Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome.

Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis. The only approved treatment is the farnesyltransferase inhibitor lonafarnib, which improves vascular structure and function, extending average untreated lifespan of 14.5 years by 4.3 years (30%). With this longer lifespan, calcific aortic stenosis (AS) was identified as an emerging critical risk factor for cardiac death in older patients. Intervention to relieve critical AS has the potential for immediate improvement in healthspan and lifespan. However, HGPS patient-device size mismatch, pervasive peripheral arterial disease, skin and bone abnormalities, and lifelong failure to thrive present unique challenges to intervention. An international group of experts in HGPS, pediatric and adult cardiology, cardiac surgery, and pediatric critical care convened to identify strategies for successful treatment. Candidate procedures were evaluated by in-depth examination of 4 cases that typify HGPS clinical pathology. Modified transcatheter aortic valve replacement (TAVR) and left ventricular Apico-Aortic Conduit (AAC) placement were deemed high risk but viable options. Two cases received TAVR and 2 received AAC post-summit. Three were successful and 1 patient died perioperatively due to cardiovascular disease severity, highlighting the importance of intervention timing and comparative risk stratification. These breakthrough interventions for treating critical aortic stenosis in HGPS patients could rewrite the current clinical perspective on disease course by greatly improving late-stage quality of life and increasing lifespan. Expanding worldwide medical and surgical competency for this ultra-rare disease through expert information-sharing could have high impact on treatment success.

Panoramic on Epigenetics in Coronary Artery Disease and the Approach of Personalized Medicine.

Epigenetic modifications play a fundamental role in the progression of coronary artery disease (CAD). This panoramic review aims to provide an overview of the current understanding of the epigenetic mechanisms involved in CAD pathogenesis and highlights the potential implications for personalized medicine approaches. Epigenetics is the study of heritable changes that do not influence alterations in the DNA sequence of the genome. It has been shown that epigenetic processes, including DNA/histone methylation, acetylation, and phosphorylation, play an important role. Additionally, miRNAs, lncRNAs, and circRNAs are also involved in epigenetics, regulating gene expression patterns in response to various environmental factors and lifestyle choices. In the context of CAD, epigenetic alterations contribute to the dysregulation of genes involved in inflammation, oxidative stress, lipid metabolism, and vascular function. These epigenetic changes can occur during early developmental stages and persist throughout life, predisposing individuals to an increased risk of CAD. Furthermore, in recent years, the concept of personalized medicine has gained significant attention. Personalized medicine aims to tailor medical interventions based on an individual's unique genetic, epigenetic, environmental, and lifestyle factors. In the context of CAD, understanding the interplay between genetic variants and epigenetic modifications holds promise for the development of more precise diagnostic tools, risk stratification models, and targeted therapies. This review summarizes the current knowledge of epigenetic mechanisms in CAD and discusses the fundamental principles of personalized medicine.

Outcomes of Transcatheter Aortic Valve Replacement in Patients With Severely Reduced Left Ventricular Systolic Function in the Low Systolic Function and Transcatheter Aortic Valve Implantation (LOSTAVI) International Registry.

Transcatheter aortic valve replacement (TAVR) is an established therapy for severe, symptomatic aortic valve stenosis even in patients with impaired left ventricular systolic function. However, there is uncertainty on the clinical effectiveness of the currently available TAVR devices in patients with reduced left ventricular ejection fraction (LVEF). The LOSTAVI (Low Systolic function and Transcatheter Aortic Valve Implantation) registry is a retrospective observational study using baseline, procedural, discharge, and long-term follow-up details. A total of 3 groups of interest were distinguished: extremely reduced LVEF (<25%), severely reduced LVEF (25% to 30%), and reduced LVEF (31% to 35%). Unadjusted and adjusted analyses were carried out for in-hospital and follow-up outcomes. A total of 923 patients were included from 12 centers, with 146 patients (16%) with LVEF <25%, 425 (46%) with LVEF 25% to 30%, and 352 (38%) with LVEF 31% to 35%. Several baseline and procedural features were different across groups, including age, risk, functional class, and prevalence of bicuspid disease (all p <0.05). In-hospital mortality was similar in the 3 groups (7 [4.8%], 18 [4.2%], and 7 [2.0%], respectively, p = 0.661), but major adverse events were more common in those with extremely reduced and severely reduced LVEF (19 [13%], 53 [13%], and 25 [7.1%], respectively, p = 0.024). The 12-month follow-up confirmed the significant detrimental impact of reduced LVEF on both death (21 [14%], 49 [12%], and 25 [7.1%], respectively, p = 0.024) and major adverse events (37 [25%], 89 [21%], and 53 [15%], respectively, p = 0.016). The adjusted analysis confirmed the significant prognostic role of LVEF on both outcomes, whereas TAVR device type was not associated with death or major adverse events (all p >0.05). In conclusion, TAVR yields favorable early and 1-year results in patients with reduced LVEF, including those with extremely depressed systolic dysfunction. However, reduced LVEF still represents a major adverse prognostic factor for both short- and mid-term outcomes.

Hyperacute Sapien Aortic Valve thrombosis in a patient with Antiphospholipid Syndrome (APS).

In this case we briefly describe the case of an old woman presenting with acute exertional dyspnea due to hyperacute Sapien Valve thrombosis.

Transcatheter aortic valve implantation in patients with age ≤70 years: experience from two leading structural heart disease centers.

BACKGROUND: Transcatheter aortic valve implantation (TAVI) is emerging as an appealing management strategy for patients with severe aortic stenosis at intermediate, high or exceedingly high risk, but its risk-benefit profile in younger patients is less certain. We aimed to explore the outlook of patients aged 70 years or less and undergoing TAVI at 2 high-volume Italian institutions. METHODS: We retrospectively collected baseline, imaging, procedural and outcome features of patients with age ≤70 years in whom TAVI was attempted at participating centers between 2012 and 2021. Non-parametric tests and bootstrap resampling were used for inferential purposes. RESULTS: A total of 39 patients were included, out of >3000 screened with heart team involvement and >1500 receiving TAVI. Most common or relevant indications for TAVI reduced life expectancy (e.g. cardiogenic shock or severe left ventricular systolic dysfunction), chronic obstructive pulmonary disease, morbid obesity, active or recent extra-cardiac cancer, porcelain aorta, neurologic disability, cirrhosis, or prior surgical aortic valve replacement, as well as extreme cachexia, and Hutchinson-Gilford progeria. At least two contemporary high-risk features were present in most cases. Transapical access was used in 5 (12.8%) cases, and a sheathless approach in 15 (38.5%). A variety of devices were used, including both balloon- and self-expandable devices. Clinical outcomes were satisfactory, despite the high-risk profile, at both short- and mid-term, with no in-hospital death, and 5.1% (95% confidence interval 0-12.8%) mortality at a median follow-up of 15 months (minimum 1; maximum 85). Notably, no case of significant valve deterioration requiring reintervention occurred. CONCLUSIONS: In carefully selected patients with 70 years or less of age and prohibitive risk for surgery or reduced life expectancy, TAVI represents a safe option with a favorable mid-term survival and low rate of adverse events.

Surgical removal of a bullet in the heart through a trans-mitral approach: a case report.

Background: Retained cardiac missiles have been considered bullets, shrapnel, or pellets included in the heart or the pericardial sac. In asymptomatic patients with retained cardiac missiles, the role of surgery is still debated. Case summary: We describe the case of successful surgical treatment of a retained missile localized within the left ventricle in close proximity of the posterior mitral leaflet. The operation was performed through a transatrial approach, detaching the posterior mitral leaflet. The post-operative course was uneventful. The patient was discharged on the seventh post-operative day. At 30-day follow-up visit, the patient was in good conditions, with normal mitral valve function. Discussion: The management of retained cardiac missiles should be individualized. If a decision is made to operate, multiple imaging techniques including echocardiography and computed tomography scan are mandatory to precisely locate the bullet.

Single access transfemoral transcatheter aortic valve implantation for challenging iliofemoral route.

BACKGROUND: Optimal access for transcatheter aortic valve implantation is still a matter of debate. A tailored approach for patient anatomy is mandatory to reduce vascular complications and improve outcomes. AIMS: To optimize surgical technique in challenge scenario. MATERIAL AND METHODS: Here, we present a case of transfemoral transcatheter aortic valve replacement performed using single arterial access. RESULTS: A 92 years old patients affected by severe aortic stenosis showed no secondary arterial access. A single access approach was performed using the aortic valve calcification and the inferior margin of the second rib as lankdmarks for valve implantation. DISCUSSION AND CONCLUSIONS: Alternative options for TAVR are mandatory to deal with complex cases. The described technique is a simple and reproducible approach.

Transoesophageal echocardiography-guided 'primary' valve-in-valve technique in cardiogenic shock: a case report.

BACKGROUND: Transcatheter aortic valve implantation inside a previously implanted bioprosthesis is an alternative treatment for patients with degenerated surgical aortic bioprosthesis (AB) at high surgical risk. Pre-operative computed tomography (CT) scan provides essential information to the procedure planning, although in case of acute presentation it is not always feasible. CASE SUMMARY: A 32-year-old man with history of surgical treatment of aortic coarctation and Bio-Bentall procedure was transferred to our department in cardiogenic shock with a suspected diagnosis of acute myocarditis. A transthoracic echocardiogram (TTE) revealed a severely impaired biventricular function and AB degeneration causing severe stenosis. It was decided to undertake an urgent trans-apical valve-in-valve (ViV) procedure. Due to haemodynamic instability, a preoperative CT scan was not performed and transoesophageal echocardiography (TOE) was the main intraprocedural guiding imaging technique. Neither intraprocedural nor periprocedural complications occurred. Serial post-procedural TTE exams showed good functioning of the bioprosthesis and progressive improvement of left ventricular ejection fraction. Patient was discharged from the hospital 8 days after the intervention. DISCUSSION: A patient with cardiogenic shock due to severe degeneration of the AB was treated with urgent transapical ViV procedure. In this case, where urgent ViV technique was needed, TOE appeared to be a crucial alternative to CT scan and allowed us to perform a successful procedure.

Late Surgical Treatment for Transcatheter Aortic Valve Prosthesis Dysfunction.

Structural valve degeneration, valve thrombosis, or acute infective endocarditis may affect the postprocedural outcome of transcatheter aortic valve implanted (TAVI) prostheses. Data of patients who required late surgical explant of TAVI prostheses were obtained from 8 European centers. There were 13 patients who underwent surgical treatment for TAVI prosthesis failure after original admission due to prosthetic infective endocarditis in 6 patients, structural valve degeneration in 4, and valve thrombosis in 3. Hospital mortality was 15%, and survival at the 2-year follow-up was 71%. Abstract word count: 80.

Minimally invasive transatrial repair of posterior left ventricular aneurysm.

Left ventricular aneurysms (LVA) are a complication of myocardial infarction, that rarely involve the posterior wall; surgical repair of posterior LVA poses a technical challenge when associated with concomitant mitral regurgitation. We describe a minimally invasive treatment of ischemic MR and concomitant patch exclusion of posterior LVA through a right minithoracotomy. Using a transatrial approach, the aneurysm is closed with a "U" shaped dacron patch, whose base is anchored to the mitral annulus. Two patients were operated by this method with excellent results.

Hutchinson-Gilford Progeria Syndrome and Severe Aortic Stenosis: A New Hope for Treatment.

Hutchinson-Gilford progeria syndrome is an autosomal dominant, rare, fatal pediatric segmental premature aging disease. Cardiovascular and cerebrovascular diseases constitute the major cause of morbidity and mortality. Patients with the syndrome and severe aortic valve stenosis have been described in the literature, and for all of them a strategy of conservative management has been followed. We describe the first successful treatment of a 23-year-old Hutchinson-Gilford progeria syndrome patient with severe aortic stenosis who underwent transapical transcatheter aortic valve replacement.

Minimally invasive implantation of a Sapien 3 Ultra Valve in a degenerated tricuspid bioprosthesis.

Surgical management of patients affected by structural valve deterioration of bioprostheses in tricuspid valve position represents a challenge. Furthermore, transcatheter valve-in-valve implantation (TVIVI) recently emerged as an interesting option in high-risk surgical patients. When surgery is performed, replacement of the dysfunctional tricuspid bioprosthesis could be a difficult procedure due to the risk of heart rupture during the prosthesis removal. Herein we report the case of a 52-year-old female patient in which a transcatheter TVIVI was successfully performed under direct vision as a bailout strategy due to the impossibility of bioprosthesis removal.

Minimally invasive treatment of multiple valve disease: A modified approach through a right lateral minithoracotomy.

BACKGROUND AND AIM OF THE STUDY: Today there is little experience with minimally invasive treatment of multiple valve disease and no standard techniques have been provided yet. We report our early experience with combined aortic and mitral valve surgery with or without tricuspid surgery through a right lateral minithoracotomy (RmT), describing the technical aspects of our approach. METHODS: From April 2017 to April 2019 thirty patients with mitro-aortic valve disease or with triple valve pathology underwent surgery through a 3 to 4 cm lateral RmT into the third intercostal space. Cardiopulmonary bypass was established through femoral vessels cannulation. Surgery on the mitral valve (MV) was performed first and sutures put into the mitral annulus. Aortic valve replacement (AVR) was performed next. Then, the selected ring or prosthetic valve was implanted in a mitral position throughout previously placed sutures. Finally, if required, tricuspid valve surgery was performed. RESULTS: In combined with AVR, MV replacement was performed in 20 patients (66%), and MV repair in 10 patients (34%). Concomitant tricuspid annuloplasty was performed in five patients (17%). There was no conversion to full sternotomy. Postoperatively, one patient died. Postoperative echocardiography showed no perivalvular leakage in aortic or in the mitral position. No residual mitral regurgitation was observed in patients who underwent MV repair. CONCLUSIONS: Minimally invasive surgery of double and triple valve disease is feasible. Our approach through a lateral RmT allows optimal visualization of the aortic, mitral, and tricuspid valves, simplifies the surgical procedure and allows excellent results also in complex MV repair procedures.

Minimally invasive triple valve surgery: The Rome approach.

Although the benefits of minimally invasive cardiac surgery are well recognized, most surgeons have little experience in the treatment of triple valve disease through a minithoracotomy approach. In this video tutorial, we present a case of concomitant aortic valve replacement with mitral and tricuspid valve repair through a lateral minithoracotomy.

Unconventional location for a cardiac lipoma: The anterior papillary muscle.

Primary cardiac tumors are uncommon, and lipoma is the second most frequent benign type after myxoma. The treatment of choice is surgery, with the complete excision of the mass. Nevertheless, in the absence of symptoms and clinical signs the indication for surgery is less defined, and close follow up may be recommended. In the case we are going to report the patient was followed by periodical clinical and echographic examination, always reconsidering the possibility of treatment. .