Mitral valve prolapse: arrhythmic risk during pregnancy and postpartum.

BACKGROUND AND AIMS: Arrhythmic mitral valve prolapse (AMVP) is linked to life-threatening ventricular arrhythmias (VAs), and young women are considered at high risk. Cases of AMVP in women with malignant VA during pregnancy have emerged, but the arrhythmic risk during pregnancy is unknown. The authors aimed to describe features of women with high-risk AMVP who developed malignant VA during the perinatal period and to assess if pregnancy and the postpartum period were associated with a higher risk of malignant VA. METHODS: This retrospective international multi-centre case series included high-risk women with AMVP who experienced malignant VA and at least one pregnancy. Malignant VA included ventricular fibrillation, sustained ventricular tachycardia, or appropriate shock from an implantable cardioverter defibrillator. The authors compared the incidence of malignant VA in non-pregnant periods and perinatal period; the latter defined as occurring during pregnancy and within 6 months after delivery. RESULTS: The authors included 18 women with AMVP from 11 centres. During 7.5 (interquartile range 5.8-16.6) years of follow-up, 37 malignant VAs occurred, of which 18 were pregnancy related occurring in 13 (72%) unique patients. Pregnancy and 6 months after delivery showed increased incidence rate of malignant VA compared to the non-pregnancy period (univariate incidence rate ratio 2.66, 95% confidence interval 1.23-5.76). CONCLUSIONS: The perinatal period could impose increased risk of malignant VA in women with high-risk AMVP. The data may provide general guidance for pre-conception counselling and for nuanced shared decision-making between patients and clinicians.

Prevalence of cardiac valvar abnormalities in children and young people with autosomal dominant polycystic kidney disease.

BACKGROUND: Valvar abnormalities in children and adults with autosomal dominant polycystic kidney disease (ADPKD) have previously been reported as a frequent occurrence. Mitral valve prolapse (MVP), in particular, has been reported in almost one-third of adult patients and nearly 12% of children with ADPKD. Our objective in this study was to establish the prevalence of valvar abnormalities in a large, contemporary series of children and young people (CYP) with ADPKD. METHODS: A retrospective, single centre, cross-sectional analysis of the echocardiograms performed on all consecutive children seen in a dedicated paediatric ADPKD clinic. Full anatomical and functional echocardiograms were performed and analysed for valvar abnormalities. RESULTS: The echocardiograms of 102 CYP with ADPKD (range 0.25-18 years, mean age 10.3 years, SD ± 5.3 years) were analysed. One (0.98%), 3-year-old boy, had MVP. There was no associated mitral regurgitation. Evaluating variations in normal valvar anatomy, 9 (8.8%) patients, aged 7.1 to 18 years, had minor bowing ± visual elongation of either the anterior or posterior leaflet of the mitral valve, none of which fell within the criteria of true MVP. Three (1.9%) patients, 2 boys and 1 girl aged between 7 and 14 years, had trivial or mild aortic regurgitation. No patients had echocardiographic evidence of tricuspid valve prolapse (TVP). CONCLUSION: In this contemporary cohort of CYP with ADPKD, the incidence of MVP and other valvar lesions is significantly lower than previously reported. A higher resolution version of the Graphical abstract is available as Supplementary information.

Association of Pectus Excavatum With Ventricular Remodelling and Mitral Valve Abnormalities in Marfan Syndrome.

Background: Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX with cardiovascular manifestations of MFS, biventricular size and function. Methods: MFS adults undergoing cardiac MRI were retrospectively evaluated. Exclusion criteria were incomplete cardiac MRI, significant artifacts, co-existent ischaemic or congenital heart disease. Haller Index (HI) ≥3.25 classified patients as PEX positive (PEX+) and PEX negative (PEX-). Cardiac MRI analysis included assessment of mitral valve prolapse (MVP), mitral annular disjunction (MAD), biventricular volumetry and aortic dimensions. Results: 212 MFS patients were included, 76 PEX+ and 136 PEX- (HI 8.3 ± 15.2 vs 2.3 ± 0.5, P < .001). PEX+ were younger (33.4 ± 12.0 vs 38.1 ± 14.3 years, P = .02) and similar in sex distribution (55% vs 63% male, P = .26) compared to PEX-. MVP and MAD were more frequent in PEX+ vs PEX- (43/76 [57%] vs 37/136 [27%], P < .001; 44/76 [58%] vs 50/136[37%], P = .003, respectively). PEX+ had higher right ventricular end-diastolic and end-systolic volumes (RVEDVi 92 ± 17mL/m2 vs 84 ± 22mL/m2, P = .04; RVESVi 44 ± 10 mL/m2 vs 39 ± 14 mL/m2, P = .02), lower RV ejection fraction (RVEF 52 ± 5% vs 55 ± 6%, P = .01) compared to PEX-. Left ventricular (LV) volumes, LVEF and aortic dimensions were similar. Conclusion: MFS adults with PEX have higher frequency of cardiac manifestations including MV abnormalities, increased RV volumes and lower RVEF compared to those without PEX. Awareness of this association is important for all radiologists who interpret aortic CT or MRI, where HI can be easily measured. PEX in MFS may suggest more severe disease expression necessitating careful screening for MV abnormalities and outcomes surveillance.

Recent infective endocarditis research findings suggest dentists prescribe prophylactic antibiotics for patients having a bicuspid aortic valve or mitral valve prolapse.

BACKGROUND: The scientific validity of the European Society of Cardiology's (ESC) infective endocarditis (IE) guidelines limiting provision of prophylactic antibiotics (AP) only to patients having cardiac anomalies (e.g., prosthetic valves) believed to place them at "high risk" of adverse events when undergoing high risk dental procedures (HRDP) is unclear. MATERIAL AND METHODS: A systematic review of studies conducted between 2017 and 2022 and catalogued in the PubMed database was undertaken to ascertain if this edict was associated with changes in IE incidence, development of infection in unprotected cardiac anomalies, developing infection and resultant adverse clinical outcomes. RESULTS: Retrieved were 19 published manuscripts, however of these, 16 were excluded because they did not bare upon the issues of concern. Among the three studies eligible for review were those in the Netherlands, Spain, and England. The results of the Dutch study denoted a significant increase in the incidence of IE cases over the projected historical trend (rate ratio: 1327, 95% CI 1.205-1.462; p<0.001) after the introduction of the ESC guidelines. The findings from the Spanish study evidenced the uniquely high in-hospital IE associated fatality rates suffered by patients having bicuspid aortic valves (BAV); 5.6% or mitral valve prolapse (MVP); 10%. The British study provided evidence that the incidence of fatal IE infection was significantly greater among an "intermediate risk" cohort of patients, (a group likely including those with BAC and MVP for which the ESC guidelines don't recommend AP), than among "high risk" patients (P = 0.002). CONCLUSIONS: Patients having either a BAV or MVP are at significant risk of developing IE and suffering serious sequelae including death. The ESC guidelines must reclassify these specific cardiac anomalies into the "high risk" category so that AP are recognized as being needed prior to provision of HRDP.

Genetic background of mitral valve prolapse.

Mitral valve prolapse (MVP) has a prevalence of 2-3% among the population. It involves a heterogeneous group of patients with different expressions and according to the phenotype can be further divided into fibroelastic deficiency, which is mainly considered as a degeneration due to aging, and myxomatous disease, frequently associated with familiar clusters. Thus, MVP can be present in syndromic, when part of a well-defined syndrome, and non-syndromic forms. The latter occurs more often. To the second belong both familiar and isolated or sporadic forms. On one hand, among familial forms, although X-linked transmission related to FLNA gene was initially identified, further studies reported also autosomal dominant mode involving MVPP genes, including DCHS1. On the other hand, genome-wide association studies (GWAS), among unrelated patients, allowed the identification of new MVP-associated genes, such as LMCD1, GLIS, and TNS1. Moreover, single nucleotide polymorphisms (SNPs) on metalloproteinase genes have been related to MVP. Interestingly some genes such as DCHS1 and DZIP1 have been reported to be involved in both familiar and isolated forms. The present review aims to illustrate the updated genetic background of MVP.

Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Introduction: Mitral valve prolapse and aortic root dilatation are reported in association with hypermobile Ehlers-Danlos syndrome (hEDS), but the full phenotypic spectrum of cardiovascular complications in this condition has not been studied in the aftermath of updated nosology and diagnostic criteria. Methods: We performed a retrospective review of 258 patients (> 94% adults) referred to a multidisciplinary clinic for evaluation of joint hypermobility between January 2017 and December 2020 and diagnosed with hEDS or a hypermobility spectrum disorder (HSD) to determine the incidence and spectrum of cardiovascular involvement. Results: Mitral valve prolapse was present in 7.5% and thoracic aortic dilatation in 15.2%. Aortic dilatation was more frequent in individuals with hEDS (20.7%) than with HSD (7.7%) and similarly prevalent between males and females, although was mild in > 90% of females and moderate-to-severe in 50% of males. Five individuals (1.9%) with hEDS/HSD had extra-aortic arterial involvement, including cervical artery dissection (CeAD, n = 2), spontaneous coronary artery dissection (SCAD, n = 2), and SCAD plus celiac artery pseudoaneurysm (n = 1). This is the first series to report the prevalence of CeAD and SCAD in hEDS/HSD. Conclusions: Cardiovascular manifestations in adults with hEDS/HSD, especially females, are typically mild and readily assessed by echocardiography. Since the risk of progression has not yet been defined, adults with hEDS/HSD who are found to have aortic dilatation at baseline should continue ongoing surveillance to monitor for progressive dilatation. Cardiovascular medicine specialists, neurologists, and neurosurgeons should consider hEDS/HSD on the differential for patients with CeAD or SCAD who also have joint hypermobility.

Chest pain and palpitations in postmenopausal women with mitral valve prolapse: is there a gastro-oesophageal origin?

BACKGROUND AND AIM: Mitral valve prolapse (MVP) is a common disease in women, causing chest pain and palpitation due to structural and functional valve abnormality, and is sometimes associated with gastro-oesophageal reflux disease (GERD). This is a challenging clinical problem in clinical practice and requires targeted diagnostic assessment to identify the underlying causes of the symptoms, because treatment needs to be tailored, according to the causes themselves, to resolve the symptoms. AIM: To assess the prevalence of GERD in a population of postmenopausal women affected by MVP and determine if there is any correlation between the two conditions. METHODS: The MVP diagnosis was performed using echocardiograpy examination, according to American Society Echocardiography criteria. Two hundred and eighty-nine consecutive MVP women, symptomatic for chest pain and palpitation, were included; 250 consecutive women without MVP, symptomatic for chest pain and palpitation, were the control group (CG). The GERD diagnosis was made according to 2013 American College Gastroenterology criteria; women affected by thyroid disorders, all heart disease, including mitral disease with moderate or severe mitral regurgitation, and gastrointestinal diseases assessed using gastroscopy were excluded. RESULTS: Among 289 women with MVP, 31 (11%) women were affected by GERD, and among 250 in the CG, 11 (4.4%) women were affected by GERD: Chi-squared 8.1; odds ratio 2.7; P < 0.0044. Twenty-six (9%) women affected by GERD, with MVP, presented with mild mitral regurgitation, and 7 (2.8%) women in the CG presented with mild mitral regurgitation as well: Chi-squared 8.95; odds ratio 3.4; 95% CI, P < 0.0028. DISCUSSION AND CONCLUSIONS: GERD is relatively common in women with MVP. Moreover, women with MVP are approximately three times more likely to be affected by GERD; the two conditions are correlated in a statistically high significant way. GERD assessment needs to be included into routine follow-up strategies in women with MVP to optimise medical therapy, improvinge symptom relief for better quality of life.

Definition, prevalence, and clinical significance of mitral annular disjunction in different patient cohorts: A systematic review.

BACKGROUND: Mitral annular disjunction (MAD) is a structural abnormality involving a distinct separation of the left atrium/mitral valve annulus and myocardium continuum. The literature around MAD has increased over recent years, thus we sought to review the current data on the definition, prevalence, and clinical outcomes of MAD. METHODS: A search of MEDLINE and EMBASE was conducted to identify studies which evaluated MAD in any patient cohort. The study results were synthesized narratively. RESULTS: A total of 12 studies were included with 3925 patients (average age 62 years, 63% male). The pooled prevalence of MAD in patients with mitral valve prolapse and/or Barlow's disease was 30.1%. In a general population, MAD prevalence was 8.7%. The definition of MAD was not consistent across all studies. In terms of clinical outcomes, only one study reported MAD to be associated with ventricular arrhythmias. CONCLUSIONS: MAD is an increasingly recognized finding amongst patients undergoing cardiac imaging. This review highlights the need for agreed definitions for clinically significant MAD and how identified MAD should be managed. At present, there is insufficient evidence that MAD is associated adverse clinical outcomes.

Global, Regional, and National Burden of Calcific Aortic Valve and Degenerative Mitral Valve Diseases, 1990-2017.

BACKGROUND: Nonrheumatic valvular diseases are common; however, no studies have estimated their global or national burden. As part of the Global Burden of Disease Study 2017, mortality, prevalence, and disability-adjusted life-years (DALYs) for calcific aortic valve disease (CAVD), degenerative mitral valve disease, and other nonrheumatic valvular diseases were estimated for 195 countries and territories from 1990 to 2017. METHODS: Vital registration data, epidemiologic survey data, and administrative hospital data were used to estimate disease burden using the Global Burden of Disease Study modeling framework, which ensures comparability across locations. Geospatial statistical methods were used to estimate disease for all countries, because data on nonrheumatic valvular diseases are extremely limited for some regions of the world, such as Sub-Saharan Africa and South Asia. Results accounted for estimated level of disease severity as well as the estimated availability of valve repair or replacement procedures. DALYs and other measures of health-related burden were generated for both sexes and each 5-year age group, location, and year from 1990 to 2017. RESULTS: Globally, CAVD and degenerative mitral valve disease caused 102 700 (95% uncertainty interval [UI], 82 700-107 900) and 35 700 (95% UI, 30 500-42 500) deaths, and 12.6 million (95% UI, 11.4 million-13.8 million) and 18.1 million (95% UI, 17.6 million-18.6 million) prevalent cases existed in 2017, respectively. A total of 2.5 million (95% UI, 2.3 million-2.8 million) DALYs were estimated as caused by nonrheumatic valvular diseases globally, representing 0.10% (95% UI, 0.09%-0.11%) of total lost health from all diseases in 2017. The number of DALYs increased for CAVD and degenerative mitral valve disease between 1990 and 2017 by 101% (95% UI, 79%-117%) and 35% (95% UI, 23%-47%), respectively. There is significant geographic variation in the prevalence, mortality rate, and overall burden of these diseases, with highest age-standardized DALY rates of CAVD estimated for high-income countries. CONCLUSIONS: These global and national estimates demonstrate that CAVD and degenerative mitral valve disease are important causes of disease burden among older adults. Efforts to clarify modifiable risk factors and improve access to valve interventions are necessary if progress is to be made toward reducing, and eventually eliminating, the burden of these highly treatable diseases.

[Mitral valve prolapse: beyond mitral regurgitation, the arrhythmic risk]. / Prolapsus mitral : une étiologie méconnue d'arythmie ventriculaire et de mort subite.

Mitral prolapse is a common condition, defined by the systolic bulging of at least one mitral leaflet into the left atrium, which is often accompanied by various degree of mitral insufficiency. While for most of the patients the prognosis is linked to the severity of the valve regurgitation and its repercussions on the left ventricle (dilation and/or dysfunction), a minority of patients present with severe ventricular arrhythmia and an increased risk of sudden cardiac death, irrespective of the severity of the mitral regurgitation. To describe this particular condition, the terms arrhythmic or malignant mitral valve prolapse have been coined. The aim of this article is to describe the clinical, electrocardiographic and morphologic characteristics, which have been associated with an increased risk of arrhythmia in patients with mitral prolapse.

Le prolapsus mitral est une pathologie fréquente, définie par le bombement en systole d'au moins un feuillet mitral dans l'oreillette gauche, qui s'accompagne fréquemment d'un degré variable d'insuffisance mitrale. Dans la majorité des cas, le pronostic est lié à la sévérité de l'insuffisance valvulaire et ses répercussions sur le ventricule gauche (dilatation et/ou dysfonction). Toutefois, dans certaines formes, le prolapsus mitral se manifeste par une susceptibilité aux arythmies ventriculaires et s'associe à un risque accru de mort subite, indépendamment de la présence ou de la sévérité de l'insuffisance valvulaire. On parle alors de syndrome du prolapsus mitral arythmique ou prolapsus mitral malin. Cet article décrit les caractéristiques cliniques, électrocardiographiques et morphologiques associées au risque arythmique chez les patients atteints d'un prolapsus mitral.

The Prevalence of Mitral Valve Prolapse in Panic Disorder: A Meta-Analysis.

BACKGROUND: Although most studies have suggested that mitral valve prolapse (MVP) is more prevalent in patients with panic disorder (PD) than in healthy controls, there is a substantial uncertainty in the rates of MVP across studies. OBJECTIVE: To investigate, through systematic review and meta-analysis, the relative risk of MVP in patients with PD compared to controls. METHODS: Embase, Proquest, Pubmed, and Google Scholar electronic databases were searched up to September 2018. All studies published in peer-reviewed journals, which included both PD and controls groups, were selected. Events (presence of MVP) and nonevents (absence of MVP) in PD and control groups were recorded. The main outcome was the measure of relative risk (RR) pooled with 95% confidence intervals, using fixed-effects model. Heterogeneity, small publication effect, and publication bias were evaluated. RESULTS: Fourteen studies, including 1146 participants, met eligibility criteria. There was no significant heterogeneity or publication bias. The prevalence of MVP in PD and healthy controls was 27.20% and 9.21%, respectively. Patients with PD had a significantly increased relative risk of MVP compared to controls in the pooled sample (RR = 2.469, 95% confidence interval = 1.848-3.300). Age did not significantly modify the RR. CONCLUSIONS: MVP is significantly more prevalent in patients with PD than in controls. This meta-analysis of published studies is sufficient to establish an association between PD and MVP; nevertheless, it is not clear that the association is specific to PD. Patients with PD should be evaluated for MVP to decrease possible negative adverse consequences of MVP.

Evolution of Mitral Valve Prolapse: Insights From the Framingham Heart Study.

BACKGROUND: Longitudinal studies of mitral valve prolapse (MVP) progression among unselected individuals in the community, including those with nondiagnostic MVP morphologies (NDMs), are lacking. METHODS AND RESULTS: We measured longitudinal changes in annular diameter, leaflet displacement, thickness, anterior/posterior leaflet projections onto the annulus, coaptation height, and mitral regurgitation jet height in 261 Framingham Offspring participants at examination 5 who had available follow-up imaging 3 to 16 years later. Study participants included MVP (n=63); NDMs, minimal systolic displacement (n=50) and the abnormal anterior coaptation phenotype (n=10, with coaptation height >40% of the annulus similar to posterior MVP); plus 138 healthy referents without MVP or NDMs. At follow-up, individuals with MVP (52% women, 57±11 years) had greater increases of leaflet displacement, thickness, and jet height than referents (all P<0.05). Eleven participants with MVP (17%) had moderate or more severe mitral regurgitation (jet height ≥5 mm) and 5 others (8%) underwent mitral valve repair. Of the individuals with NDM, 8 (80%) participants with abnormal anterior coaptation progressed to posterior MVP; 17 (34%) subjects with minimal systolic displacement were reclassified as either posterior MVP (12) or abnormal anterior coaptation (5). In comparison with the 33 participants with minimal systolic displacement who did not progress, the 17 who progressed had greater leaflet displacement, thickness, coaptation height, and mitral regurgitation jet height (all P<0.05). CONCLUSIONS: NDM may evolve into MVP, highlighting the clinical significance of mild MVP expression. MVP progresses to significant mitral regurgitation over a period of 3 to 16 years in one-fourth of individuals in the community. Changes in mitral leaflet morphology are associated with both NDM and MVP progression.

Familial clustering of mitral valve prolapse in the community.

BACKGROUND: Knowledge of mitral valve prolapse (MVP) inheritance is based on pedigree observation and M-mode echocardiography. The extent of familial clustering of MVP among unselected individuals in the community using current, more specific echocardiographic criteria is unknown. In addition, the importance of nondiagnostic MVP morphologies (NDMs; first described in large pedigrees) has not been investigated in the general population. We hypothesized that parental MVP and NDMs increase the risk of offspring MVP. METHODS AND RESULTS: Study participants were 3679 Generation 3 individuals with available parental data in the Offspring or the New Offspring Spouse cohorts. MVP and NDMs were distinguished by leaflet displacement >2 versus ≤2 mm beyond the mitral annulus, respectively. We compared MVP prevalence in Generation 3 participants with at least 1 parent with MVP (n=186) with that in individuals without parental MVP (n=3493). Among 3679 participants (53% women; mean age, 40±9 years), 49 (1%) had MVP. Parental MVP was associated with a higher prevalence of MVP in Generation 3 participants (10 of 186, 5.4%) compared with no parental MVP (39 of 3493, 1.1%; adjusted odds ratio, 4.51; 95% confidence interval, 2.13-9.54; P<0.0001). When parental NDMs were examined alone, the prevalence of Generation 3 MVP remained higher (12 of 484, 2.5%) compared with those without parental MVP or NDMs (27 of 3009, 0.9%; adjusted odds ratio, 2.52; 95% confidence interval, 1.25-5.10; P=0.01). CONCLUSIONS: Parental MVP and NDMs are associated with increased prevalence of offspring MVP, highlighting the genetic substrate of MVP and the potential clinical significance of NDMs in the community.

Echocardiographic evaluation in subjects with α1-Antitrypsin deficiency.

BACKGROUND: α1-Antitrypsin (AAT) deficiency (AATD) is a genetic condition associated with early-onset panacinar emphysema and, less often, vascular disease. Recently, abnormal elastic properties of ascending aortic wall were described in ZZ genotype AATD subjects who incidentally showed an increased left ventricular mass. MATERIALS AND METHODS: To evaluate biventricular dimensions, valvular apparatus, systolic and diastolic function, 33 AATD subjects with ZZ genotype and 33 healthy subjects matched for age and sex underwent a complete echocardiographic assessment. RESULTS: Compared to controls, AATD subjects showed increased left ventricular mass (160 ± 59 g vs. 121 ± 70 g, P < 0.001), a higher incidence of left and right ventricular diastolic dysfunction (30% vs. 16%, P < 0.001 and 45% vs. 20%, P < 0.001, respectively) and mitral valve prolapse (35% vs. 6%, P < 0.001). In contrast, there was no difference between the two groups in diameters and systolic function of both ventricles and in the ejection fraction of left ventricle. The functions of aortic and tricuspidal valves were also similar. CONCLUSIONS: In the presence of greater left ventricular mass, a significantly higher incidence of left and right ventricular diastolic dysfunction and mitral valve prolapse occurs in AATD subjects (ZZ genotype). These findings strongly suggest an abnormal remodelling process in cardiac tissue in AATD.

Mitral valve disease in patients with Marfan syndrome undergoing aortic root replacement.

BACKGROUND: Cardiac manifestations of Marfan syndrome include aortic root dilation and mitral valve prolapse (MVP). Only scant data exist describing MVP in patients with Marfan syndrome undergoing aortic root replacement. METHODS AND RESULTS: We retrospectively analyzed data from 166 MFS patients with MVP who were enrolled in a prospective multicenter registry of patients who underwent aortic root aneurysm repair. Of these 166 patients, 9% had mitral regurgitation (MR) grade >2, and 10% had MR grade 2. The severity of MVP and MR was evaluated by echocardiography preoperatively and ≤ 3 years postoperatively. Forty-one patients (25%) underwent composite graft aortic valve replacement, and 125 patients (75%) underwent aortic valve-sparing procedures; both groups had similar prevalences of MR grade >2 (P=0.7). Thirty-three patients (20%) underwent concomitant mitral valve (MV) intervention (repair, n=29; replacement, n=4), including all 15 patients with MR grade >2. Only 1 patient required MV reintervention during follow-up (mean clinical follow-up, 31 ± 10 months). Echocardiography performed 21 ± 13 months postoperatively revealed MR >2 in only 3 patients (2%). One early death and 2 late deaths occurred. CONCLUSIONS: Although the majority of patients with Marfan syndrome who undergo elective aortic root replacement have MVP, only 20% have concomitant MV procedures. These concomitant procedures do not seem to increase operative risk. In patients with MR grade ≤ 2 who do not undergo a concomitant MV procedure, the short-term incidence of progressive MR is low; however, more follow-up is needed to determine whether patients with MVP and MR grade ≤ 2 would benefit from prophylactic MV intervention.

Mitral valve prolapse.

Mitral valve prolapse is defined as abnormal bulging of the mitral valve leaflets into the left atrium during ventricular systole. Mitral valve prolapse is a common condition that is a risk factor for mitral regurgitation, congestive heart failure, arrhythmia, and endocarditis. Myxomatous degeneration is the most common cause of mitral prolapse in the United States and Europe, and progression of myxomatous mitral prolapse is the most common cause of mitral regurgitation that requires surgical treatment. Myxomatous degeneration appears to have genetic etiology. The genetics of myxomatous degeneration is complex and not fully worked out; it appears to be heterogeneous with multi-gene, multi-chromosomal autosomal dominance with incomplete penetrance. The molecular disorder of myxomatous degeneration appears to consist of a connective tissue disorder with altered extracellular matrix status and involves the action of matrix metalloproteinase, cysteine endoproteases, and tenomodulin. Treatment of mitral prolapse with regurgitation is complex, and the technological advances that are currently in development will be challenging and controversial.

Genetics of valvular heart disease.

Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease.

[Connective tissue dysplasia as a reason of recurrent inguinal hernia].

The examination results of 78 patients with recurrent inguinal hernia revealed presence of systemic connective tissue abnormalities in addition to dysplasia of posterior wall of inguinal canal in 48 (61.6%) patients. Hernial disease was observed in 37 (47.4%) patients including umbilical hernia in 12 cases, femoral hernia in 8 patients, hiatal hernia in 3 patients and bilateral inguinal hernia in 14 cases. Group of other diseases included varicose veins of lower limbs in 15 (19.2%) patients, mitral valve prolapse in 3 (3.8%) patients, violation of skin elasticity (striae) in 6 (7.7%) cases, diverticulum of bladder in 2 (2.6%) patients, diverticulum of esophagus in 1 (1.3%) patient, diverticulosis of small intestine in 2 (2.6%) cases. Our data prove that inguinal hernia is local manifestation of systemic disease.