Last update 21 Mar 2024
Mitral Valve Prolapse
Last update 21 Mar 2024
Basic Info
Synonyms Asynchronous valve closure syndrome, BARLOW SYNDROME, Barlow's syndrome + [81] |
Introduction Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA. |
Related
MechaniSms and ouTcomes of arrhythmogEnic mitraL vaLve diseAse in Patients Undergoing Mitral Valve Surgery
Regional Strain Patterns in Mitral Valve Prolapse: Diagnostic and Prognostic Implications. - MVP Strain
Femoral or axillary cannulation of the heart-lung machine in minimally invasive heart valve surgery. - FAMI
100 Clinical Results associated with Mitral Valve Prolapse
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100 Translational Medicine associated with Mitral Valve Prolapse
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01 Mar 2024Radiology. Imaging cancer
Radiologic-Pathologic Correlation of Nonmass Enhancement Contiguous with Malignant Index Breast Cancer Masses at Preoperative Breast MRI.
Article
Author: Derek L Nguyen ; Mira Lotfalla ; Ashley Cimino-Mathews ; Mehran Habibi ; Emily B Ambinder
Purpose To determine the pathologic features of nonmass enhancement (NME) directly adjacent to biopsy-proven malignant masses (index masses) at preoperative MRI and determine imaging characteristics that are associated with a malignant pathologic condition. Materials and Methods This retrospective study involved the review of breast MRI and mammography examinations performed for evaluating disease extent in patients newly diagnosed with breast cancer from July 1, 2016, to September 30, 2019. Inclusion criteria were limited to patients with an index mass and the presence of NME extending directly from the mass margins. Wilcoxon rank sum test, Fisher exact test, and χ2 test were used to analyze cancer, patient, and imaging characteristics associated with the NME diagnosis. Results Fifty-eight patients (mean age, 58 years ± 12 [SD]; all women) were included. Malignant pathologic findings for mass-associated NME occurred in 64% (37 of 58) of patients, 43% (16 of 37) with ductal carcinoma in situ and 57% (21 of 37) with invasive carcinoma. NME was more likely to be malignant when associated with an index cancer that had a low Ki-67 index (<20%) (P = .04). The presence of calcifications at mammography correlating with mass-associated NME was not significantly associated with malignant pathologic conditions (P = .19). The span of suspicious enhancement measured at MRI overestimated the true span of disease at histologic evaluation (P < .001), while there was no evidence of a difference between span of calcifications at mammography and true span of disease at histologic evaluation (P = .27). Conclusion Mass-associated NME at preoperative MRI was malignant in most patients with newly diagnosed breast cancer. The span of suspicious enhancement measured at MRI overestimated the true span of disease found at histologic evaluation. Keywords: Breast, Mammography © RSNA, 2024 See also the commentary by Newell in this issue.
19 Feb 2024European journal of medical genetics
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Article
Author: Engin Köse ; Çiğdem Seher Kasapkara ; Aslı İnci ; Yılmaz Yıldız ; İlknur Sürücü Kara ; Ayça Burcu Kahraman ; Leyla Tümer ; Ali Dursun ; Fatma Tuba Eminoğlu
BACKGROUND:
Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics.
METHOD:
Sixteen patients diagnosed with alpha-mannosidosis who presented to four pediatric metabolic units were included in the study. The patients' medical records were analyzed and data on demographics, clinical presentation and laboratory findings were recorded.
RESULTS:
Of the 16 patients (6 females, 10 males) with alpha mannosidosis included in the study, the mean age at the time of diagnosis was 79.4 ± 56.1 (16-208) months, and the mean diagnosis delay time was 57.9 ± 51.9 (4-181) months. Hearing loss was the primary manifestation found in seven out of 16 patients (43.8%), followed by speech delay in 37.8%. On clinical follow-up, 87.5% of patients experienced recurrent infections, mainly in the upper respiratory tract, with 12 requiring the use of a hearing aid. Hepatomegaly was found in six out of 13 patients who received abdominal ultrasonography; two out of 12 patients who underwent echocardiography were found to have mitral valve prolapse (16.6%). Upon neurological evaluation, five patients displayed no neurological manifestation. Delayed language development was observed in nine (56.3%) patients, intellectual disability in eight (50%) patients, and hypertonicity was identified in one (6.3%) patient with the severe form of the disease. Homozygous c.2477C>A (p.Ser826Ter) and homozygous c.967G>A (p.Glu323Lys) novel variants were detected in four patients and one patient, respectively. The most common variant observed in the study was c.2477C>A (p.Ser826Ter).
CONCLUSION:
The present study identified two novel MAN2B1 variants. An evaluation of the long-term outcome of alpha-mannosidosis, in which the early initiation of enzyme replacement therapy (ERT) may lead to a better clinical outcome, can permit a better analysis of the effect of ERT on the natural progression of the disease.
19 Feb 2024European journal of heart failure
Tricuspid regurgitation: Frequency, clinical presentation, management and outcome among patients with severe left-sided valvular heart disease in Europe. Insights from the ESC-EORP Valvular Heart Disease II survey.
Article
Author: Julien Dreyfus ; Monika Komar ; David Attias ; Michele De Bonis ; Frank Ruschitzka ; Bogdan A Popescu ; Cécile Laroche ; Christophe Tribouilloy ; Alexander Bogachev Prokophiev ; Vaida Mizariene ; Jeroen J Bax ; Aldo Pietro Maggioni ; David Messika-Zeitoun ; Alec Vahanian ; Bernard Iung ; on behalf of the EORP VHD II Registry Investigators Group
AIMS:
Tricuspid regurgitation (TR) is commonly observed in patients with severe left-sided valvular heart disease (VHD). This study sought to assess TR frequency, management and outcome in this population.
METHODS AND RESULTS:
Among 6883 patients with severe native left-sided VHD or previous left-sided valvular intervention enrolled in the EURObservational Research Programme prospective VHD II survey, moderate or severe TR was very frequent in patients with severe mitral VHD (30% when mitral stenosis, 36% when mitral regurgitation [MR]), especially in patients with secondary MR (46%), and rare in patients with severe aortic VHD (4% when aortic stenosis, 3% when aortic regurgitation). An increase in TR grade was associated with a more severe clinical presentation and a poorer 6-month survival (p < 0.0001). Rates of concomitant tricuspid valve (TV) intervention at the time of left-sided heart valve surgery were high at the time of mitral valve surgery (50% when mitral stenosis, 41% when MR). Concordance between class I indications (patients with severe TR) for concomitant TV surgery at the time of left-sided valvular heart surgery according to guidelines and real-practice decision-making was very good (88% overall, 95% in patients operated on for MR).
CONCLUSION:
In this large international prospective survey among patients with severe left-sided VHD, moderate/severe TR was frequent in patients with mitral valve disease and was associated with a poorer outcome as TR grade increased. In patients with severe TR, compliance to guidelines for class I indications for concomitant TV surgery at the time of left-sided heart valve surgery was very good.
27 Jan 2023
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