Transcatheter Pulmonary Valve Implantation in Repaired Tetralogy of Fallot and Anomalous Left Coronary Artery Origin.

We describe a rare and extremely challenging case of transcatheter pulmonary valve implantation in repaired tetralogy of Fallot and anomalous origin of the left main coronary artery from the right coronary sinus. Procedural planning based on advanced multimodality imaging and 3-dimensional technology proved to be the key to procedural success.

Right disc thrombosis of the new Gore Cardioform ASD Occluder.

BACKGROUND: The GCA is a well performing device in terms of efficacy despite complex anatomies (aortic rim <5 mm and ASD diameter >17 mm) with a good safety profile. AIMS: To evaluate atrial septal defect (ASD) features impacting on right disc device thrombosis in patients who underwent Gore Cardioform ASD Occluder (GCA) implantation. METHODS: A total of 44 consecutive patients undergoing percutaneous ASD with GCA device from January 2020 to September 2022 at our tertiary care Center were evaluated. The minimum follow-up was 6 months. RESULTS: The patients were stratified in two groups according to a cut-off value of ASD diameter equal to 20 mm at sizing balloon, derived from ROC analysis (AUC = 0.894; p = 0.024). Baseline characteristics were comparable between groups in terms of age, sex, weight, height, and interatrial septum dimensions. Patients with ASD > 20 mm (n = 9) had a higher ASD/device dimension ratio, both at echocardiography (p = 0.009) and at sizing balloon (p = 0.001), longer fluoroscopic time (p = 0.022), and higher incidence of device thrombosis (0.006). Right disc thrombosis was observed in three patients of the ASD > 20 mm group, always in the inferior portion of the right disc. On univariate analysis, ASD diameter at sizing balloon (OR 1.360; p = 0.036) was the only positive predictor of device thrombosis. CONCLUSIONS: Right disc thrombosis of the GCA device may be under-recognized at follow-up, hence deserving clinical attention, especially in those patients with larger ASD diameters.

Angiography-derived physiological assessment after percutaneous coronary intervention of chronic total occlusions.

Scant data exploring potential suboptimal physiological results after angiographic successful percutaneous coronary intervention (PCI) of chronic total occlusion (CTO) are available. Sixty cases of successful CTO-PCI were selected for this retrospective analysis. Post-CTO-PCI angiography-based fractional flow reserve was computed using the Murray-based fractional flow reserve (µFR) software. Vessel-specific µFR, residual trans-stent gradient (TSG) and corrected TSGstent were calculated. In physiological suboptimal results (µFR < 0.90), the virtual pullback pressure gradient (PPG) curves were analyzed to localize the main pressure drop-down and characterize the patterns of residual disease. The virtual pullback pressure gradient index (vPPGi) was then calculated to objectively characterize the predominant pattern of residual disease (diffuse vs focal). The physiological result was suboptimal in 28 cases (46.7%). The main pressure drop was localised proximal to the stent in 2 (7.1%), distal in 17 (60.7%) and intra-stent in 9 cases (32.2%). Intra-stent residual disease was diffuse in 7 cases and mixed in 2. Distal residual disease was characterised by a pure focal pattern in 12 cases, diffuse in 2 and mixed in 3. In the predominant diffuse phenotype (vPPGi < 0.65), we found a higher rate of TSG ≥ 0.04 (61.5% vs 20.0%, p = 0.025) and TSGstent ≥ 0.009 (46.2% vs 20.0%, p = 0.017) while in the dominant focal phenotype poor-quality distal vessel was constantly present. In our cohort, post-CTO-PCI suboptimal physiological result was frequent (46.7%). Predominant focal phenotype was constantly associated with poor-quality distal vessel, while in the predominant diffuse phenotype, the rate of TSG ≥ 0.04 and TSGstent ≥ 0.009 were significantly higher.

In-vitro validation of coronary physiology assessment with 5 French guiding catheters.

BACKGROUND: The trans-radial approach for cardiac catheterization led to an increasing adoption of 5 French (F) catheters. We aim to evaluate reliability and reproducibility of coronary physiology assessment performed with 5F guiding catheter (GC). METHODS: Physiological measurements were performed in a coronary flow simulator, which provides two pulsatile flows, the baseline and hyperaemic flows. Two screws, positioned proximally and distally to the distal sensor of a pressure-temperature guidewire, were used to determine various combinations of stenoses and distal obstructions, simulating different pathophysiological conditions. For each setting, 5 measurements of fractional flow reserve (FFR), coronary flow reserve (CFR) and index of microvascular resistance (IMR) were performed with 6F and 5F GCs. RESULTS: A total amount of 190 measurements were performed, 95 with 6F GC and 95 with 5F GC. Minimal differences between 6F and 5F GCs were detected for FFR [0.91 (IQR: 0.87-0.94) and 0.87 (IQR: 0.82-0.92) respectively, p < 0.001] and IMR (16.5 ± 8.8 and 15.4 ± 8.3 respectively, p = 0.001). Mean CFR was comparable between 6F and 5F GCs (3.6 ± 1.1 and 3.5 ± 0.7 respectively, p = 0.38). Misclassification rates were 1.0 %, 1.0 % and 0 % for FFR, CFR and IMR, respectively. According to Passing-Bablok analysis, an excellent agreement between 6F and 5F GCs was demonstrated for FFR and IMR, and a modest agreement for CFR. All measurements with 5F GC showed high reproducibility. CONCLUSIONS: In our in-vitro model, a complete physiological assessment including FFR, CFR and IMR resulted substantially comparable between 6F and 5F GCs. Further in-vivo analysis is required to support these findings.

Left atrial strain in acute heart failure: clinical and prognostic insights.

AIMS: In acute heart failure (AHF), the consequences of impaired left atrial (LA) mechanics are not well understood. We aimed to define the clinical trajectory of LA mechanics by left atrial strain (LAS) analysis. METHODS AND RESULTS: Eighty-five consecutive AHF patients with reduced, mildly reduced, and preserved left ventricular ejection fraction (LVEF) were enrolled in the LAS-AHF trial and underwent LA mechanics analysis by speckle tracking echocardiography. Seventy-seven patients were followed-up (FU) at 6 and 12 months. At hospital admission, discharge, 6 and 12 months post-discharge, LA reservoir function (LAS), LA pump strain, LAVi, LA stiffness, indicators of right ventricular (RV) and left ventricular (LV) function, congestion indexes (B lines, inferior vena cava, X-ray congestion score index), and biomarkers (NT-pro-BNP) were measured. The primary outcome was time to first event of re-hospitalization, worsening HF, or cardiovascular death. From admission to discharge, RV function significantly improved after decongestion, whereas no significant differences were observed in LA dynamics and LV function. In sinus rhythm patients with mild or no mitral regurgitation, decongestion was associated with a significant improvement of LAS and LA pump strain rate during hospitalization. At 12 months, 24 CV events occurred and lack of LAS improvement at 12 months FU emerged as the most powerful predictor followed by NT-pro-BNP. Kaplan-Meier curves showed a better survival for LAS >16%, improvement of LAS > 5%, and an LAS/LAVi ratio >0.25%/mL/m2 compared with lower cut-off values [log-rank: heart rate (HR) 3.5, 95% confidence interval (CI) 1.8-7.3, P = 0.004; log-rank: HR 3.6, 95% CI 2-7.9, P < 0.01; log-rank: HR 3.27, 95% CI 1.4-7.7, P = 0.007]. CONCLUSION: In AHF of any LVEF, LA dynamics is highly predictive of re-hospitalization and cardiovascular outcome and allows to ease risk-stratification, potentially becoming an early reference target for improving long-term outcome.

Prevalence of Collateral Typology in Coronary Chronic Total Occlusion and Its Impact on Percutaneous Intervention Performance.

The presence of collateral channels providing distal blood supply is a distinctive characteristic of chronic total occlusion (CTO) lesions. However, data about the distinct baseline and procedural characteristics of each collateral subset are scarce. Accordingly, we sought to explore the procedural aspects specific for each collateral typology (ipsilateral collaterals [ICs], contralateral collaterals [CCs] or mixed) in CTO-percutaneous coronary intervention (PCI). A retrospective analysis of our CTO-PCI registry was performed to investigate the prevalence, procedural characteristics, and outcomes specific for each CTO-PCI subset, defined according to the inter-arterial connection anatomy. A total of 209 cases were included. Of the included cases, 45 (22%) and 92 (44%) patients displayed solely IC or CC, respectively, whereas in 72 (34%) both IC and CC were present (mixed). The procedural success rate was high (91.1%) and comparable among the different groups, despite greater lesion complexity in the CC group. The most frequent target vessel was the left circumflex in the IC group (51% of cases) and the right coronary artery in the CC (63%) and mixed (57%) groups. Among the IC cases, 42% showed a poor collateral connection function (2% and 10% for the CC and mixed group, respectively), and 46% showed a suboptimal collateral recipient artery filling (21% and 20% for the CC and mixed group, respectively). Most of the IC cases were performed using a single access (96%). In conclusion, the success and complication rates were comparable among the collateral typology groups, irrespective of the differences in the baseline and procedural characteristics. Phenotyping CTO as hereby proposed might be helpful for targeted procedural considerations.

Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.

Pycnodysostosis is an ultra-rare osteosclerotic skeletal disorder characterized by short stature, susceptibly to fractures, acroosteolysis of the distal phalanges, and craniofacial features (frontal bossing, prominent nose, obtuse mandibular angle, micrognathia). Dental abnormalities (delayed eruption of teeth, hypodontia, malocclusion, dental crowding, persistence of deciduous teeth, enamel hypoplasia, and increased caries) are also frequent; due to bone metabolism alteration, the patients have an increased risk for jaw osteomyelitis, especially after tooth extraction or mandible fracture. Other complications are obstructive sleep apnea, endocrine alterations and cytopenia. Pycnodysostosis is caused by biallelic loss of function variants in CTSK gene, coding the lysosomal protease cathepsin K. CTSK is involved in the degradation of bone matrix proteins, such as type I and type II collagen. In pycnodysostosis, this degradation is decreased, leading to increased bone density and bone fragility with pathological fractures and poor healing. We present a clinical report of a female adult patient with typical pycnodysostosis phenotype. At the age of 52 years, she had a pathological spontaneous fracture of the right mandible complicated by osteonecrosis, treated with load bearing osteosynthesis. The direct sequencing of CTSK gene revealed the presence of the pathogenic homozygous variant c.746T>A, (p.Ile249Asn), that confirmed the diagnosis of pycnodysostosis. We also review the literature case series published to date, that suggest to always consider the diagnosis of pycnodysostosis in case of osteosclerosis, even in the absence of brachydactyly or short stature. This report details the natural history of the disease in this patient, from childhood to adulthood, and highlights the importance of a quality of life assessment. In addition, we describe a case of mandibular osteonecrosis and spontaneous fracture in pycnodysostosis, drawing attention on the maxillofacial complications in these patients and on the importance of a personalized follow-up.

Minimalistic Hybrid Approach for the Percutaneous Treatment of Coronary Chronic Total Occlusions: Midterm Follow-Up of an International Multicenter Cohort.

The minimalistic hybrid approach (MHA) is a recently proposed algorithm to perform chronic total occlusion (CTO) percutaneous coronary intervention (PCI), reducing the overall invasiveness of the procedure without impacting the acute results. However, data on midterm results are lacking. This study aimed to evaluate the midterm clinical outcomes of a multicenter international cohort of CTO PCI treated according to the MHA. Data from a consecutive series of patients with a CTO who underwent PCI according to the MHA between February 2019 and March 2022 were prospectively collected in 3 European centers and retrospectively analyzed. The main outcome was the first occurrence of a major adverse cardiac event (MACE), defined as a composite outcome of all-cause death, any myocardial infarction, and target vessel revascularization, at the last follow-up available. A total of 212 patients were included. The majority of the patients were symptomatic for angina (Canadian Cardiovascular Society class 2 or 3: 63.7%) at the time of the index procedure. The mean Japanese-CTO and CASTLE scores were 2.1 ± 1.2 and 2.0 ± 1.3, respectively. Technical success (CTO open with optimal flow) was achieved in 198 patients (93.9%) and procedural success (technical success without in-hospital MACEs) in 195 (91.9%). At the last follow-up available (median 677 days), the cumulative incidence rate of MACEs was 11.5%; in particular, all-cause death was 7.4%, any myocardial infarction was 4.3%, and unplanned target vessel revascularization was 6.5%. In conclusion, the midterm results of the MHA seem to be in line with contemporary results of other CTO PCI algorithms, thus potentially validating the MHA as a valuable alternative, provided that interventionalists are already expert CTO operators and accustomed to the definitions and peculiarities of MHA.

Impact of extra-mitral valve cardiac involvement in patients with primary mitral regurgitation undergoing transcatheter edge-to-edge repair.

BACKGROUND: In the context of primary mitral regurgitation (PMR), the selection of patients for transcatheter edge-to-edge repair (TEER) does not include a systematic assessment of PMR-associated cardiac remodelling. AIMS: We aimed to investigate the epidemiology and prognostic significance of different phenotypes of extra-mitral valve (MV) cardiac involvement in a large series of patients with PMR referred for TEER. METHODS: The study included 654 patients from the multicentre Italian GIOTTO registry, stratified into groups according to extra-mitral valve (MV) cardiac involvement. The primary endpoint was all-cause death at 2-year follow-up. RESULTS: Patients with no cardiac involvement (NI; n=58), left heart involvement (LHI; n=343) and right heart involvement (RHI; n=253) were analysed. Acute technical success was achieved in 98% of patients. Kaplan-Meier curve analysis revealed significantly worse survival in patients with LHI and RHI (p=0.041). On multivariate Cox regression analysis, extra-MV cardiac involvement, haemoglobin level and technical success were independent predictors of the primary endpoint occurrence. CONCLUSIONS: Grading cardiac involvement may help refine risk stratification, since at least 1 group of extra-MV cardiac involvement represents in itself a negative predictor of midterm outcome.

Left atrial remodeling in hypertrophic cardiomyopathy and Fabry disease: A CMR-based head-to-head comparison and outcome analysis.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) and Fabry disease cardiomyopathy (FD) are phenocopies, as they show left ventricular hypertrophy (LVH). The left atrium (LA) is emerging as a potential marker of disease severity in both cardiomyopathies. The present study compares HCM and FD cardiomyopathy with similar degree of LVH, exploring LA morpho-functional parameters and the correlates of clinical outcome. METHODS: We performed a comprehensive CMR-based comparison between 30 HCM and 30 FD patients matched on age, sex, BSA, LV mass and major cardiovascular risk factors affecting LA remodeling (arterial hypertension and diabetes). 30 healthy controls were also included. CMR feature tracking (CMR-FT) analysis, T1 mapping and conventional parameters were evaluated. Patients also underwent transthoracic echocardiography for LV diastolic function assessment. Clinical events at follow-up were collected (atrial and ventricular events, bradyarrhythmia, heart failure (HF) hospitalization and death). RESULTS: HCM patients showed greater LA remodeling compared to FD patients, namely higher LA end-systolic volume index (LAVi max), lower LA-ejection fraction (LA-EF) and worse reservoir (εs) and booster function (εa) (all p < 0.05). Accordingly, these parameters have demonstrated good potential for distinguishing between FD and HCM (AUC 0.68-0.73, all p < 0.05), with LAVi max being an independent predictor for HCM diagnosis (OR 1.07, 95%CI 1.011-1.132, p 0.02). Moreover, in HCM patients a significant association between εs and HF occurrence was observed at 2-year follow-up (OR 0.85, 95%CI 0.72-0.99, p 0.04). CONCLUSIONS: In HCM, LA remodeling is greater than in FD cardiomyopathy with similar LVH, and reservoir strain is associated with HF at follow-up.

Alternative (Transulnar or Distal Radial) Arterial Access for Chronic Total Occlusion Percutaneous Coronary Intervention (Subanalysis from the Minimalistic Hybrid Approach Algorithm Registry).

The transradial approach (TRA) has become the primary choice for percutaneous coronary intervention (PCI); however, it may not be always feasible because of clinical and/or technical challenges. Alternative forearm accesses, such as transulnar approach (TUA) and distal radial approach (dTRA) may allow maintaining a wrist approach for the procedure, avoiding the femoral artery. This issue is particularly relevant in patients who underwent multiple revascularizations, such as those with chronic total occlusion (CTO) lesions. This study aimed to evaluate whether the use of TUA and/or dTRA is comparable with TRA in CTO PCI using a minimalistic hybrid approach algorithm, which limits the number of accesses used to minimize vascular access complications. Patients with CTO PCI treated solely through a fully alternative approach (TUA and/or dTRA) were compared with those treated solely through a standard TRA approach. The primary efficacy end point was procedural success, whereas the primary safety end point was the composite of major adverse cardiac and cerebral events and vascular complications. Of 201 CTO PCIs attempted, 154 procedures were considered for analysis (standard, n = 104, alternative, n = 50). Alternative and standard groups demonstrated comparable rates of both procedural success (92% vs 94.2%, p = 0.70) and primary safety end point (4.8% vs 6.0%, p = 0.70). Of interest, 7 French guiding catheters were more frequently used in the alternative group (44% vs 26%, p = 0.028). In conclusion, CTO PCI after minimalistic hybrid approach by way of alternative forearm vascular accesses (dTRA and/or TUA) is feasible and safe to perform, compared with CTO PCI by way of standard TRA.

Percutaneous treatment of left circumflex coronary artery injury related to mitral valve surgery: Case series and systematic review of the literature.

Left circumflex coronary artery (LCx) injury related to mitral valve surgery is a rare complication. The best treatment option is not defined, and percutaneous coronary intervention (PCI) may represent an effective treatment to avoid prolonged myocardial ischemia. To evaluate feasibility and efficacy of PCI treatment, all records of LCx injury related to mitral valve surgery and treated with PCI were included after a systematic PubMed searching. Moreover, we retrospectively analyzed our single-center PCI database and patients fulfilling the inclusion criteria were included. Patients undergoing transcatheter mitral valve intervention, non-mitral valve surgery, conservatively or surgically treated after LCx injury were excluded. Data about patient characteristics, procedural details, PCI success, and in-hospital mortality were collected. Fifty-six patients were included, 58.9% were male (n = 33) and the median age was 60.5 years (IQR = 21.75). The majority had left dominant or codominant coronary system (62.2%, n = 28 and 15.6%, n = 7, respectively). Clinical manifestations ranged from hemodynamic stability (21.1%, n = 8) to hemodynamic instability (42.1%, n = 16) and cardiac arrest (18.4%, n = 7). On ECG, 23.5% of patients (n = 12) presented ST-segment depression, 58.8% (n = 30) ST-segment elevation, 7.8% (n = 4) atrioventricular block, and 29.4% (n = 15) ventricular arrhythmias. Left ventricle dysfunction was present in 52.3% (n = 22) of patients and wall motion abnormalities in 71.4% (n = 30). PCI success rate was 82.1% (n = 46) and in-hospital mortality 4.5% (n = 2). LCx injury related to mitral surgery is a rare complication characterized by an increased risk of mortality. PCI seems a feasible treatment option, still burdened by suboptimal results, probably related to the technical challenges posed by the surgical failure.

Management of failed stenting of the unprotected left main coronary artery.

Percutaneous coronary intervention (PCI) is increasingly accepted as treatment for unprotected left main coronary artery (ULMCA) disease especially in those patients who are unsuitable for cardiac surgery. Treatment of any stent failure is associated with increased complexity and worse clinical outcomes when compared with de novo lesion revascularization. Intracoronary imaging has provided new insight into mechanisms of stent failure and treatment options have developed considerably over the last decade. There is paucity of evidence on the management strategy for stent failure in the specific setting of ULMCA. Treating any left main with PCI requires careful consideration and consequently treatment of failed stents in ULMCA is complex and provides unique challenges. Consequently, we provide an overview of ULMCA stent failure, proposing a tailored algorithm to guide best management and decision in daily clinical practice, with a special focus on intracoronary imaging characterization of causal mechanisms and specific technical and procedural considerations.

Revascularization and Medical Therapy for Chronic Coronary Syndromes: Lessons Learnt from Recent Trials, a Literature Review.

Stable coronary artery disease (CAD) has recently been replaced by a new entity described as chronic coronary syndrome (CCS). This new entity has been developed based on a better understanding of the pathogenesis, the clinical characteristics, and the morbi-mortality associated to this condition as part of the dynamic spectrum of CAD. This has significant implications in the clinical management of CCS patients, that ranges from lifestyle adaptation, medical therapy targeting all the elements contributing to CAD progression (i.e., platelet aggregation, coagulation, dyslipidaemia, and systemic inflammation), to invasive strategies (i.e., revascularization). CCS is the most frequent presentation of coronary artery disease which is the first cardiovascular disease worldwide. Medical therapy is the first line therapy for these patients; however, revascularization and especially percutaneous coronary intervention remains beneficial for some of them. European and American guidelines on myocardial revascularization were released in 2018 and 2021, respectively. These guidelines provide different scenarios to help physicians choose the optimal therapy for CCS patients. Recently, several trials focusing on CCS patients have been published. We sought to synthetize the place of revascularization in CCS patients according to the latest guidelines, the lessons learnt from recent trials on revascularization and medical therapy, and future perspectives.

Rock around DYRK1A: Ethnic diversity, clinical challenges.

DYRK1A-related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome. Here we report four new patients of different ethnicity, broadening the clinical phenotype of the condition and highlighting how ethnic influences in the facial appearance could make it less recognizable.

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. The main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms and immune deficiency. In 85-90% of cases, the 22q11.2 DGS is caused by a heterozygous ~3-Mb deletion, including the TBX1 gene, considered one of the major genes responsible for heart defects. Individuals with atypical deletions with at least one breakpoint outside low copy repeats have been reported. Our patient is a child presenting tetralogy of Fallot (TOF) with an atypical 22q11.2 deletion proximal to the critical DiGeorge region. The rearrangement was inherited from the healthy mother and spanned ~642-970 kb, encompassing DGCR6 and PRODH, two novel possible candidate genes for conotruncal heart defects.