Hellenic Journal of Cardiology最新文献

Objectives: Congenital heart diseases (CHDs) are complex genetic disorders, and their genetic basis is not yet fully understood. Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TFII) encodes a transcription factor which is expressed at high levels during mammalian development. Few studies have identified heterozygous and rare variants in the NR2F2 gene in individuals with CHD. This study aimed to evaluate the association between pathogenic genetic alterations in NR2F2 with CHD risk.

Methods: A case-control study was conducted on a group of 135 patients (83 boys and 52 girls) with various types of non-hereditary, isolated CHD who were undergoing open-heart surgery. Additionally, 95 matched healthy children without syndromic or isolated heart abnormalities were selected.

Results: Using Sanger sequencing, we identified 5 heterozygous single nucleotide variants in exons 2 and 3 of the NR2F2 gene. These variations were novel and not present in any genomic variation databases. Four of the variations were missense mutations (p.Pro159Arg, p.Ser329Phe, p.Qln338Pro, and p.Tyr348Ser) and one was a synonymous variant (p.G361 = ) in the coding region. Importantly, in silico results indicated that the missense variants had pathogenic effects on protein function. Additionally, the missense variants substantially altered the predicted structure of COUP-TFII.

Conclusion: The results we obtained not only validate the correlation between NR2F2 mutations and CHDs but also have significant potential for guiding new preventive and therapeutic strategies. This could contribute to the advancement of medical interventions in the fields of cardiology and genetics.

Objective: The impact of renal function on revascularization outcomes in patients with acute myocardial infarction and multivessel disease remains unclear. This study compared long-term outcomes of complete (CR) and incomplete revascularization (IR) in patients with estimated glomerular filtration rate (eGFR) ≥60 or <60 mL/min/1.73 m² METHODS: Using data from the Korea Acute Myocardial Infarction Registry-National Institute of Health, 5962 patients (mean age: 65.4 ± 12.1 years; 4389 men) were categorized by renal function into Group I (eGFR ≥60, n = 4689) and Group II (eGFR <60, n = 1273). Each group was divided into CR (IA, IIA) and IR (IB, IIB) subgroups. The primary end point was the incidence of major adverse cardiac events (MACEs), a composite of all-cause death, myocardial infarction, and repeat revascularization, assessed over a 3-year follow-up.

Results: MACEs were more frequent in Group II than Group I (41.5% vs. 19.4%, p < 0.001). In Group I, CR reduced MACEs compared with IR (16.7% vs. 22.6%, p < 0.001). However, no significant difference was found between CR and IR in Group II (p = 0.118). Key predictors of MACEs included advanced age, diabetes, prior myocardial infarction, ST-elevation myocardial infarction, and IR.

Conclusion: CR improved outcomes in patients with eGFR ≥60, whereas no difference was observed between CR and IR in those with eGFR <60. Therefore, IR may be a viable option for patients with reduced renal function.

Objective: This study aimed to investigate the association of the DANish CoMorbidity Index for Acute Myocardial Infarction (DANCAMI) score with 30-day unplanned readmission rates and causes in patients with acute coronary syndrome (ACS).

Methods: Using the US National Readmission Database, all index hospitalisations with a principal diagnosis of ACS between October 2015 and December 2019 were stratified by their DANCAMI score using International Classification of Diseases-10th edition codes. Thirty-day unplanned readmission rates and causes were analysed, including the assessment of factors associated with readmission. Multivariable regression analyses were reported as adjusted odds ratios (aOR) with 95% confidence intervals (95% CI).

Results: Of 2,066,328 ACS admissions, 173,304 (8.4%) had a DANCAMI score of 0, 602,640 (29.2%) had a DANCAMI score of 1-3, 327,046 (15.8%) had a DANCAMI score of 4-5, and 963,338 (46.6%) had a DANCAMI score ≥6. 189,240 (9.2%) had an unplanned readmission within 30 days. Patients with a higher DANCAMI score were more likely to be older and have an index presentation of non-ST-elevation ACS. A DANCAMI score ≥6 (aOR 1.30 95% CI 1.27-1.34), age (aOR 1.01 95% CI 1.01-1.01), female sex (aOR 1.09 95% CI 1.08-1.10), index ST-elevation ACS (aOR 1.03 95% CI 1.01-1.04), and atrial fibrillation (aOR 1.35 95% CI 1.33-1.37) were independently associated with readmission (all p < 0.001). Higher scores were associated with an increasing likelihood of readmission for non-cardiovascular causes.

Conclusion: Increased DANCAMI score was associated with higher readmissions in patients with ACS. The DANCAMI score could be a valuable tool to assess risk.

Objective: Surgical aortic valve replacement has been the mainstay of treatment against severe aortic insufficiency despite the high incidence of prosthesis-related complications and better long-term outcomes following aortic valve repair. Annuloplasty and leaflet reconstruction are the integral parts of the procedure. Safety and efficacy of HAART internal annuloplasty ring are hereby investigated through mid-term outcomes of a single referral center.

Methods: Forty-three consecutive patients with either trileaflet or bicuspid aortic insufficiency along with ascending aorta and/or aortic root enlargement were included. Annular stabilization via the internal ring implantation was attempted, whereas leaflet repair was performed whenever required.

Results: Maximum follow-up was 6.3 years, whereas the mean was 2.7 years. Mean age was 54.2 years. At least moderate aortic insufficiency was noted in 69.8% (30/43) of patients, whereas 93% (40/43) of them had an ascending aorta or aortic root over 45 mm. Overall mortality was 2.3% (1/43). No more than mild aortic insufficiency was detected early postoperatively. At the last follow-up, there were 2 cases of ring-related adverse events who were reoperated for aortic valve replacement (4.7%). Mid-term outcomes revealed no more than mild aortic insufficiency, while aortic diameter was less than 50 mm in the vast majority of the patients. New York Heart Association class was also significantly lower compared to preoperatively, although moderate aortic stenosis was present in 16% of our cohort.

Conclusion: Geometric ring annuloplasty is an easily reproducible valve-sparing approach. Midterm results, revealing 2.3% mortality and 95.3% freedom from reoperation, are promising, but long-term outcomes are yet to be discovered.

Background: Sacubitril/valsartan, an angiotensin receptor neprilysin inhibitor (ARNI), shows promising result in treating resistant hypertension (RH) but lacks comprehensive evaluation. We performed a systematic review to assess and compare the efficacy of ARNI in managing RH.

Methods: We conducted a systematic search on multiple databases such as Cochrane, ProQuest, PubMed, and Google Scholar. Studies comparing the effects of ARNI on blood pressure in adult RH patients were included in the review. Data extraction and synthesis followed PRISMA guidelines, and the risk of bias was assessed using Cochrane tools. The primary outcome is to determine the effect of ARNI on blood pressure in RH patients, and the secondary outcome was to assess the safety of ARNI in RH patients.

Results: Four studies involving 915 RH patients were included in the systematic review. The sacubitril/valsartan dose used ranged between 100 and 400 mg/day. All studies reported a statistically significant reduction in blood pressure, with 24-h blood pressure reduction ranging from 15.8/6.5 to 16.6/9.3 mmHg and office systolic blood pressure reduction ranging from 24.7 to 10.3 mmHg. Additionally, two studies reported improvements in cardiac remodeling and left ventricular function associated with sacubitril/valsartan. The most common adverse events were hypotension and elevated serum potassium levels, though these were minimal and did not require discontinuation of ARNI therapy.

Conclusion: Sacubitril/valsartan is a promising alternative to ARB or ACEi in managing RH, offering superior blood pressure reductions and potential benefits in reversing cardiac remodeling, while maintaining a favorable safety profile with minimal risk of serious adverse events.

Objective: The anatomic considerations of transcatheter aortic valve implantation (TAVI) have an important role for the procedure planning; however, sex-specific data are lacking.

Methods: All eligible cases undergoing evaluation for TAVI procedure in the period from November 2019 to July 2023 at the University Hospital of Split were included. Cardiac computed tomography was analyzed to derive the measures of left ventricular outflow tract (LVOT), aortic root, ascending aorta, and ilio-femoral arteries. A sex-based comparison was conducted using the descriptive statistics.

Results: There were 140 female (43.8%) and 180 male patients (56.2%). Female patients had smaller dimensions of aortic annulus (area 391.9 vs. 491.5 mm², p < 0.001), LVOT (area 373.3 vs. 481.8 mm², p < 0.001), and ascending aorta (maximal diameter 32.7 vs. 34.5 mm, p < 0.001), as well as ilio-femoral arteries bilaterally (p < 0.001). There was no significant difference in the proportion of ilio-femoral unfeasibility for transfemoral TAVI procedure, as measured by diameter of ilio-femoral arteries <5.0 mm (9.0% in males vs. 6.1% in females, p = 0.441) and <5.5 mm (24.7% in males vs. 16.7% in females, p = 0.156). Female patients were more likely to receive the smallest valve across different valve platforms (p < 0.001). There were sex-specific differences in the availability of conventional valve sizes across different platforms (p < 0.001). Female patients had significantly higher periprocedural mortality (7.9% vs. 1.7%, p = 0.030), whereas there were no differences in other clinical outcomes and no association of periprocedural mortality with anatomic measures.

Conclusion: Female patients showed smaller absolute dimensions of LVOT, aortic root, and ilio-femoral arteries than male patients. There were no differences in the prevalence of ilio-femoral unfeasibility for the transfemoral TAVI procedure; however, there were sex-specific differences in the availability of conventional valve sizes across different platforms. Female patients exhibited a higher periprocedural mortality, with no difference in other clinical outcomes.

Objective: Thoracic aortic aneurysm (TAA) represents an aortic pathology that is caused by the deranged integrity of the three layers of the aortic wall and is related to severe morbidity and mortality. Consequently, it is crucial to identify the biomarkers implicated in the pathogenesis and biology of TAA. The aim of the current computational study was to assess the differential gene expression profile of the gap junction proteins (GJPs) in patients with TAA to identify novel potential biomarkers for the diagnosis and treatment of this disease.

Methods: We implemented bioinformatics methodology to construct the gene network of the GJPs family, evaluate their expression in pathologic aortic tissue excised from patients with TAA, and compare it with healthy controls. We also investigated the related biological functions and miRNA families.

Results: We extracted raw data related to the transcriptomic profile of selected genes from a microarray dataset, incorporating 43 TAA and 43 healthy control samples. A total of 17 GJPs were evaluated. Eight GJPs (47%) were downregulated in TAA (GJA3, GJA9, GJA10, GJB1 GJC2, GJD2, GJD3, and GJD4). We also demonstrated the important correlations among the differentially expressed genes (DEGs). Four GJPs (GJA3, GJA9, GJC2, and GJD3) were associated with fair discrimination and calibration traits in predicting TAA presentation. Finally, we performed gene set enrichment analysis (GSEA) and identified the major biological functions and miRNA families (hsa-miR-5001-3p, hsa-miR-942-5p, hsa-miR-7113-3p, hsa-miR-6867-3p, and hsa-miR-4685-3p) associated with the DEGs.

Conclusion: These outcomes support the important role of certain gap junction proteins in the pathogenesis of TAA.