Isolated Double Orifice Mitral Valve in a Patient With Autosomal Dominant Polycystic Kidney Disease.
Ontology highlight
ABSTRACT:
SUBMITTER: Digrande K
PROVIDER: S-EPMC10307588 | biostudies-literature | 2023 Jun
REPOSITORIES: biostudies-literature
Publications
Isolated Double Orifice Mitral Valve in a Patient With Autosomal Dominant Polycystic Kidney Disease.
Digrande Kyle K Xu Jennifer J Dineen Elizabeth H EH Lee Andy Y AY
CASE (Philadelphia, Pa.) 20230404 6
Similar Datasets
Project description: Not available
| S-EPMC9366867 | biostudies-literature
Project description:Double orifice mitral valve, despite being an extremely rare entity, may be encountered on routine echocardiographic studies in adults. The varied morphology of the valve may be complicated by coexisting anomalies of the subvalvular apparatus. We present the cases of two patients with this condition and associated papillary muscle anomalies. A thorough echocardiographic study with three-dimensional imaging was pivotal in making a final diagnosis.
| S-EPMC11784732 | biostudies-literature
Project description:Rationale & objectiveUsing OVERTURE (NCT01430494) study data on patient-perceived health, health care utilization, and productivity in autosomal dominant polycystic kidney disease (ADPKD), this research was conducted to characterize the burden of illness in patients with ADPKD and assess whether patient-reported outcome (PRO) assessment scores predict clinical and health-economic outcomes.Study designData were analyzed from a prospective, observational study.Setting & participantsThe study cohort comprised 3,409 individuals with ADPKD in 20 countries who were aged 12-78 years and were in chronic kidney disease (CKD) stages G1-G5 and Mayo risk subclasses 1A-1E.PredictorsScores on PRO instruments, including disease-specific assessments [ADPKD-Impact Scale (ADPKD-IS), and ADPKD-Urinary Impact Scale (ADPKD-UIS)] and generic measures were assessed.OutcomesClinical variables [eg, height-adjusted total kidney volume (htTKV), estimated glomerular filtration rate (eGFR), and abdominal girth] and health-economic outcomes were assessed.Analytical approachAssociations among variables were evaluated using Spearman correlations, logistic regression, and generalized linear mixed effects repeated measures models.ResultsBaseline CKD stage and Mayo risk classification showed little correlation with baseline PRO scores; however, scores on disease-specific instruments and measures of physical functioning were worse at more severe CKD stages. PRO scores predicted hospitalizations and sick days at 6-18 months, with strongest associations noted for the ADPKD-IS. PRO scores were not associated with htTKV and eGFR, but worse PRO scores were associated with greater abdominal girth. Poor baseline ADPKD-IS scores were positively associated with occurrence of ADPKD-related symptoms up to 18 months, including kidney pain (OR, 5.30; 95% CI, 2.75-10.24), hematuria (OR, 4.58; 95% CI, 1.99-10.53), and urinary tract infection (OR, 4.41; 95% CI, 1.93-10.11; P < 0.001 for all).LimitationsA limitation of the study was the maximum 18 months of follow-up available to assess outcomes.ConclusionsPRO scores predicted clinical and health-economic outcomes, such as hospitalization and absence from work, underscoring the importance of quality of life assessment of individuals with ADPKD.Plain-language summaryPatient-reported outcomes (PROs) are increasingly recognized as important parameters for assessing the clinical and humanistic burden of autosomal dominant polycystic kidney disease (ADPKD). We analyzed data from the observational OVERTURE study to better characterize disease impact on quality of life and determine whether patient-perceived burden might predict outcomes. Scores on PRO assessment instruments predicted hospitalizations and sick days at 6-18 months, with associations strongest for the disease-specific ADPKD-Impact Scale. Compared to patients who rated their health-related quality of life as good, those with poor baseline scores were significantly more likely to report ADPKD-related signs and symptoms up to 18 months of follow-up. These findings support using disease-specific PRO assessment instruments to assess and predict the impact of ADPKD.
| S-EPMC10772284 | biostudies-literature
Project description:Patients with autosomal dominant polycystic kidney disease benefit from specialized care over their lifetimes, starting with diagnosis of the condition with ongoing discussion of both the renal course and extra-renal issues. Both renal and extra-renal issues may continue to cause major morbidity even after successful kidney transplant or initiation of RRT, and extra-renal disease aspects should always be considered as part of routine management. In this review, we will focus on updates in pain/depression screening, cardiac manifestations, liver and pancreatic cysts, kidney stone management, and genetic counseling. In some instances, we have shared our current clinical practice rather than an evidence-based guideline. We anticipate more standardization of care after the release of the Kidney Disease Improving Global Outcomes guidelines for management in autosomal dominant polycystic kidney disease later this year.
| S-EPMC10758524 | biostudies-literature
Project description:Double-orifice mitral valve (DOMV) is a rare congenital anomaly consisting of an accessory bridge of fibrous tissue, which divides the mitral valve (MV) into two orifices. The mitral leaflets are essentially normal in most cases, but they can be regurgitant or stenotic. It is most commonly associated with a variety of other cardiac anomalies. Isolated DOMV with normal MV function is very rare. We present here a rare case of congenital DOMV in a 25-year-old female diagnosed by real-time three-dimensional echocardiography (RT3DE). RT3DE enabled complete anatomical and functional assessment of MV apparatus. It added much valuable information over conventional 2DE that helped in establishment of the diagnosis, identification of the anatomical type, and selection of the proper management.
| S-EPMC8021078 | biostudies-literature
Project description: Not available
| S-EPMC11328530 | biostudies-literature
Project description:Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and responsible for 10% of cases of the end stage renal disease (ESRD). Apart from renal manifestations, changes in other organs may be present. In the absence of contraindications, patients with ADPKD and ESRD should be referred to renal transplantation. The ADPKD patient may also need liver transplantation, or combined liver and kidney transplantation. Also, the patient with ADPKD may become a potential organ donor. The aim of our paper is to review the problems that the physicians deal with in ADPKD patients in pre- and post-transplant period.
| S-EPMC2843931 | biostudies-literature
Project description:Autosomal dominant polycystic kidney disease (ADPKD) is an inherited multisystem disorder, characterized by renal and extra-renal fluid-filled cyst formation and increased kidney volume that eventually leads to end-stage renal disease. ADPKD is considered the fourth leading cause of end-stage renal disease in the United States and globally. Care of patients with ADPKD was, for a long time, limited to supportive lifestyle measures, due to the lack of therapeutic strategies targeting the main pathways involved in the pathophysiology of ADPKD. As the first FDA approved treatment of ADPKD, Vasopressin (V2) receptor blocking agent, tolvaptan, is an urgently awaited advance for ADPKD patients. In our review, we also shed some lights on what is beyond Tolvaptan as there are other medications in the pipeline and many medications have been or are currently being studied in clinical trials such as Tesevatinib, Metformin and Pravastatin, with the goal of slowing the rate of progression of ADPKD by reducing the increase in total kidney volume or maintaining eGFR. Here, we review updates in the perspectives and management of ADPKD.
| S-EPMC6716585 | biostudies-literature
Project description: Not available
| S-EPMC6200677 | biostudies-literature
Project description:Double-orifice mitral valve (DOMV), a rare congenital heart disease, is the inspiration behind the transcatheter edge-to-edge repair (TEER). Here we report a successful TEER case in a patient with DOMV with severe regurgitation. The patient's symptoms were greatly improved after the procedure.
| S-EPMC10865215 | biostudies-literature