scholarly journals Mitral Valve Prolapse and Its Motley Crew‐Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition

2021 ◽  
Author(s):  
Jordan E. Morningstar ◽  
Annah Nieman ◽  
Christina Wang ◽  
Tyler Beck ◽  
Andrew Harvey ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Fragile X ◽  
Case Reports ◽  
Connective Tissue Diseases ◽  
Pseudoxanthoma Elasticum ◽  
Genetic Syndromes ◽  
Mitral Valve Leaflet ◽  
Cardiovascular Morbidity And Mortality ◽  
Heart Condition

Abstract Mitral valve prolapse (MVP) is a commonly occurring heart condition defined by enlargement and superior displacement of the mitral valve leaflet(s) during systole. Although commonly seen as a standalone disorder, MVP has also been described in case reports and small studies of patients with various genetic syndromes. In this review, we analyzed the prevalence of MVP within syndromes where an association to MVP has previously been reported. We further discussed the shared biological pathways that cause MVP in these syndromes, as well as how MVP in turn causes a diverse array of cardiac and noncardiac complications. We found 105 studies that identified patients with mitral valve anomalies within 18 different genetic, developmental, and connective tissue diseases. We show that some disorders previously believed to have an increased prevalence of MVP, including osteogenesis imperfecta, fragile X syndrome, Down syndrome, and Pseudoxanthoma elasticum, have few to no studies that use up‐to‐date diagnostic criteria for the disease and therefore may be overestimating the prevalence of MVP within the syndrome. Additionally, we highlight that in contrast to early studies describing MVP as a benign entity, the clinical course experienced by patients can be heterogeneous and may cause significant cardiovascular morbidity and mortality. Currently only surgical correction of MVP is curative, but it is reserved for severe cases in which irreversible complications of MVP may already be established; therefore, a review of clinical guidelines to allow for earlier surgical intervention may be warranted to lower cardiovascular risk in patients with MVP.

Mitral valve prolapse and aortic dilatation in the fragile X syndrome

1984 ◽  
Vol 17 (1) ◽  
pp. 123-131 ◽  
Author(s):  
Randi J. Hagerman ◽  
David P. Synhorst ◽  
John M. Opitz
Keyword(s):  
Mitral Valve ◽  
Fragile X Syndrome ◽  
Mitral Valve Prolapse ◽  
Fragile X ◽  
Aortic Dilatation

scholarly journals P290 Differences in cardiac dimensions in mitral valve prolapse with or without Barlow phenotype

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
V Kamoen ◽  
S Calle ◽  
T De Backer ◽  
F Timmermans
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Mitral Valve Prolapse ◽  
Systolic Pressure ◽  
Connective Tissue Diseases ◽  
Left Atrial Volume ◽  
Left Ventricular ◽  
Volume Index ◽  
Left Atrial Volume Index ◽  
Ventricular Systolic Pressure

Abstract Background Mitral valve prolapse (MVP) is a common cause of chronic mitral regurgitation (MR). Barlow’s disease (BD) and fibro-elastic deficiency (FED) are two major entities of MVP affecting the connective tissue of the mitral valve, but both have a different underlying pathophysiology and phenotype. In some connective tissue diseases (CTD), it has been suggested that ventricular dysfunction occurs despite absence of MR, suggesting that CTD directly involve the myocardium. We therefore investigated whether patients with BD have different cardiac dimensions compared to FED, after correcting for MR severity grade. Methods 134 patients with MVP and chronic MR were prospectively included. MR was graded carefully by echocardiography using a multi-parametric approach. The morphology of the mitral valve prolapse was specified as definite Barlow (n = 45) or non-Barlow (n = 89; FED, flail leaflet or unspecified etiology) by two experienced echocardiographers. Results In our cohort, MR was significantly more severe in the non-Barlow group compared to typical BD group (regurgitant volume (RV) 51 vs 33 ml, p = 0.021; right ventricular systolic pressure, 40 vs 34 mmHg, p= 0.05, left atrial volume index, 51 vs 42 ml/m², p = 0.07, respectively). However, there was a trend towards higher left ventricular end-diastolic diameter index (LVEDDi, 27.7 vs 29 mm, p = 0.07) and a significantly higher end-diastolic volume index (LVEDVi, 62 vs 71 ml/m², p= 0.02) in the Barlow group, despite similar ejection fractions and much less MR in the Barlow group. This resulted in a significantly higher RV/LVEDV ratio in the non-Barlow group compared to the Barlow group (42% vs 23%, p = 0.001). Similarly, the LA volume/LVEDV ratio was significantly lower in the Barlow cohort (63 vs 79%, p= 0.026). There were no significant differences in aortic dimensions between groups. Conclusions We describe for the first time that compared to non-Barlow (mostly FED), patients with MVP due to typical Barlow disease have larger ventricular dimensions and volumes, which are disproportionate to the degree of MR. We therefore hypothesize that the connective tissue alterations in these patients may also involve the myocardium resulting in LV dilation independent of MR. Further investigation and clinical implications of these findings is mandatory.

scholarly journals Role of heritable connective tissue diseases phenotypes in assessing the risk for internal diseases

2014 ◽  
Vol 95 (4) ◽  
pp. 501-505
Author(s):  
A V Tyurin ◽  
R A Davletshin ◽  
R M Muratova
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Mitral Valve Prolapse ◽  
Musculoskeletal Diseases ◽  
Connective Tissue Diseases ◽  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Systemic Manifestations

Aim. To identify the prevalence of main phenotypes of polygenic heritable connective tissue diseases in patients with internal diseases and to assess the prevalence of different internal diseases in such patients. Methods. The study involved 600 patients (254 males, 346 females) aged 18 to 64 years. Average age of males was 52±3.8 years, females - 47±2.2 years. Patients were examined to reveal the signs of different phenotypes of heritable connective tissue diseases in patients with internal diseases, as well as the severity of connective tissue diseases, and possibilities for it screening using the wrist and thumb hypermobility tests. Results. Signs of heritable connective tissue diseases were revealed in 147 (24.5%) patients with internal diseases. In females, those signs were observed in 104 (30.0%) cases, of which 44 (42.3%) were graded as mild, 35 (33.7%) - moderate, 25 (24.0%) - severe. In males, signs of heritable connective tissue diseases were revealed in 43 cases (16.9%), including mild - 17 (39.5%), moderate - 14 (32.5%) and severe - 12 (28.0%). Ehlers-like phenotype was the most common (52.0%), Marfan-like phenotype was observed in 14.0% of cases, primary mitral valve prolapse was diagnosed in 7.0% of patients, unclassifiable phenotype was observed in 11.0% of cases. Joint hypermobility syndrome was revealed in 31.0% of patients, presenting both as specific phenotypes (Marfan-like, Ehlers-like) and as a self-phenotype (31.9% of all the patients with heritable connective tissue diseases phenotype). Benign joint hypermobility was observed in 6.1% of cases. Symptoms of heritable connective tissue diseases were more frequent in patients with gastrointestinal and musculoskeletal diseases. Conclusion. The most common phenotype of heritable connective tissue diseases is Ehlers-like with skin, bone and systemic manifestations. Presence of heritable connective tissue diseases was most commonly associated with gastrointestinal and musculoskeletal diseases.

Mitral valve prolapse in healthy relatives of patients with familial pseudoxanthoma elasticum

2000 ◽  
Vol 85 (10) ◽  
pp. 1268-1271 ◽  
Author(s):  
Pietro Rubegni ◽  
Sergio Mondillo ◽  
Giovambattista De Aloe ◽  
Eustachio Agricola ◽  
Anna Maria Bardelli ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Pseudoxanthoma Elasticum

Aortic root dilatation and mitral valve prolapse in the fragile X syndrome

1986 ◽  
Vol 23 (1-2) ◽  
pp. 189-194 ◽  
Author(s):  
James P. Loehr ◽  
David P. Synhorst ◽  
Robert R. Wolfe ◽  
Randi J. Hagerman ◽  
John M. Opitz ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Fragile X Syndrome ◽  
Aortic Root ◽  
Mitral Valve Prolapse ◽  
Fragile X ◽  
Aortic Root Dilatation

scholarly journals Criteria for adverse prognosis for mitral valve prolapse.

2019 ◽  
Vol 21 (4) ◽  
pp. 64-66
Author(s):  
Yu V Ovchinnikov ◽  
L R Gadzhieva ◽  
M V Palchenkova ◽  
N V Muracheva ◽  
S B Tkachenko
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Left Atrial ◽  
Poor Prognosis ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Severe Mitral Regurgitation ◽  
Valve Leaflet ◽  
Ecg Monitoring ◽  
Mitral Valve Leaflet

On the basis of a survey of 151 patients, diagnostic criteria for an unfavorable prognosis of mitral valve prolapse were revealed according to echocardiography. Transthoracic and transesophageal echocardiography, daily Holter ECG monitoring were performed. Repeated echocardiography was performed in 12-18 months. Statistical analysis of the material allowed us to identify criteria for poor prognosis of mitral valve prolapse according to echocardiography: severe mitral regurgitation, mitral valve leaflet thickness in diastole 6 mm or more, dilatation of the left ventricular cavity, dilatation of the left atrial cavity, dilatation of the mitral ring.

Cardiovascular Abnormalities in Children With Fragile X Syndrome

PEDIATRICS ◽  
1993 ◽  
Vol 91 (4) ◽  
pp. 714-715
Author(s):  
Linda S. Crabbe ◽  
Lusia Hornstein ◽  
Andrew S. Bensky ◽  
David C. Schwartz
Keyword(s):  
Mitral Valve ◽  
Young Children ◽  
Fragile X Syndrome ◽  
Aortic Root ◽  
Mitral Valve Prolapse ◽  
Fragile X ◽  
Late Childhood ◽  
Childhood And Adolescence ◽  
Cardiac Abnormalities ◽  
Cardiovascular Abnormalities

It has been suggested by several authors that the prevalence of mitral valve prolapse and aortic root dilation is increased in individuals with the fragile X syndrome. The prevalence of these abnormalities in young children with fragile X has not been established. Sixteen boys and 1 girl 13 years or younger were studied. Only 1 child (6%) had the typical examination findings of mitral valve prolapse, although his echocardiogram was normal. From this study it appears that cardiac abnormalities in fragile X syndrome develop in late childhood and adolescence. It seems important to follow these children carefully so that these cardiac abnormalities can be documented when they do develop.

scholarly journals Staphylococcus lugdunensisEndocarditis Complicated by Embolism in an 18-Year-Old Woman with Mitral Valve Prolapse

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Rosaria Pecoraro ◽  
Antonino Tuttolomondo ◽  
Gaspare Parrinello ◽  
Antonio Pinto ◽  
Giuseppe Licata
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Common Iliac Artery ◽  
Antibiotic Sensitivity ◽  
Prosthetic Valve Endocarditis ◽  
Blood Cultures ◽  
Coagulase Negative Staphylococci ◽  
Staphylococcus Lugdunensis ◽  
Mitral Valve Leaflet ◽  
History Of

Staphylococcus lugdunensisis a coagulase-negativestaphylococcus(CNS). It is a major cause of prosthetic valve endocarditis; mitral valve prolapse (MVP) has emerged as a prominent predisposing structural cardiac abnormality. We describe a case ofStaphylococcus lugdunensisendocarditis in an 18-year-old woman with preexisting mitral valve prolapse complaining of fever, a one-month history of continuous-remittent fever ( 38.6°C). The transthoracic echocardiogram revealed large vegetation on the anterior mitral valve leaflet flopping from the atrial side to the ventricular side. Five sets of blood cultures were positive for coagulase-negative staphylococci. During hospitalization, after two weeks of antibiotic therapy, the patient complained of sudden pain in her right leg associated with numbness. Lower limb arterial Doppler ultrasound showed an arterial thrombosis of right common iliac artery. Transfemoral iliac embolectomy was promptly performed and on septic embolusS. lugdunensiswith the same antibiotic sensitivity and the same MIC values was again isolated. Our patient underwent cardiac surgery: triangular resection of the A2 with removal of infected tissue including vegetation. Our case is an example of infective endocarditis byS. lugdunensison native mitral valve in a young woman of 18 with anamnesis valve prolapse.

Pseudoxanthoma Elasticum and Mitral-Valve Prolapse

1982 ◽  
Vol 307 (4) ◽  
pp. 228-231 ◽  
Author(s):  
Mark G. Lebwohl ◽  
Douglas Distefano ◽  
Philip G. Prioleau ◽  
Martin Uram ◽  
Lawrence A. Yannuzzi ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Pseudoxanthoma Elasticum

scholarly journals P756 Paradoxycal restricted motion in diastole associated to mitral valve prolapse/dystrophy: a frequent finding

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
T Le Tourneau ◽  
C Cueff ◽  
M Marrec ◽  
N Piriou ◽  
R Capoulade ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Mitral Annulus ◽  
Valve Leaflet ◽  
Filamin A ◽  
Mitral Valve Leaflet ◽  
Frequent Finding ◽  
Valve Annulus ◽  
Leaflet Prolapse ◽  
Funding Acknowledgements

Abstract Funding Acknowledgements PHRCI mitral 2012 Background Filamin-A mitral valve prolapse/dystrophy (FLNA-MVP) phenotype associates moderate MVP and a paradoxical restricted motion in diastole. Purpose We aimed to assess the association of MVP with restricted motion in diastole in MVP patients (restricted MVP). Methods We prospectively enrolled 433 MVP probands (57 ± 16 years). Patients underwent a clinical examination and a comprehensive echocardiographic analysis of mitral valve apparatus. Results Among the 433 probands, 27 (6.2%, 95% CI 3.9-8.5) had both a MVP and a doming aspect in diastole. Patients with restricted MVP exhibited shorter posterior chordae tendinaes (24.8 ± 6.3 vs 27.2 ± 5.9 mm, P = 0.037), and a shorter distance between papillary muscle (PM) tips and mitral annulus (anterior PM: P = 0.0001; posterior PM: P = 0.009). Anterior mitral valve leaflet was lengthened (15.5 ± 2.4 vs 14.3 ± 2.6 mm/m², P = 0.018), but leaflet thickness, leaflet prolapse, and mitral valve annulus did not differ between the 2 groups. Bicuspid aortic valve was more frequent in patients with restricted phenotype (14.8 vs 2.9%, P < 0.05). Familial recurrence of restricted MVP was identified even in the absence of Filamin-A mutation. Conclusion Restricted MVP is a quite frequent finding in MVP patients and is associated with PM tips location closer to mitral annulus. Restricted MVP can be regarded as a third type of MVP beside myxomatous Barlow disease and fibro-elastic deficiency MVP.

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