Materiały źródłowe

• #1 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] This is a likely underestimate as in the setting of congenital heart disease, mitral valve lesions are often incompletely documented. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The majority of congenital mitral valve lesions are complex and affect multiple segments of the valve apparatus. […] Often it is too difficult to define the predominant lesion and predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.

• #2 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] This is a likely underestimate as in the setting of congenital heart disease, mitral valve lesions are often incompletely documented. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The majority of congenital mitral valve lesions are complex and affect multiple segments of the valve apparatus. […] Often it is too difficult to define the predominant lesion and predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.

• #3 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] This is a likely underestimate as in the setting of congenital heart disease, mitral valve lesions are often incompletely documented. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The majority of congenital mitral valve lesions are complex and affect multiple segments of the valve apparatus. […] Often it is too difficult to define the predominant lesion and predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.

• #4 Congenital cardiovascular anomalies | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-cardiovascular-anomalies?lang=us

  Congenital cardiovascular anomalies are relatively common, with an incidence of up to 1% if small muscular ventricular septal defects (VSDs) are included. As a group, there is a much greater frequency in syndromic infants and in those that are stillborn. […] In a large study in the UK, it was found that congenital heart anomalies were present in almost 1 in 100 live births (~80 in 10,000 births).

• #5 Mitral valve incompetence: epidemiology and causes

  https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-16/Mitral-valve-incompetence-epidemiology-and-causes

  Mitral incompetence may occur as congenital malformations of the mitral valve. They are often complex and affect multiple segments of the valve apparatus. These may occur in isolation or in association with other congenital heart defects. In an echocardiographic study, congenital malformations of the mitral valve were detected in almost 0.5% of the 13,400 subjects. […] Double orifice mitral valve (DOMV) is a rare condition occurring in 1% of autopsied cases of congenital heart disease. DOMV is rarely isolated but usually an ancillary finding in the setting of a more complex congenital cardiac anomaly. […] Mitral valve regurgitation may occur as a result of mitral chordal rupture, leaflet rupture (flail leaflet), leaflet perforation or interference of the vegetation mass with leaflet closure.

• #6 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly

  https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en

  Double orifice mitral valve (DOMV) is a rare anomaly, characterised by a mitral valve with a single fibrous annulus resulting in two orifices. Since its discovery in the late 19th century, around 200 cases have been reported. […] DOMV may occur as an isolated anomaly but, in most cases, it is associated with other congenital malformations. Isolated DOMV is extremely rare and its exact incidence, prevalence and prognostic relevance have not been established. […] To the authors knowledge, this is the first Philippine documentation of an isolated DOMV. In addition, it is the first case to be reported in an adult Filipino patient, as majority of the registries are comprised of paediatric patients with DOMV associated with concomitant congenital anomalies. […] The purpose of reporting this case is to provide information to help identify DOMV by using 2D and 3D imaging since there are no published cases in our local setting to the best of our knowledge.

• #7 :: JCVI :: Journal of Cardiovascular Imaging

  https://e-jcvi.org/DOIx.php?id=10.4250/jcu.2016.24.2.168

  Unileaflet mitral valve is the rarest of the congenital mitral valve anomalies and is usually life threatening in infancy due to severe mitral regurgitation (MR). […] Unileaflet mitral valve is the rarest form of congenital anomalies of the mitral valve. […] Congenital malformations of the mitral valve are extremely rare and include congenital mitral stenosis, parachute mitral valve, double orifice of the mitral valve, cleft mitral valve, atresia, and unileaflet mitral valve. Unileaflet mitral valve is the rarest of these congenital anomalies. […] Existing literature in the field document cases of unileaflet mitral valve in asymptomatic patients of all age groups and mostly result from a severely hypoplastic posterior mitral valve. […] The prevalence of this anomaly is estimated to be 1:8800 in German population; however, the true prevalence is expected to be much lower in the general population.

• #8 Rare association between atrial septal defect and unicuspid mitral valve: Case report

  https://oatext.com/rare-association-between-atrial-septal-defect-and-unicuspid-mitral-valve-case-report.php

  Isolated atrial septal defect has an incidence of 1.6 / 1,000 cases and unicuspid mitral valve itself of about 1 / 8,800 cases in German population; however, it is thought to be less in other populations. […] Congenital malformations present in approximately 4/1,000 births, with atrial septal defect being one of the most common congenital malformations on adults. […] The 2D and 3D echocardiogram is the chosen technique for diagnosis and follow up of congenital cardiopathies.

• #9 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society

  https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/

  Congenital mitral stenosis (MS) rarely occurs in isolation. The incidence is about 0.6% of autopsied patients with congenital heart disease (CHD) and 0.21% to 0.42% of clinical cases of CHD. It coexists with a ventricular septal defect (VSD) in about 30% of cases, but is most commonly associated with left heart underdevelopment, left ventricular outflow tract obstruction (LVOTO), and Shones complex. Shones complex is a rare malformation comprised of four left-sided anomalies: a supravalvar mitral membrane (also called a supramitral ring), a parachute MV, subaortic stenosis, and coarctation of the aorta. A double orifice MV, named for the anatomical abnormality it produces, is also an extremely rare congenital anomaly that can lead to either MS or mitral regurgitation (MR). […] Congenital MS is classified into 4 types by a description of the valve abnormality although several types share common features such as short thick chords, obliteration of interchordal spaces and abnormal papillary muscles. Isolated severe mitral regurgitation (MR) is rare in pediatric patients. Etiologies include primary problems with the MV such as a cleft, also referred to as zone of apposition, when a component of an atrioventricular septal (AVSD) or canal defect (AVC), or mitral valve prolapse (MVP). Secondary or functional MR usually occurs in the setting of a cardiomyopathy or in combination with ventricular dysfunction. In this setting, the valve itself is usually normal but the coaptation area is decreased as the annulus dilates as a result of a primary myocardial abnormality.

• #10 Part 2 – Transesophageal Echocardiography in Congenital Mitral Valve Disease – Congenital Cardiac Anesthesia Society

  https://ccasociety.org/education/echoimage/transesophageal-echocardiography-in-congenital-mitral-valve-disease-part-2/

  Mitral Valve Prolapse affects 2-3% of the general population and is a common cause of MR, although less common in children. There is abnormal systolic displacement of one or both leaflets into the left atrium past the mitral annular plane due to disruption or elongation of leaflets, chordae, or papillary muscles.

• #11 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] This is a likely underestimate as in the setting of congenital heart disease, mitral valve lesions are often incompletely documented. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The majority of congenital mitral valve lesions are complex and affect multiple segments of the valve apparatus. […] Often it is too difficult to define the predominant lesion and predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.

• #12 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] This is a likely underestimate as in the setting of congenital heart disease, mitral valve lesions are often incompletely documented. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The majority of congenital mitral valve lesions are complex and affect multiple segments of the valve apparatus. […] Often it is too difficult to define the predominant lesion and predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.

• #13 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  Clinically significant congenital mitral valve lesions are rare and estimated to affect 0.4% of those with congenital heart disease or 5/100 000 of the general population. […] This is a likely underestimate as in the setting of congenital heart disease, mitral valve lesions are often incompletely documented. […] Echocardiography reveals that the prevalence of the minor mitral valve defects may be much higher than previously reported, up to 1% (11/1142) in healthy school-aged children. […] The majority of congenital mitral valve lesions are complex and affect multiple segments of the valve apparatus. […] Often it is too difficult to define the predominant lesion and predominant effect. […] The classical patterns of malformations are relatively rare and most can be characterized as the incomplete form or the forme fruste.

• #14 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/

  Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. […] Treatment of congenital mitral valve anomalies depends on your signs and symptoms and how severe your condition is. […] Children and adults who have had surgery for congenital mitral valve anomalies or who have congenital mitral valve anomalies will need lifelong care provided by doctors trained in congenital heart conditions, such as pediatric and adult congenital cardiologists.

• #15 Congenital mitral valve anomalies

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20359715

  Congenital mitral valve anomalies are problems with the valve between the heart’s two left chambers. That valve is called the mitral valve. Congenital means it is present at birth. […] People with mitral valve anomalies also often have other heart problems present at birth. […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. […] Treatment depends on the symptoms and how severe the condition is. If you have congenital mitral valve anomalies, you should have regular health checkups. […] People born with congenital mitral valve anomalies need lifelong health checkups. It’s best to be cared for by a provider trained in congenital heart conditions.

• #16 Congenital mitral valve anomalies – Overview – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-mitral-valve-anomalies/cdc-20385802

  Symptoms of congenital mitral valve anomalies may be serious or mild. Serious symptoms in babies and young children may include: Shortness of breath during feedings. Poor weight gain. A pale gray or bluish tint to the skin. Depending on skin color, these changes may be easier or harder to see. Heavy breathing. A fast heartbeat. Swelling in the legs, belly or around the eyes. […] Sometimes, symptoms of congenital mitral valve anomalies don’t appear until later in life, if at all. In older children and adults, symptoms may include: Trouble breathing, such as fast breathing or difficulty breathing during exercise. Chest pain or discomfort. Feeling very tired. Dizziness or fainting. Fast heartbeat or extra heartbeats. […] People born with congenital mitral valve anomalies need lifelong health checkups. It’s best to be cared for by a healthcare professional trained in congenital heart conditions. These types of doctors are called pediatric and adult congenital cardiologists.

• #17 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly

  https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en

  Because of the associated anomalies, DOMV is usually detected in early childhood, but is hardly ever diagnosed in adults, so the incidence and prognostic relevance of an isolated DOMV detected in adulthood is unknown. […] Recognition of DOMV and awareness of the anatomic variations are important to achieve good therapeutic results. Treatment is necessary only if significant mitral stenosis or mitral regurgitation is present. […] Management depends on the severity of the valvular stenosis and/or regurgitation, associated congenital defects and clinical presentation. Asymptomatic DOMV usually requires no active intervention; in cases of severe mitral regurgitation, stenosis or associated cardiac anomalies, surgical repair is needed.

• #18 Congenital mitral valve anomalies – Overview – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-mitral-valve-anomalies/cdc-20385802

  Symptoms of congenital mitral valve anomalies may be serious or mild. Serious symptoms in babies and young children may include: Shortness of breath during feedings. Poor weight gain. A pale gray or bluish tint to the skin. Depending on skin color, these changes may be easier or harder to see. Heavy breathing. A fast heartbeat. Swelling in the legs, belly or around the eyes. […] Sometimes, symptoms of congenital mitral valve anomalies don’t appear until later in life, if at all. In older children and adults, symptoms may include: Trouble breathing, such as fast breathing or difficulty breathing during exercise. Chest pain or discomfort. Feeling very tired. Dizziness or fainting. Fast heartbeat or extra heartbeats. […] People born with congenital mitral valve anomalies need lifelong health checkups. It’s best to be cared for by a healthcare professional trained in congenital heart conditions. These types of doctors are called pediatric and adult congenital cardiologists.

• #19 Congenital mitral valve anomalies – Overview – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-mitral-valve-anomalies/cdc-20385802

  Symptoms of congenital mitral valve anomalies may be serious or mild. Serious symptoms in babies and young children may include: Shortness of breath during feedings. Poor weight gain. A pale gray or bluish tint to the skin. Depending on skin color, these changes may be easier or harder to see. Heavy breathing. A fast heartbeat. Swelling in the legs, belly or around the eyes. […] Sometimes, symptoms of congenital mitral valve anomalies don’t appear until later in life, if at all. In older children and adults, symptoms may include: Trouble breathing, such as fast breathing or difficulty breathing during exercise. Chest pain or discomfort. Feeling very tired. Dizziness or fainting. Fast heartbeat or extra heartbeats. […] People born with congenital mitral valve anomalies need lifelong health checkups. It’s best to be cared for by a healthcare professional trained in congenital heart conditions. These types of doctors are called pediatric and adult congenital cardiologists.

• #20 Congenital mitral valve anomalies – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/congenital-mitral-valve-anomalies/

  Congenital mitral valve anomalies are heart problems present at birth (congenital heart defects) that affect the valve between the heart’s upper left chamber (left atrium) and lower left chamber (left ventricle). […] An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. […] Treatment of congenital mitral valve anomalies depends on your signs and symptoms and how severe your condition is. […] Children and adults who have had surgery for congenital mitral valve anomalies or who have congenital mitral valve anomalies will need lifelong care provided by doctors trained in congenital heart conditions, such as pediatric and adult congenital cardiologists.

• #21 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  On echocardiography, even the classical patterns of congenital mitral valves lesions do not give rise to a visual appearance of a parachute, hammock, or an arcade-like valve. […] However, a detailed segmental echocardiographic assessment can clearly define the pathology relating to the annulus, leaflet, commissures, chords, and papillary muscle arrangements. […] Generally there is a good correlation between 2-D echocardiographic findings and surgical morphology, which can be further supplement with 3-D imaging. […] A comprehensive echocardiographic assessment of a malformed mitral valve can guide the timing and nature of surgical repair.

• #22 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  On echocardiography, even the classical patterns of congenital mitral valves lesions do not give rise to a visual appearance of a parachute, hammock, or an arcade-like valve. […] However, a detailed segmental echocardiographic assessment can clearly define the pathology relating to the annulus, leaflet, commissures, chords, and papillary muscle arrangements. […] Generally there is a good correlation between 2-D echocardiographic findings and surgical morphology, which can be further supplement with 3-D imaging. […] A comprehensive echocardiographic assessment of a malformed mitral valve can guide the timing and nature of surgical repair.

• #23 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  On echocardiography, even the classical patterns of congenital mitral valves lesions do not give rise to a visual appearance of a parachute, hammock, or an arcade-like valve. […] However, a detailed segmental echocardiographic assessment can clearly define the pathology relating to the annulus, leaflet, commissures, chords, and papillary muscle arrangements. […] Generally there is a good correlation between 2-D echocardiographic findings and surgical morphology, which can be further supplement with 3-D imaging. […] A comprehensive echocardiographic assessment of a malformed mitral valve can guide the timing and nature of surgical repair.

• #24 Congenital mitral valve lesions : Correlation between morphology and imaging

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3327011/

  On echocardiography, even the classical patterns of congenital mitral valves lesions do not give rise to a visual appearance of a parachute, hammock, or an arcade-like valve. […] However, a detailed segmental echocardiographic assessment can clearly define the pathology relating to the annulus, leaflet, commissures, chords, and papillary muscle arrangements. […] Generally there is a good correlation between 2-D echocardiographic findings and surgical morphology, which can be further supplement with 3-D imaging. […] A comprehensive echocardiographic assessment of a malformed mitral valve can guide the timing and nature of surgical repair.

• #25 Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-024-04704-y

  Several instances of mitral cleft have been documented. […] One important aspect of defects is their co-occurrence with other congenital anomalies. […] Accurate diagnosis and early management are crucial to address complex cardiac anomalies and optimize outcomes. […] Echocardiography stands as the premier choice for imaging when evaluating congenital anomalies of the mitral valve, providing intricate details on the valves anatomy and morphology, as well as the mechanism and extent of mitral regurgitation. […] The integration of 2D and 3D echocardiography techniques is particularly beneficial for diagnosing clefts and providing precise guidance for repair surgeries. […] In our study, although an experienced echocardiographer performed TEE, it is essential to consider the utility of magnetic resonance imaging (MRI) in identifying congenital abnormalities. […] This study highlights a rare case of AMVL with ASD and VSD, illustrating the importance of detailed imaging. […] While TEE was essential for the diagnosis, it may not be available in all settings.

• #26 Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-024-04704-y

  Several instances of mitral cleft have been documented. […] One important aspect of defects is their co-occurrence with other congenital anomalies. […] Accurate diagnosis and early management are crucial to address complex cardiac anomalies and optimize outcomes. […] Echocardiography stands as the premier choice for imaging when evaluating congenital anomalies of the mitral valve, providing intricate details on the valves anatomy and morphology, as well as the mechanism and extent of mitral regurgitation. […] The integration of 2D and 3D echocardiography techniques is particularly beneficial for diagnosing clefts and providing precise guidance for repair surgeries. […] In our study, although an experienced echocardiographer performed TEE, it is essential to consider the utility of magnetic resonance imaging (MRI) in identifying congenital abnormalities. […] This study highlights a rare case of AMVL with ASD and VSD, illustrating the importance of detailed imaging. […] While TEE was essential for the diagnosis, it may not be available in all settings.

• #27 Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-024-04704-y

  The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. […] Cleft mitral valve leaflet (CMVL) represents the predominant cause of congenital mitral regurgitation (MR), a condition characterized by improper closure of the mitral valve, leading to backward flow of blood from the left ventricle into the left atrium. […] Originating from congenital anomalies in the mitral valves development, specifically mitral hypoplasia, CMVL frequently coexists with other congenital heart defects. […] Echocardiography is essential for diagnosing mitral valve anomalies, but transthoracic echocardiography (TTE) has limitations. […] Transesophageal echocardiography (TEE), however, offers a more direct and detailed view of the mitral valve and cardiac structures, overcoming the shortcomings of TTE and providing crucial imaging for identifying complex cardiac abnormalities such as CMVL, atrial septal defect (ASD), and ventricular septal defect (VSD).

• #28 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly

  https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en

  Because of the associated anomalies, DOMV is usually detected in early childhood, but is hardly ever diagnosed in adults, so the incidence and prognostic relevance of an isolated DOMV detected in adulthood is unknown. […] Recognition of DOMV and awareness of the anatomic variations are important to achieve good therapeutic results. Treatment is necessary only if significant mitral stenosis or mitral regurgitation is present. […] Management depends on the severity of the valvular stenosis and/or regurgitation, associated congenital defects and clinical presentation. Asymptomatic DOMV usually requires no active intervention; in cases of severe mitral regurgitation, stenosis or associated cardiac anomalies, surgical repair is needed.

• #29 Two Holes in One: A Rare Case of Congenital Mitral Valve Anomaly | Congenital Mitral Valve Anomaly

  https://www.japscjournal.com/articles/two-holes-one-rare-case-congenital-mitral-valve-anomaly?language_content_entity=en

  Because of the associated anomalies, DOMV is usually detected in early childhood, but is hardly ever diagnosed in adults, so the incidence and prognostic relevance of an isolated DOMV detected in adulthood is unknown. […] Recognition of DOMV and awareness of the anatomic variations are important to achieve good therapeutic results. Treatment is necessary only if significant mitral stenosis or mitral regurgitation is present. […] Management depends on the severity of the valvular stenosis and/or regurgitation, associated congenital defects and clinical presentation. Asymptomatic DOMV usually requires no active intervention; in cases of severe mitral regurgitation, stenosis or associated cardiac anomalies, surgical repair is needed.

• #30 :: JCVI :: Journal of Cardiovascular Imaging

  https://e-jcvi.org/DOIx.php?id=10.4250/jcu.2016.24.2.168

  To the best of our knowledge, there have only been 11 reported cases of post-neonatal unileaflet mitral valve in the literature, of which 70% of cases were found to be in asymptomatic patients. […] The prognosis in asymptomatic individuals is unclear; however, there is a potential for worsening MR with age due to annular dilation. […] There are no guidelines or recommendations currently for screening or follow-up monitoring of these patients. […] In conclusion, hereby we represent a rare case of unileaflet mitral valve and review not only the importance of echocardiography in accurate diagnosis, but also highlight the importance of periodic surveillance with echocardiography in early detection of MR in such cases.

• #31 :: JCVI :: Journal of Cardiovascular Imaging

  https://e-jcvi.org/DOIx.php?id=10.4250/jcu.2016.24.2.168

  To the best of our knowledge, there have only been 11 reported cases of post-neonatal unileaflet mitral valve in the literature, of which 70% of cases were found to be in asymptomatic patients. […] The prognosis in asymptomatic individuals is unclear; however, there is a potential for worsening MR with age due to annular dilation. […] There are no guidelines or recommendations currently for screening or follow-up monitoring of these patients. […] In conclusion, hereby we represent a rare case of unileaflet mitral valve and review not only the importance of echocardiography in accurate diagnosis, but also highlight the importance of periodic surveillance with echocardiography in early detection of MR in such cases.

• #32 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine

  https://pm.amegroups.org/article/view/6593/html

  Congenital mitral valve malformations (CMVM) are rare and heterogeneous. The functional classification includes mitral regurgitation, stenosis, and combined lesions. Surgical strategies of CMVM remain challenging in the pediatric population due to various malformations, growth potential, the requirement of long-term anticoagulation, and the necessity of avoiding or delaying valve replacement. […] Compared with mitral repair, mitral valve replacement (MVR) is a less common procedure in children due to high mortality and morbidity rates. Options for cardiac valve replacement in children are limited to prostheses sizes that do not accommodate somatic growth, especially for neonates and infants. […] The need for lifelong anticoagulation may lead to adverse long-term pregnancy outcomes for female patients, limiting the application of MVR.

• #33 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine

  https://pm.amegroups.org/article/view/6593/html

  Congenital mitral valve malformations (CMVM) are rare and heterogeneous. The functional classification includes mitral regurgitation, stenosis, and combined lesions. Surgical strategies of CMVM remain challenging in the pediatric population due to various malformations, growth potential, the requirement of long-term anticoagulation, and the necessity of avoiding or delaying valve replacement. […] Compared with mitral repair, mitral valve replacement (MVR) is a less common procedure in children due to high mortality and morbidity rates. Options for cardiac valve replacement in children are limited to prostheses sizes that do not accommodate somatic growth, especially for neonates and infants. […] The need for lifelong anticoagulation may lead to adverse long-term pregnancy outcomes for female patients, limiting the application of MVR.

• #34 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine

  https://pm.amegroups.org/article/view/6593/html

  Congenital mitral valve malformations (CMVM) are rare and heterogeneous. The functional classification includes mitral regurgitation, stenosis, and combined lesions. Surgical strategies of CMVM remain challenging in the pediatric population due to various malformations, growth potential, the requirement of long-term anticoagulation, and the necessity of avoiding or delaying valve replacement. […] Compared with mitral repair, mitral valve replacement (MVR) is a less common procedure in children due to high mortality and morbidity rates. Options for cardiac valve replacement in children are limited to prostheses sizes that do not accommodate somatic growth, especially for neonates and infants. […] The need for lifelong anticoagulation may lead to adverse long-term pregnancy outcomes for female patients, limiting the application of MVR.

• #35 Congenital mitral valve defects in pediatric population: a narrative review of surgical repair – Chen – Pediatric Medicine

  https://pm.amegroups.org/article/view/6593/html

  Congenital mitral valve malformations (CMVM) are rare and heterogeneous. The functional classification includes mitral regurgitation, stenosis, and combined lesions. Surgical strategies of CMVM remain challenging in the pediatric population due to various malformations, growth potential, the requirement of long-term anticoagulation, and the necessity of avoiding or delaying valve replacement. […] Compared with mitral repair, mitral valve replacement (MVR) is a less common procedure in children due to high mortality and morbidity rates. Options for cardiac valve replacement in children are limited to prostheses sizes that do not accommodate somatic growth, especially for neonates and infants. […] The need for lifelong anticoagulation may lead to adverse long-term pregnancy outcomes for female patients, limiting the application of MVR.

• #36 Valvulopathies and Genetics: Where are We?

  https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm

  Identification of these genes is crucial to the management of at-risk family members as well as improving therapeutic strategies. […] A recent study conducted by Bray et al. examined 6,054 family members of individuals diagnosed with BAV (Bicuspid Aortic Valve), and found the prevalence of BAV among these relatives was 7.3%. However, in some screened families, the prevalence of BAV reached as high as 23.6%. […] In the past, the clinical diagnosis of MVP was based on the presence of different signs and symptoms such as dyspnea, chest pain, and electrocardiographic abnormalities. […] MVP can be part of a well-defined syndrome (secondary cause) or can be identified in a non-syndromic context (primary cause). In non-syndromic cases, mitral prolapse may appear sporadically (non-familiar) or in familiar circumstances (hereditary).

• #37 Valvulopathies and Genetics: Where are We?

  https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm

  Identification of these genes is crucial to the management of at-risk family members as well as improving therapeutic strategies. […] A recent study conducted by Bray et al. examined 6,054 family members of individuals diagnosed with BAV (Bicuspid Aortic Valve), and found the prevalence of BAV among these relatives was 7.3%. However, in some screened families, the prevalence of BAV reached as high as 23.6%. […] In the past, the clinical diagnosis of MVP was based on the presence of different signs and symptoms such as dyspnea, chest pain, and electrocardiographic abnormalities. […] MVP can be part of a well-defined syndrome (secondary cause) or can be identified in a non-syndromic context (primary cause). In non-syndromic cases, mitral prolapse may appear sporadically (non-familiar) or in familiar circumstances (hereditary).

• #38 Valvulopathies and Genetics: Where are We?

  https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm

  The link between juvenile polyposis syndrome (JPS) and its association with MVP has been documented in a single publication involving a family with a history of aortopathy, mitral valve dysfunction, and JPS. […] Mitral valve stenosis is generally caused by rheumatic heart disease and nearly 25% of cases with this condition will suffer valve affectation. […] There is undeniable evidence supporting a genetic component in both primary and secondary heart valve diseases. However, the genetic basis is intricate, given factors like incomplete penetrance, heterogeneity, and modifying factors. […] It is important to note that the prevalence of certain valvulopathies, like mitral valve prolapse or bicuspid aortic valve, might be underrepresented in statistics due to their common and non-pathological occurrence in the general population.

• #39 Valvulopathies and Genetics: Where are We?

  https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm

  The link between juvenile polyposis syndrome (JPS) and its association with MVP has been documented in a single publication involving a family with a history of aortopathy, mitral valve dysfunction, and JPS. […] Mitral valve stenosis is generally caused by rheumatic heart disease and nearly 25% of cases with this condition will suffer valve affectation. […] There is undeniable evidence supporting a genetic component in both primary and secondary heart valve diseases. However, the genetic basis is intricate, given factors like incomplete penetrance, heterogeneity, and modifying factors. […] It is important to note that the prevalence of certain valvulopathies, like mitral valve prolapse or bicuspid aortic valve, might be underrepresented in statistics due to their common and non-pathological occurrence in the general population.

• #40 About Heart Valve Disease | Heart Disease | CDC

  https://www.cdc.gov/heart-disease/about/heart-valve-disease.html

  Congenital heart valve disease is malformations of the heart valves. The most commonly affected valve with a congenital defect is a bicuspid aortic valve. […] Congenital heart disease (heart valves formed incorrectly before birth). […] Pediatricians play a key role in identifying congenital heart valve disease that may not have been detected at birth or during prenatal care. […] Early diagnosis, treatment, and routine monitoring of heart valve disease are critical to helping patients live healthy lives.

• #41 About Heart Valve Disease | Heart Disease | CDC

  https://www.cdc.gov/heart-disease/about/heart-valve-disease.html

  Congenital heart valve disease is malformations of the heart valves. The most commonly affected valve with a congenital defect is a bicuspid aortic valve. […] Congenital heart disease (heart valves formed incorrectly before birth). […] Pediatricians play a key role in identifying congenital heart valve disease that may not have been detected at birth or during prenatal care. […] Early diagnosis, treatment, and routine monitoring of heart valve disease are critical to helping patients live healthy lives.

• #42 Valvular heart disease: congenital anomalies of the mitral

  https://hospital.vallhebron.com/en/healthcare/diseases/valvular-heart-disease-congenital-anomalies-mitral-valve

  Congenital mitral valve anomalies are rare and make up 0.5% of congenital heart defects. […] Congenital mitral stenosis tends to appear in the first two years of life, and congenital mitral insufficiency occurs where there is an excess of liquid in the lung which causes breathing difficulties. […] In the case of congenital mitral insufficiency, surgical repair or replacement of the valve is necessary in patients with symptoms who have severe mitral insufficiency and do not respond to treatment.

• #43 Mitral Valve Abnormalities – Seattle Children’s

  https://www.seattlechildrens.org/conditions/mitral-valve-abnormalities/

  Some children are born with mitral valve problems. In many cases, the cause is not clear. Children born with mitral valve problems may have other conditions that need treatment. […] Congenital mitral valve stenosis is usually linked with conditions that block blood flow on the left side of the heart. Rarely, mitral valve stenosis can happen on its own. […] Some children with congenital (present at birth) mitral valve problems are born with other conditions too. For instance, mitral valve prolapse sometimes happens with Marfan syndrome, and some types of mitral valve regurgitation are common in children with Down syndrome. […] Seattle Childrens took part in research that led the U.S. Food and Drug Administration to approve the St. Jude mechanical heart valve. […] Our researchers are studying other new growth valves that can take the place of an abnormal mitral valve and be enlarged over time. […] Doctors and scientists at Seattle Childrens are working to advance treatment for mitral valve abnormalities and enhance the quality of life for children who need treatment for valve problems.

• #44 Mitral Valve Abnormalities – Seattle Children’s

  https://www.seattlechildrens.org/conditions/mitral-valve-abnormalities/

  Some children are born with mitral valve problems. In many cases, the cause is not clear. Children born with mitral valve problems may have other conditions that need treatment. […] Congenital mitral valve stenosis is usually linked with conditions that block blood flow on the left side of the heart. Rarely, mitral valve stenosis can happen on its own. […] Some children with congenital (present at birth) mitral valve problems are born with other conditions too. For instance, mitral valve prolapse sometimes happens with Marfan syndrome, and some types of mitral valve regurgitation are common in children with Down syndrome. […] Seattle Childrens took part in research that led the U.S. Food and Drug Administration to approve the St. Jude mechanical heart valve. […] Our researchers are studying other new growth valves that can take the place of an abnormal mitral valve and be enlarged over time. […] Doctors and scientists at Seattle Childrens are working to advance treatment for mitral valve abnormalities and enhance the quality of life for children who need treatment for valve problems.

• #45 Valvulopathies and Genetics: Where are We?

  https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040/htm

  Identification of these genes is crucial to the management of at-risk family members as well as improving therapeutic strategies. […] A recent study conducted by Bray et al. examined 6,054 family members of individuals diagnosed with BAV (Bicuspid Aortic Valve), and found the prevalence of BAV among these relatives was 7.3%. However, in some screened families, the prevalence of BAV reached as high as 23.6%. […] In the past, the clinical diagnosis of MVP was based on the presence of different signs and symptoms such as dyspnea, chest pain, and electrocardiographic abnormalities. […] MVP can be part of a well-defined syndrome (secondary cause) or can be identified in a non-syndromic context (primary cause). In non-syndromic cases, mitral prolapse may appear sporadically (non-familiar) or in familiar circumstances (hereditary).

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