible causes of mitral valve regurgitation include: Mitral valve prolapse. In this condition, the mitral valve’s flaps bulge back into the left upper heart chamber when the heart squeezes. This common heart problem can prevent the mitral valve from closing tightly and cause blood to flow backward. […] Rheumatic fever can damage the mitral valve, leading to mitral valve regurgitation early or later in life. […] A heart attack can damage the area of the heart muscle that supports the mitral valve. […] Some people are born with heart structure problems, including damaged heart valves.

• #1 Mitral Valve Prolapse: Symptoms, Causes & Treatment | Prolapsed Mitral Valve

  https://resources.healthgrades.com/right-care/heart-health/mitral-valve-prolapse

  Mitral valve prolapse is caused by stretchy or floppy tissue leaflets in the valve. These floppy leaflets cannot seal adequately to stop blood from flowing backwards through the mitral valve. […] Most people with MVP are born with it. The exact genetic cause of the heart defect is not known in most cases, but it is more common in people with connective tissue disorders. MVP also can be caused by rheumatic fever, which is a complication of untreated strep throat. […] Mitral prolapse, which is sometimes called Barlow syndrome, is most often due to a genetic defect. It is a congenital heart defect that tends to run in families, but it can occur spontaneously without a family history of the condition. Mitral valve prolapse can also occur in conjunction with certain genetic disorders, such as Marfan syndrome.

• #1

  https://continentalhospitals.com/diseases/mitral-valve-disease/

  Rheumatic Heart Disease: A consequence of rheumatic fever, this inflammatory disease can damage the mitral valve, leading to both stenosis and regurgitation. Rheumatic fever typically follows a streptococcal throat infection. […] Infective Endocarditis: This is an infection of the heart valves or inner lining of the heart, often caused by bacteria. It can damage the mitral valve, leading to regurgitation or, less commonly, stenosis. […] Congenital Heart Defects: Some people are born with abnormalities in the mitral valve that can lead to dysfunction later in life. […] Degenerative Valve Disease: Age-related changes can cause the mitral valve to become thickened and calcified, leading to stenosis or regurgitation. […] Cardiomyopathy: Diseases of the heart muscle, such as dilated cardiomyopathy, can affect the function of the mitral valve, often leading to regurgitation. […] Ischemic Heart Disease: Reduced blood flow to the heart, typically from coronary artery disease, can lead to damage or dysfunction of the mitral valve. […] Trauma: Rarely, physical injury to the chest can damage the mitral valve, causing regurgitation.

• #1 What Causes Mitral Regurgitation?

  http://www.cardiosmart.org/topics/mitral-regurgitation/what-causes-mitral-regurgitation

  Mitral valve prolapse: The valve’s tissue flaps or the tendon cords that anchor the valves are weakened and stretch. The flaps then bulge into the top chamber, or atrium, with each heartbeat. […] Common causes of mitral regurgitation include: […] Drugs: The medications ergotamine and bromocriptine have been linked with mitral regurgitation. Weight loss medication, such as fenfluramine (fen-phen), has also been associated with this valve problem. This medication has been taken off the market. If you have taken these medications in the past, talk to your provider about getting your heart valves checked. Radiation exposure during cancer treatment also could contribute to the valve changing shape. […] Age: Over time, your body can deposit calcium around the valves and make it hard for your valves to close tightly.

• #1 Mitral valve prolapse – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/321

  Mitral valve prolapse is the most common cause of chronic mitral regurgitation in developed countries. […] MVP with leaflet thickening of 5 mm or greater during diastasis, reflecting myxomatous degeneration, is referred to as classic prolapse and is a predictor of complications. […] The degree of associated mitral regurgitation ranges from none to severe. […] Risk factors include family history, slim body type, connective tissue disorders, and mitral annular disjunction (MAD).

• #1 Mitral valve prolapse: an underestimated cause of sudden cardiac death—a current review of the literature – Spartalis – Journal of Thoracic Disease

  https://jtd.amegroups.org/article/view/17315/html

  Mitral valve prolapse (MVP) is characterized by a systolic displacement of one or both mitral leaflets below the mitral annulus plane into the left atrium (LA). […] There are several articles in the literature describing SCD in MVP patients, with a substantial percentage of asymptomatic young individuals. […] Different pathological processes can cause prolapse of the mitral valve, such as rheumatic heart disease, endocarditis, Marfan syndrome, and ischemic heart disease, but degenerative MVP attributes especially to a specific gamut of primary lesions. […] These are the fibroelastic deficiency (FED) and Barlow syndrome. […] Valve leaflet dumping in diastole or traction on papillary muscles could serve as a mechanical trigger for ventricular arrhythmias. […] Redundant and thickened leaflets have been identified as a risk factor for SCA in MVP.

• #2 Mitral Valve Prolapse and Mitral Valve Regurgitation in Athletes

  https://www.acc.org/latest-in-cardiology/articles/2017/02/20/08/06/mv-prolapse-and-mv-regurgitation-in-athletes

  Mitral valve prolapse is the most common valve abnormality in the general population, affecting between 2-3% of people, and is also the most common cause of mitral valve regurgitation in athletes.5,6 […] The cause of death is thought to be due to ventricular fibrillation, although a causal relationship has not been established. […] Patients with mitral valve prolapse and significant mitral valve regurgitation have an increased risk for sudden cardiac death, estimated at 0.9 to 1.9 percent annually, which is far greater than patients with only mitral valve prolapse or the population as a whole.10,11

• #2 Mitral Valve Prolapse: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17241-mitral-valve-prolapse

  Mitral valve prolapse causes your valve leaflets and chordae tendineae to be too stretchy, resulting in blood leaks backward from your left ventricle into your left atrium. […] Valve tissue weakness (myxomatous degeneration) causes mitral valve prolapse. Its not always clear what causes this tissue weakness. In some cases, families may pass it down to their biological children. Researchers have linked mitral valve prolapse with several genes, including FLNA, DCHS1, DZIP1 and PLD1. […] Some connective tissue disorders may cause myxomatous degeneration. These include Marfan syndrome, Ehlers-Danlos syndrome and Loeys-Dietz syndrome. […] Mitral valve prolapse affects people of all ages. Some people are born with mitral valve prolapse, including those who have connective tissue disorders. Rheumatic heart disease, scoliosis and Graves disease may also increase the risk of mitral valve prolapse.

• #2 Epidemiology and Pathophysiology of Mitral Valve Prolapse: New Insights into Disease Progression, Genetics, and Molecular Basis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4052751/

  A familial basis for MVP has long been recognized, with an autosomal dominant mode of inheritance, a variable penetrance influenced by age and sex, and a marked heterogeneity of clinical presentation even among the affected members within a family. […] Because MVP is found in many, but certainly not all patients with Marfan syndrome (MFS), it was suggested that primary MVP may be due to a mutation of FBN1. […] However, studies have failed to link non-syndromic familial MVP with variants in fibrillar or other collagen genes. […] More recently, our understanding of the 3D shape of the MV has improved the specificity of MVP diagnosis and in turn the yield of genetic studies. […] Based on this newer MVP phenotype, three loci for autosomal dominant, non-syndromic MVP have been identified on chromosomes 16, 11, and 13. […] While filamin A has been identified as causing an X-linked form of MVP, the genes for the more common form of autosomal dominant MVP have yet to be defined.

• #2 Risk Stratification in Arrhythmogenic Mitral Valve Prolapse | AER Journal

  https://www.aerjournal.com/articles/arrhythmogenic-mitral-valve-prolapse-can-we-risk-stratify-and-prevent-sudden-cardiac-death?language_content_entity=en

  Malignant (arrhythmogenic) mitral valve (MV) prolapse (MVP), a syndrome referring to arrhythmias associated with a prolapsing MV apparatus with the capacity to cause sudden cardiac death (SCD), is an increasingly recognised, albeit rare, phenomenon. […] MVP is a heterogeneous disease classified according to its aetiology and pathology, and can present as an isolated abnormality or secondary to other conditions, such as connective tissue disorders, hypertrophic cardiomyopathy or polycystic kidney disease. […] Primary MVP (disease of the MV apparatus) can be sporadic or familial, with autosomal dominance the most common mode of inheritance. […] Multiple loci have been identified in genetic linkage analysis for familial MVP, including 16p11.2-p12.1 in myxomatous mitral valve prolapse 1 (MMVP1), 11p15.4 in myxomatous mitral valve prolapse 2 (MMVP2) and 13q31.3-32.1 in myxomatous mitral valve prolapse 3 (MMVP3).

• #2 Mitral valve prolapse – Wikipedia

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

  Mitral valve prolapse is a genetically heterogeneous autosomal dominant trait, which can be passed down from one parent to child, who will have a 50% chance to inherit the mutated gene. […] Research has shown an association between MVP and primary cilia defects. Studies have identified mutations in the Zinc finger protein DZIP1 gene which regulates ciliogenesis; the same problem was found in mice who also developed MVP with this gene. It was found that primary cilia loss during development results in progressive myxomatous degeneration and profound mitral valve pathology. […] Myxomatous degeneration of the mitral valve is a genetic abnormality that is mapped to the Xq28 gene. And additionally to FLNA. […] To date, only one of the genes that have been associated with MVP is a direct regulator of connective tissue maintenance and extracellular matrix composition: TLL1, in a gain-of-function mechanism. […] Genetic and chromosome defect causes of MVP are complex and currently not fully understood. Further research is needed to fully identify all of the genes and genetic mechanisms involved in the development of MVP.

• #2 Genetic trigger discovered for common heart problem, mitral valve prolapse

  https://theconversation.com/genetic-trigger-discovered-for-common-heart-problem-mitral-valve-prolapse-117491

  Many of these people may, during the excitement of the game, feel that something is not right with their heart. […] Although one of the most common cardiovascular diseases, doctors have not understood the causes of this disease. […] It wasnt until today that I and my colleagues reported a genetic and biological trigger for the disease. […] Tackling this complex clinical problem required an international team of geneticists, cardiologists, echo-cardiographers and surgeons all collaborating to identify genetic and molecular causes for mitral valve prolapse in a multigenerational family of 43 members, 11 of whom suffered from this disorder. […] Using the DNA from the members of the large family, I and my colleagues identified a mutation in a gene called DZIP1. […] The models fully recapitulated the human disease and, to our surprise, revealed that mitral valve prolapse which is normally identified in the aging population originates during embryonic development.

• #2 Mitral Valve Prolapse (MVP) – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/valvular-disorders/mitral-valve-prolapse-mvp

  Mitral valve prolapse is most often caused by idiopathic myxomatous degeneration of the mitral valve and chordae tendineae. […] Degeneration is usually idiopathic, although it may be inherited in an autosomal dominant or, rarely, in an X-linked recessive fashion. Myxomatous degeneration may also be caused by connective tissue disorders (eg, Marfan syndrome, Ehlers-Danlos syndrome, adult polycystic kidney disease, osteogenesis imperfecta, pseudoxanthoma elasticum, systemic lupus erythematosus, polyarteritis nodosa) and muscular dystrophies. MVP is more common among patients with Graves disease, hypomastia, von Willebrand disease, sickle cell disease, and rheumatic heart disease. […] Mitral annular disjunction (MAD) is partial detachment of the mitral annulus from the ventricular myocardium, allowing for hypermobility of the mitral valve. MAD is strongly associated with mitral valve prolapse and ventricular arrhythmias. Identification of MAD can alter the surgical technique used for mitral valve repair.

• #2 Mitral Valve Prolapse Causes and Treatments | UVA Health

  https://uvahealth.com/services/heart-valve-disease/mitral-valve-prolapse

  We still dont know exactly what causes a mitral valve prolapse. But these factors do seem to be associated with an increased risk. […] Family history […] Being female […] Aged 14-30 […] Scoliosis […] Being thin […] Low blood pressure […] Chest wall deformities […] Marfan syndrome […] Vascular Ehler-Danlos syndrome (formerly called type IV) […] Graves disease […] Ebsteins anomaly.

• #2 Mitral Valve Prolapse | Doctor

  https://patient.info/doctor/mitral-valve-prolapse

  Mitral valve prolapse aetiology and associated conditions. The cause is often multifactorial. […] A common occurrence is leaflet thickening and redundancy, known as myxomatous degeneration – not related to hypothyroidism but involving the accumulation of proteoglycans on histology. The underlying mechanism is not known. […] MVP may also occur with histologically normal valves. Contributing/associated factors may be: A disproportionately small left ventricular (LV) cavity. Unrepaired secundum atrial defects. Certain recognised syndromes: Marfan’s syndrome; recent research suggests 28% prevalence (lower than previously thought). Ehlers-Danlos syndrome (6% prevalence). Osteogenesis imperfecta. Pseudoxanthoma elasticum. Adult polycystic kidney disease. […] Genetic factors – there is probably a familial, autosomal dominant condition with variable penetrance and variable clinical presentation. There may be other genetic forms.

• #2 Mitral Valve Prolapse | Valvular Heart Disease

  https://health.ucdavis.edu/conditions/heart-vascular/valvular-heart-disease/mitral-valve-prolapse

  You may have been born with mitral valve prolapse or it developed with age. Possible causes of mitral valve prolapse include: […] Rheumatic heart disease can cause your heart valve to scar and narrow. […] Myxomatous valve disease is when the connective tissue of your mitral valve starts falling apart. […] After a severe blood infection, you may develop endocarditis, or inflammation of your hearts inner lining. Endocarditis can damage the leaflets in your mitral heart valves.

• #2 What You Should Know About Mitral Valve Prolapse | University of Utah Health

  https://healthcare.utah.edu/healthfeed/2021/01/what-you-should-know-about-mitral-valve-prolapse

  One of the most common causes for mitral valve leaks is a condition called mitral valve prolapse (MVP). This occurs when one or both leaflets bulge or „balloon” so they can’t form a tight seal in the middle. That leaves enough space for some of the blood to go back through to the left atrium, and in some cases, back to the lungs. […] Anyone can develop mitral valve prolapse, although it’s more likely to occur in men over the age of 50. It’s often the result of a genetic condition, so it tends to run in families and might be linked to: Ehlers-Danlos syndrome, Muscular dystrophy, Marfan syndrome, Graves’ disease, Ebstein anomaly, Scoliosis. […] You are more likely to develop symptoms if your mitral valve has extra tissue, which causes the valve to stretch or balloon. You can also develop MVP when the cords that are supposed to keep the valve from swinging too far either break or get stretched out.

• #2 Mitral Valve Prolapse – The Definitive Guide • MyHeart

  https://myheart.net/articles/mitral-valve-prolapse-explained/

  Mitral valve prolapse (MVP) is a condition where the mitral valve – which is supposed to be firm – becomes diseased and floppy. […] The underlying process making the valve floppy is technically termed ‘myxomatous degeneration,’ which literally means jelly-like transformation. […] A few studies have tried to look into whether there is a genetic cause of MVP. Although there is a suggestion that a certain proportion of individuals have a hereditary component, much further research is needed to identify potential genetic causes. […] Mitral valve prolapse valves are stretchier and only half as strong as normal valve tissue. Also, the chords that attach the MVP valves to the heart wall are only half as strong as normal. This may help to explain why rupture of those chords is the main cause of worsening of valve failure and often an indication for needing surgery in patients with severe valve prolapse.

• #2 12.4 Etiology and mechanism of mitral regurgitation | 123sonography

  https://123sonography.com/ebook/etiology-and-mechanism-mitral-regurgitation

  Mitral regurgitation is classified as a structural or functional phenomenon. […] The mitral valve and its function may be affected by various diseases and conditions. These include aging, mitral valve prolapse, rheumatic heart disease, endocarditis, or congenital abnormalities. […] In mitral valve prolapse the valve protrudes beyond the mitral annular plane into the left atrium. Prolapse may affect portions of a leaflet (i.e. scallop), only one leaflet, or the entire valve. […] The term „mitral valve prolapse” in the strict sense is a functional definition. It may occur in the presence of various diseases such as endocarditis, „fibroelastic deficiency”, and even rheumatic heart disease. […] When we refer to mitral valve prolapse we usually mean a specific pathology of the mitral valve, referred to as degenerative myxomatous mitral valve prolapse, and also known as Barlow’s disease, floppy mitral valve, or classic mitral valve prolapse.

• #2 Genetics of mitral valve prolapse and its clinical impact

  https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Genetics-of-mitral-valve-prolapse-and-its-clinical-impact

  Mitral valve prolapse (MVP) is the most frequent valvular abnormality, associated with various degrees of incompetence and sequelae including heart failure and sudden death. MVP can be familial in 35-50% of cases. […] MVP can also be seen as part of other clinical syndromes such as connective tissue disorders and idiopathic dilated cardiomyopathy. A familial pattern is seen in approximately 35-50% of cases, suggesting a heritable component which has prompted genetic research into this condition. […] Two main forms of MVP exist based on aetiology: primary (degenerative disease in the absence of identifiable connective tissue disease and fibroelastic disease); and secondary MVP (associated with an identifiable disorder such as connective tissue disease, e.g., Marfan syndrome and Ehlers-Danlos syndrome).

• #2 Mitral valve prolapse: an underestimated cause of sudden cardiac death—a current review of the literature – Spartalis – Journal of Thoracic Disease

  https://jtd.amegroups.org/article/view/17315/html

  The genetic substrate has also been linked with MVP and SCD. […] Primary spontaneous rupture of the chordae is the most recognized complication of MVP. […] Myxomatous degeneration of valve leaflets and other structures of the valve apparatus and the degree of its severity, in particular, has been found to be the major risk factor in arrhythmia development. […] The results of our present analysis lead to the conclusion that MVP is an underrated cause of arrhythmic SCD.

• #3 Genetic trigger discovered for common heart problem, mitral valve prolapse

  https://theconversation.com/genetic-trigger-discovered-for-common-heart-problem-mitral-valve-prolapse-117491

  This means that the blueprints for how these heart valves form in mitral valve prolapse patients are altered from the outset; its like a house being built with faulty bricks. […] Our group has found that the bricks of the heart valves, known as valve interstitial cells, require tiny hair-like structures called primary cilia to form and function properly. […] However, in many patients with mitral valve prolapse, these antennae are absent or defective, and the cells lose their ability to sense their surroundings. […] As a consequence, the normal structure of the valve becomes altered and over time leads to mitral valve prolapse.

• #3 Mitral Valve Prolapse: Symptoms, Causes, and Treatment

  https://www.verywellhealth.com/mitral-valve-prolapse-8364683

  Mitral valve prolapse occurs when the mitral valve between the heart’s left atrium and left ventricle doesnt close properly. […] Not a lot is known about the causes of mitral valve prolapse, although a genetic risk for the condition can be inherited. The most common cause is having mitral valve flaps that are abnormally stretchy (myxomatous valve disease). Certain connective tissue diseases, such as Marfan syndrome, can also cause mitral valve prolapse. […] Mitral valve prolapse can run in families, and those with a family history are at higher risk of getting the condition. […] Risks are increased with these conditions: Connective tissue disorders: These include the inherited genetic conditions Marfan syndrome and Ehlers-Danlos syndrome. Rheumatic fever: This condition can occur after a group A Streptococcus infection (such as strep throat) that isn’t adequately treated. It can damage the heart valves. Graves’ disease: This is an autoimmune condition in which the immune system produces an antibody that causes the overproduction of thyroid hormones, which affect the heart. Scoliosis: With scoliosis, the spine is curved to the side. Other skeletal problems are also a risk factor. Muscular dystrophy: This group of disorders causes progressive muscle weakness. In some forms, the risk of mitral valve prolapse is raised. Older age: Risk increases as you age.

• #3 12.4 Etiology and mechanism of mitral regurgitation | 123sonography

  https://123sonography.com/ebook/etiology-and-mechanism-mitral-regurgitation

  Myxomatous mitral valve prolapse is characterized by an abnormal tissue composition with mucopolysaccharide accumulation, and changes in collagen and elastic fibers. This leads to functional impairment and affects the competence of the valve. […] Myxomatous mitral valve prolapse is a progressive disease with a hereditary component (autosomal dominant). Approximately 30-50% of first-degree relatives also have mitral valve prolapse. […] Mitral valve prolapse is frequently present in the Marfan syndrome. […] Other findings include thickened leaflets and chordae, excessive tissue, and rocking motion of the annulus. […] The degree of mitral regurgitation in mitral valve prolapse depends on many factors, such as the symmetry of the valve, and is not strictly related to the degree of morphologic abnormalities.

• #3 Risk Stratification in Arrhythmogenic Mitral Valve Prolapse | AER Journal

  https://www.aerjournal.com/articles/arrhythmogenic-mitral-valve-prolapse-can-we-risk-stratify-and-prevent-sudden-cardiac-death?language_content_entity=en

  The early identification and treatment of malignant MVP is made difficult due to the limited data available and a lack of evidence-based guidelines. […] Accurate risk stratification of MVP with a likelihood of malignant VA is an important clinical and public health issue, which would allow for more precise and targeted management and the consideration of appropriate ICD therapy for the primary and secondary prevention of SCD in this cohort. […] The most widely supported and substantiated mechanistic link between MVP and VA (malignant MVP) is considered to be an interaction between an acute abnormal mechanical stretch of the PM during systolic leaflet prolapse causing afterdepolarisation-triggered PVCs, and progressive hypertrophy with fibrosis most often localised in the basal/mid-inferolateral LV or PM secondary to repeated traction of the prolapsing leaflets. […] Whether VA in patients with MVP occurs in both the presence and absence of fibrosis as identified by LGE on CMR remains unknown. […] Despite limited data, there have been many recent advances in our understanding of this complex aMVP disease.

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