Humans ; Prevalence ; Mitral Valve ; Mitral Valve Prolapse ; Adventitia

Humans ; Prevalence ; Mitral Valve ; Mitral Valve Prolapse ; Adventitia

Adventitia ; Humans ; Mitral Valve ; Mitral Valve Prolapse

OBJECTIVE: We aimed to investigate the diagnostic accuracy of cardiac computed tomography (CT) for the detection of mitral valve (MV) prolapse in mitral regurgitation (MR) with surgical findings as the standard reference, and to assess the predictability of MV replacement based on morphologic CT findings. MATERIALS AND METHODS: A total of 156 patients who had undergone preoperative cardiac CT and subsequently received MV surgery due to severe MR were retrospectively enrolled. Non-repairable MV was defined when at least one of the following conditions was met: 1) anterior leaflet prolapse, 2) bi-leaflet prolapse, or 3) valve morphology (leaflet thickening, calcification, or mitral annular calcification [MAC]). Diagnostic performance of CT for the detection of the prolapsed segment was assessed with surgical findings as the standard reference. Logistic regression analysis was performed to evaluate the value of CT findings to predict actual valve replacement. RESULTS: During surgery, MV prolapse was identified in 72.1%. The sensitivity, specificity, and diagnostic accuracy for the detection of MV prolapse were 99.1%, 81.4%, and 94.2%, respectively, per patient. One-hundred eighteen patients (75.6%) underwent MV repair and the remaining 38 patients received MV replacement. Bi-leaflet prolapse and valve morphology were independent predictors of valve replacement after adjusting for clinical variables (adjusted odds ratio, [OR] 8.63 for bi-leaflet prolapse; OR, 4.14 for leaflet thickening; and OR, 5.37 for leaflet calcium score > 5.6; p < 0.05). CONCLUSION: Cardiac CT can have high diagnostic performance for detecting the prolapsed segment of the MV and predictability of valve replacement before surgery. Bi-leaflet prolapse and valve morphology, such as leaflet thickening, or calcification or MAC, are the most important predictors of valve replacement.
Calcium ; Humans ; Logistic Models ; Mitral Valve Insufficiency ; Mitral Valve Prolapse ; Mitral Valve ; Odds Ratio ; Prolapse ; Retrospective Studies ; Sensitivity and Specificity

Genome-wide association study (GWAS) is a powerful tool for identifying the genetic causes of various diseases. This study was conducted to identify genomic variation in Maltese dog genomes associated with degenerative mitral valve disease (DMVD) development and to evaluate the association of each biological condition with DMVD in Maltese dogs. DNA was extracted from blood samples obtained from 48 Maltese dogs (32 with DMVD and 16 controls). Genome-wide single nucleotide polymorphism (SNP) genotyping was performed. The top 30 SNPs from each association of various conditions and genetic variations were mapped to their gene locations. A total of 173,662 loci were successfully genotyped, with an overall genotype completion rate of 99.41%. Quality control analysis excluded 46,610 of these SNPs. Manhattan plots were produced using allelic tests with various candidate clinical conditions. A significant peak of association was observed between mitral valve prolapse (MVP) and SNPs on chromosome 17. The present study revealed significant SNPs in several genes associated with cardiac function, including PDZ2, Armadillo repeat protein detected in velo-cardio-facial syndrome, catenin (cadherin-associated protein) alpha 3, low-density lipoprotein receptor class A domain containing protein 4, and sterile alpha motif domain containing protein 3. To our knowledge, this is the first study of a genetic predisposition to DMVD in Maltese dogs. Although only a limited number of cases were analyzed, these data could be the basis for further research on the genetic predisposition to MVP and DMVD in Maltese dogs.
Animals ; Armadillos ; Chromosomes, Human, Pair 17 ; DiGeorge Syndrome ; DNA ; Dogs ; Genetic Predisposition to Disease ; Genetic Variation ; Genome ; Genome-Wide Association Study ; Genotype ; Mitral Valve Prolapse ; Mitral Valve ; Polymorphism, Single Nucleotide ; Quality Control ; Receptors, Lipoprotein

A 58-year-old male patient with situs inversus totalis, a rare congenital malformation characterized by all asymmetric organs being formed as the mirror images of their normal morphologies, underwent mitral valve repair due to mitral valve prolapse. This case was reported to suggest that anesthesiologists should thoroughly understand the anatomy of these types of patients before providing cardiac anesthesia that often requires advanced monitoring and rely on their accurate interpretation. Accordingly, a few key points will be discussed with emphasis on reversing lead placement during electrocardiogram monitoring, using the left internal jugular vein for pulmonary artery catheterization, and firmly comprehending mirror image heart morphology to better conduct transesophageal echocardiography.
Anesthesia ; Catheterization, Swan-Ganz ; Echocardiography, Transesophageal ; Electrocardiography ; Heart ; Humans ; Jugular Veins ; Male ; Middle Aged ; Mitral Valve ; Mitral Valve Prolapse ; Situs Inversus ; Thoracic Surgery

BACKGROUND: Overestimation of the severity of mitral regurgitation (MR) by the proximal isovelocity surface area (PISA) method has been reported. We sought to test whether angle correction (AC) of the constrained flow field is helpful to eliminate overestimation in patients with eccentric MR. METHODS: In a total of 33 patients with MR due to prolapse or flail mitral valve, both echocardiography and cardiac magnetic resonance image (CMR) were performed to calculate regurgitant volume (RV). In addition to RV by conventional PISA (RV(PISA)), convergence angle (α) was measured from 2-dimensional Doppler color flow maps and RV was corrected by multiplying by α/180 (RV(AC)). RV measured by CMR (RV(CMR)) was used as a gold standard, which was calculated by the difference between total stroke volume measured by planimetry of the short axis slices and aortic stroke volume by phase-contrast image. RESULTS: The correlation between RV(CMR) and RV by echocardiography was modest [RV(CMR) vs. RV(PISA) (r = 0.712, p < 0.001) and RV(CMR) vs. RV(AC) (r = 0.766, p < 0.001)]. However, RV(PISA) showed significant overestimation (RV(PISA) - RV(CMR) = 50.6 ± 40.6 mL vs. RV(AC) - RV(CMR) = 7.7 ± 23.4 mL, p < 0.001). The overall accuracy of RV(PISA) for diagnosis of severe MR, defined as RV ≥ 60 mL, was 57.6% (19/33), whereas it increased to 84.8% (28/33) by using RV(AC) (p = 0.028). CONCLUSION: Conventional PISA method tends to provide falsely large RV in patients with eccentric MR and a simple geometric AC of the proximal constraint flow largely eliminates overestimation.
Diagnosis ; Echocardiography ; Humans ; Methods* ; Mitral Valve ; Mitral Valve Insufficiency* ; Prolapse ; Stroke Volume

BACKGROUND: Left atrial (LA) remodeling develops as a result of longstanding pressure overload. However, determinants and clinical outcome of excessive remodeling, so called giant left atrium (GLA), are not clear. METHODS: Clinical characteristics of patients with GLA (antero-posterior diameter higher than 65 mm), including echo-Doppler parameters, and follow-up clinical outcomes from a tertiary referral hospital were investigated. RESULTS: Among 68519 consecutive primary patients who underwent echocardiography over a period of 10 years, data from 163 GLA cases (0.24%) were analyzed. Main causes were significant rheumatic mitral stenosis (n = 58, 36%); other causes comprised significant rheumatic mitral regurgitation (MR; n = 10, 6%), mitral valve (MV) prolapse or congenital mitral valvular disease (MVD) (n = 20, 12%), and functional MR (n = 25, 15%). However, mild rheumatic MV disease (n = 4, 3%) or left ventricular (LV) systolic or diastolic dysfunction without significant MR (n = 46, 28%) were also causes of GLA. During median follow-up of 22 months, 42 cases (26%) underwent composite events. MV surgery was related to lower rate of composite events. In multivariate analysis, MV surgery, elevated pulmonary arterial systolic pressure, and increased LA volume index were independent predictors of future events (p < 0.05) regardless of underlying diseases or history of MV surgery. CONCLUSION: Although rheumatic MVD with atrial fibrillation is the main contributor to GLA, longstanding atrial fibrillation with LV dysfunction but without MVD also could be related to GLA. Even in GLA state, accurate measurement of LA volume is crucial for risk stratification for future events, regardless of underlying disease.
Atrial Fibrillation ; Blood Pressure ; Echocardiography ; Follow-Up Studies ; Heart Atria* ; Humans ; Mitral Valve ; Mitral Valve Insufficiency ; Mitral Valve Stenosis ; Multivariate Analysis ; Prognosis* ; Prolapse ; Tertiary Care Centers

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.
Arachnodactyly ; Child ; Clinical Coding ; Codon, Nonsense ; Connective Tissue ; Cytosine ; Exons ; Female ; Humans ; Marfan Syndrome* ; Microfibrils ; Mitral Valve Prolapse ; Mutation, Missense ; Myopia ; Parents ; Pneumothorax* ; Puberty, Precocious ; Scoliosis ; Wrist

STUDY DESIGN: Retrospective study. PURPOSE: To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. OVERVIEW OF LITERATURE: Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. METHODS: Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. RESULTS: We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). CONCLUSIONS: We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups.
Aneurysm ; Aortic Valve ; Aortic Valve Stenosis ; Bicuspid ; Cardiomyopathies ; Dextrocardia ; Echocardiography ; Female ; Foramen Ovale, Patent ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Incidence ; Medical Records ; Mitral Valve Prolapse ; Retrospective Studies* ; Scoliosis*