Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disorder and results in the development of coronary artery disease (CAD). Clinical diagnosis of homozygous HH patients is ...usually straightforward because persistent hypercholesterolemia can produce xanthoma and corneal arcus. However, xanthoma may also be misdiagnosed as skin lesions and could therefore be mistreated. The aim of this case study report is to highlight the plight of patients with FH as means of raising awareness of the condition among dermatologists and health care practitioners, also to determine the genotype-phenotype correlation in severely affected homozygous FH proband patients.
Genetic screening of FH associated genes was performed by Ion Torrent next-generation sequencing and cascade screening by capillary sequencing.
We present two clinical cases with prominent skin lesions seen in a dermatology clinic that were referred to plastic surgery for excision. Genetic testing was performed later, and confirmed common single nucleotide deletion variant (c.2027delG) in the
alleles consequent to a frameshift mutation p.(G676Afs*33). In addition to the
variant, two possibly damaging
variants p.(L3313I) and p.(L1212M) and three damaging variants p.(R19*), p.(G83Q) and p.(S474*) in
and
genes respectively were identified. The
gene variant p.(G83Q) was found to be novel, while others have been previously reported. Both patients were refractory to pharmacological therapies and are currently on lipoprotein apheresis (LA).
The present report indicates the need for increased awareness of FH, among the public and healthcare practitioners and supports the need for diagnostic screening and cascade genetic testing of this high-risk condition, which could ultimately lead to better prevention of CHD in this lethal condition.
Bleeding after transcatheter aortic valve replacement (TAVR) is associated with increased mortality. The predictive value of the HAS-BLED score in TAVR patients is still to be evaluated. We assessed ...the value of the HAS-BLED score to predict in-hospital bleeding and mortality after TAVR and the impact of diferent renal impairment definitions on the predictive value of the score system.
We retrospectively included 574 patients who underwent TAVR at a single center. Study outcomes were 30-day mortality and the composite endpoint of major and life-threatening bleeding as defined by The Valve Academic Research Consortium-2. The predictive value of the HAS-BLED score was calculated and compared to a modified model. The performance of the score was compared using two definitions of renal impairment. Model discrimination was tested using C-statistic and the Net Reclassification Index.
Bleeding occurred in 78 patients (13.59%). HAS-BLED category 3 was a significant predictor of bleeding (OR: 1.99 1.18- 3.37, C-index: 0.56, P=0.01). C-index increased to 0.64 after adding body surface area and extracardiac arteriopathy to the model. The Net Reclassification Index showed an increase in the predic tive value of the model by 11.4% (P=0.002). The C-index increased to 0.61 using renal impairment definition based on creatinine clearance. Operative mortality was significantly associated with the HAS-BLED score (OR: 7.54 95% CI: 2.73- 20.82, C-index: 0.73, P<0.001).
The HAS-BLED score could be a good predictor of in-hospital mortality after TAVR. Its predictive value for bleeding was poor but improved by adding procedure-specific factors and using creatinine clearance to define renal impairment.
Repeat transcatheter mitral valve replacement (rTMVR) has emerged as a new option for the management of high-risk patients unsuitable for repeat surgical mitral valve replacement (rSMVR). The aim of ...this study was to compare hospital outcomes, survival, and reoperations after rTMVR versus surgical mitral valve replacement.
We compared patients who underwent rTMVR (n=22) from 2017 to 2019 (Group 1) to patients who underwent rSMVR (n=98) with or without tricuspid valve surgery from 2009 to 2019 (Group 2). We excluded patients who underwent a concomitant transcatheter aortic valve replacement or other concomitant surgery.
Patients in Group 1 were significantly older (72.5 67-78 vs. 57 52-64 years, P<0.001). There was no diference in EuroSCORE II between groups (6.56 5.47-8.04 vs. 6.74 4.28-11.84, P=0.86). Implanted valve size was 26 (26-29) mm in Group 1 and 25 (25-27) mm in Group 2 (P=0.106). There was no diference in operative mortality between groups (P=0.46). However, intensive care unit (ICU) and hospital stays were shorter in Group 1 (P=0.03 and <0.001, respectively). NYHA class improved significantly in both groups at one year (P<0.001 for both groups). There was no group effect on survival (P=0.84) or cardiac readmission (P=0.26). However, reoperations were more frequent in Group 1 (P=0.01).
Transcatheter mitral valve-in-valve could shorten ICU and hospital stay compared to rSMVR with a comparable mortality rate. rTMVR is a safe procedure; however, it has a higher risk of reoperation. rTMVR can be an option in selected high-risk patients.
Background: The clinical use of transcatheter mitral valve repairis growing. We aimed to compare the clinical and echocardiographic outcomes after transcatheter mitral valve repair using the ...edge-to-edge technique in patients with functional and degenerative mitral regurgitation (MR). Furthermore, we correlated the clinical and echocardiographic measurements. Methods: The study included 111 patients who underwent the MitraClip procedure from 2012 to 2018. The patients were divided into two groups according to the etiology; functional mitral regurgitation (FMR) (n = 88; 79.28%) and degenerative mitral regurgitation (DMR) (n = 23; 20.72%). Results: Advanced age (p = 0.002) and FMR (p = 0.001) increased coronary care unit stay, and history of heart failure hospitalization (p = 0.003). Advanced age (p = 0.022) and FMR (p ＜ 0.001) also increased the duration of hospital stay. Severe renal impairment hazard ratio (HR): 2.6; p ＜ 0.001, female gender (HR: 3.9; p = 0.005), and history of stroke (HR: 5.6; p = 0.065) decreased survival, while post-procedure diuretics improved survival (HR: 0.3; p = 0.024).Moderate residual MR sub-distribution hazard ratio (SHR): 4.1; p = 0.011, lower EuroSCORE (SHR: 0.9; p = 0.013), and lack of β-blockers (SHR: 0.2; p = 0.034) were predictors of MR recurrence. There were no significant correlations between NYHA class and pulmonary artery pressure (PASP) (p = 0.896), end-systolic (p = 0.856), and end-diastolic diameters (p = 0.965). There were significant improvements in left ventricular dimensions and PASP after MitraClip. However, these changes were not maintained over time. The grade of MR significantly improved after the procedure (p = 0.001), with no difference between groups (p = 0.89). Conclusions: The MitraClip procedure showed positive results in terms of sustainable symptomatic relief, although this finding was not reflected in left ventricular dimensions. The technique is equally effective in FMR and DMR.
Background
The debate about the optimal approach for aortic valve replacement continues. We compared the hospital and long-term outcomes (survival, aortic valve reintervention, heart failure ...readmissions, and stroke) between transcatheter vs. surgical (TAVR vs. SAVR) aortic valve replacement. The study included 789 patients; 293 had isolated SAVR, and 496 had isolated TAVR. Patients with concomitant procedures were excluded. Propensity score matching identified 53 matched pairs.
Results
Patients who had TAVR were significantly older (
P
˂ 0.001) and had significantly higher EuroSCORE II (
P
˂ 0.001), NYHA class (
P
˂ 0.001), and more prevalence of diabetes mellitus (
P
˂ 0.001), hypertension (
P
˂ 0.001), chronic lung disease (
P
= 0.001), recent myocardial infarction (
P
= 0.002), and heart failure (
P
˂ 0.001), stroke (
P
= 0.02), atrial fibrillation (
P
= 0.004), and previous percutaneous coronary interventions (
P
˂ 0.001) than SAVR patients. In the matched cohort, atrial fibrillation occurred more frequently after SAVR (
P
= 0.01), and hospital stay was significantly longer in SAVR patients (
P
˂ 0.001). There were no differences in hospital mortality between groups (
P
˃ 0.99). Survival at 1, 3, and 5 years was 97%, 95%, and 94% for SAVR and 91%, 79%, and 58% for TAVR patients. Survival was lower in TAVR patients before matching (
P
˂ 0.001) and after matching (
P
= 0.045). Freedom from the composite endpoint of stroke, aortic valve reintervention, and heart failure readmission at 1, 3, and 5 years was 98.9%, 96%, and 94% for SAVR and 94%, 86%, and 75% for TAVR. The composite endpoint was significantly higher in the TAVR group than in SVR before matching (
P
˂ 0.001), while there was no difference after matching (
P
= 0.07). There was no significant difference in the change in ejection fraction between groups (
β
: −0.88 (95%
CI
: −2.20–0.43),
P
= 0.19), and the reduction of the aortic valve peak gradient was significantly higher with TAVR (
β
: −7.80 (95%
CI
: −10.70 to −4.91);
P
˂ 0.001).
Conclusions
TAVR could reduce postoperative atrial fibrillation and hospital stay. SAVR could have long-term survival benefits over TAVR with comparable long-term stroke, heart failure readmission, and aortic valve reinterventions between SAVR and TAVR.
ABSTRACT Introduction: Bleeding after transcatheter aortic valve replacement (TAVR) is associated with increased mortality. The predictive value of the HAS-BLED score in TAVR patients is still to be ...evaluated. We assessed the value of the HAS-BLED score to predict in-hospital bleeding and mortality after TAVR and the impact of diferent renal impairment definitions on the predictive value of the score system. Methods: We retrospectively included 574 patients who underwent TAVR at a single center. Study outcomes were 30-day mortality and the composite endpoint of major and life-threatening bleeding as defined by The Valve Academic Research Consortium-2. The predictive value of the HAS-BLED score was calculated and compared to a modified model. The performance of the score was compared using two definitions of renal impairment. Model discrimination was tested using C-statistic and the Net Reclassification Index. Results: Bleeding occurred in 78 patients (13.59%). HAS-BLED category 3 was a significant predictor of bleeding (OR: 1.99 1.18- 3.37, C-index: 0.56, P=0.01). C-index increased to 0.64 after adding body surface area and extracardiac arteriopathy to the model. The Net Reclassification Index showed an increase in the predic tive value of the model by 11.4% (P=0.002). The C-index increased to 0.61 using renal impairment definition based on creatinine clearance. Operative mortality was significantly associated with the HAS-BLED score (OR: 7.54 95% CI: 2.73- 20.82, C-index: 0.73, P<0.001). Conclusion: The HAS-BLED score could be a good predictor of in-hospital mortality after TAVR. Its predictive value for bleeding was poor but improved by adding procedure-specific factors and using creatinine clearance to define renal impairment.
Background
Reintervention after transcatheter edge to edge repair using MitraClip is still challenging. We aimed to report our experience in reinterventions after MitraClip procedures and describe ...the outcomes.
Methods
From 2012 to 2020, 167 patients had a transcatheter edge to edge repair; 10 of them needed reinterventions. At the time of the first MitraClip, the median EuroSCORE was 4.29 (2.62–7.52), and the ejection fraction was 30 (20–40)%.
Results
Emergency mitral valve replacement (MVR) was performed in two patients, elective MVR in three, cardiac transplantation in two, and repeat clipping in threepatients. The median time from MitraClip to the reintervention was 4.5 (2–13) months. One patient required extracorporeal membrane oxygenation support after elective MVR. Repeat clipping failed to control mitral regurgitation grade in all patients. Clip detachment was reported in five patients (50%). The median follow‐up after the reintervention was 19.5 (9–75) months, and mortality occurred in two patients who had repeat clipping (20%).
Conclusions
MVR after MitraClip is feasible with low morbidity and mortality. Repeat mitral valve clipping had a high failure rate. Mitral repair was not feasible in all patients in our series, and the use of MitraClip to delay surgical interventions may not be feasible if mitral repair is an option.
Background
The number of MtraClip procedures is increasing, and consequently, the number of patients with residual or recurrent mitral regurgitation (MR). We aimed to characterize patients who had ...residual versus recurrent MR after MitraClip and report the outcomes of different treatment strategies.
Methods
From 2012 to 2020, 167 patients had MitraClip. Out of them, 16 patients (9.5%) had residual mitral regurgitation (MR), and 27 patients (16.2%) had recurrent MR.
Results
The median age in patients with residual MR was 67.5 (59–73) years versus 69 (61–78) years in patients with recurrent MR (p = .87). The etiology of mitral valve disease was functional in 13 patients (81.3%) and 22 patients (84.6%) in residual versus recurrent MR patients (p > .99). Cardiac resynchronization therapy‐defibrillator implantation was higher in patients with residual MR (p = .02). Survival was 93.7% at 1 year, 76.4% at 3 years versus 92.5% at 1 year, and 84.5% at 3 years in residual versus recurrent MR (p = .69). Two patients in the residual MR group had re‐clip, and three had surgery, and in the recurrent MR group, one patient had re‐clip, and two patients had surgery (p = .23). Patients who had re‐clip were older (p = .09). Surgery was associated with 100% survival at 5 years, 63% after medical therapy and the worst survival was reported in re‐clip patients (p = .007).
Conclusion
The outcomes of patients with residual versus recurrent mitral regurgitation after MitraClip were comparable. Survival could be improved with surgery compared with medical therapy and re‐clip.
ABSTRACT Introduction: Repeat transcatheter mitral valve replacement (rTMVR) has emerged as a new option for the management of high-risk patients unsuitable for repeat surgical mitral valve ...replacement (rSMVR). The aim of this study was to compare hospital outcomes, survival, and reoperations after rTMVR versus surgical mitral valve replacement. Methods: We compared patients who underwent rTMVR (n=22) from 2017 to 2019 (Group 1) to patients who underwent rSMVR (n=98) with or without tricuspid valve surgery from 2009 to 2019 (Group 2). We excluded patients who underwent a concomitant transcatheter aortic valve replacement or other concomitant surgery. Results: Patients in Group 1 were significantly older (72.5 67-78 vs. 57 52-64 years, P<0.001). There was no diference in EuroSCORE II between groups (6.56 5.47-8.04 vs. 6.74 4.28-11.84, P=0.86). Implanted valve size was 26 (26-29) mm in Group 1 and 25 (25-27) mm in Group 2 (P=0.106). There was no diference in operative mortality between groups (P=0.46). However, intensive care unit (ICU) and hospital stays were shorter in Group 1 (P=0.03 and <0.001, respectively). NYHA class improved significantly in both groups at one year (P<0.001 for both groups). There was no group effect on survival (P=0.84) or cardiac readmission (P=0.26). However, reoperations were more frequent in Group 1 (P=0.01). Conclusion: Transcatheter mitral valve-in-valve could shorten ICU and hospital stay compared to rSMVR with a comparable mortality rate. rTMVR is a safe procedure; however, it has a higher risk of reoperation. rTMVR can be an option in selected high-risk patients.
Intraoral neural neoplasms though unusual may be clinically significant. The aim of this study was to categorize and evaluate oral neural tumors in a large oral pathology biopsy service. With IRB ...approval, a retrospective search of all neural neoplasms of the oral cavity in the archives of the University of Florida Oral Pathology Biopsy Service spanning from 1994 to 2015 was performed. Extraoral cases as well as cases with insufficient patient information were excluded. A total of 340 out of 164,578 submitted specimens in a 22 year period (0.2%) were included with a mean age of 43.3 years (range: 6–89), and 44% male and 56% female. The most commonly affected locations were: tongue (37.5%), palate (22%), lip (19%), and gingiva (14%). The microscopic diagnoses rendered, in descending order of frequency were: neurofibromas (NFs): 123 (36%), granular cell tumor (GCT): 108 (32%), schwannomas: 61 (17%), palisaded encapsulated neuromas: 39 (11%), benign neural lesion not otherwise specified: 8 (2%), and mucosal neuroma c/w multiple endocrine neoplasia type 2B (MEN 2B): 1 (< 0.5%). Six cases of NF reported a history of neurofibromatosis Type 1 (NF 1). Four cases showed multifocal lesions. Immunohistochemical staining was performed on equivocal cases (25% of the lesions) and all were confirmed by their S-100 positivity. Intraoral neural neoplasms, though uncommon should be in the differential diagnosis of oral soft tissue entities and specific consideration to syndromal linkage is paramount as this may impact patient management.
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