CHARGE syndrome and congenital heart diseases: systematic review of literature.

CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth aortic arch (PFAA). Demographic, clinical and outcome data were extracted and analyzed. Sixty-eight studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus (PDA) 26%, ventricular (VSD) 21%, atrial septal defects (ASD) 18%, tetralogy of Fallot 11%, aortic abnormalities 24%. PFAA has not been previously reported in CS. Cardiac surgery was performed in more than half of CS patients (150/242, 62%). In-hospital mortality rate was about 9.5% (n=86/900) in case series studies and 12% (n=5/43) in case reports, including cardiovascular (CV) and non-CV causes. CHDs and feeding disorders associated with CS may have a substantial impact on prognosis. CHDs were usually associated with CS and represent important causes of morbidity and mortality. PFAA, although rare, may also be present. The prognosis is highly dependent on the presence of cardiac and non-cardiac developmental abnormalities. Further studies are needed to better identify the main causes of the long-term outcome of CS patients.

Long-Term Results of Surgical Treatment for Popliteal Artery Entrapment Syndrome.

INTRODUCTION: Popliteal artery entrapment syndrome (PAES) is a rare disease of the lower limbs, mainly affecting young patients, due to extrinsic compression of the neurovascular bundle at the popliteal fossa. The aim of this study was to describe our experience during a median 15-year period. METHODS: Patients treated for PAES in our institution from 1979 to 2024 were included. Preoperative, intraoperative, and postoperative data were analyzed. RESULTS: A total of 47 patients with a total of 78 limbs were treated. Duplex ultrasound with active maneuvers was performed in all limbs (100%). Angiography was performed in almost all patients (97.4%), computed tomography angiography in 56 (71.8%), and magnetic resonance angiography in 22 (28.2%). Concerning surgical treatment, musculotendinous section was performed in 60 limbs (76.9%), and autologous venous bypass was achieved in 18 limbs (23.1%). The rates for freedom from target lesion revascularization-meaning that no significant stenosis or occlusion during follow-up required revascularization-and 15-year primary patency were 92.4% and 98%, respectively. CONCLUSION: Long-term results of surgical treatment for PAES seem to be very satisfying. Myotomy with or without arterial reconstruction using venous bypass can lead to good patency at 15 years of follow-up.

Isolated Intramural Hematoma of Superior Mesenteric Artery: Case Reports and a Review of Literature.

(1) Background: Spontaneous isolated intramural hematoma of the superior mesenteric artery (SIHSMA) is a rare entity often considered as a subset of spontaneous isolated dissection of the superior mesenteric artery (SIDSMA). It is characterized by a completely thrombosed false lumen with or without an ulcer-like projection with computed tomography (CT) imaging. The recent literature describes few reports with a relatively short-term follow-up. The natural course, prognosis, and treatment options for SIHSMA still lack consensus. We present two cases of acute abdominal pain in a young man due to IMH of the superior mesenteric artery with an extensive literature review. (2) Case report: A 46-year-old male patient was submitted to an urgent CTA for acute abdominal pain, showing the presence of an isolated dissection of the superior mesenteric artery, determining significant stenosis of the vessel with collateral vessel patency. The patient referred to a recent COVID-19 infection, whose course was paucisymptomatic. He was conservatively treated with antiplatelet therapy and corticosteroid treatments, and, after a few days, the symptomatology completely regressed; also, the 2-month-control CTA showed complete IMH regression and the absence of any signs of residual stenosis. The second patient was a 61-year-old male patient who was submitted to an urgent CTA for acute abdominal pain, showing the presence of an isolated dissection of the superior mesenteric artery, not determining significant vessel stenosis. He was conservatively treated with antiplatelet therapy and corticosteroid treatment, and after a few days, the symptomatology completely regressed and the radiological control showed complete dissection regression. (3) Conclusion: SISHSMA is a rare entity of vascular pathology, and conservative management represents the best medical strategy. We propose corticosteroid treatment as one of the most appropriate tools in the conservative treatment of SISHSMA.

Surgery for late type Ia/IIIb endoleak from a fabric tear and stent fracture of AFX2 stent graft.

Technical improvements and labeling updates of the AFX2 stent graft (Endologix Inc, Irvine, CA) seemed to have solved the known issues of its previous generation (AFX Strata). Although most endograft failures after endovascular abdominal aortic aneurysm repair will be managed endovascularly, a small subset of patients will still require secondary open conversion. Partial or complete endograft removal can be required, mainly dependent on the characteristics of the stent graft previously placed. We have report a case of secondary open conversion for late type Ia/IIIb endoleak due to stent fracture and fabric tear of the AFX2 stent graft 3 years after endovascular abdominal aortic aneurysm repair.

Online learning environments to stimulate in students the processes of mutual interaction between digital and analog artefacts to enhance student learning.

In the recent years, numerous papers have discussed the use of concept maps in education. In this paper, we use the Dynamic Concept Maps (DCMs) in online learning environments as tools able to stimulate in students the processes of mutual interaction and hybridization between digital artefacts (DCMs) and analog artefacts (books) so as to encourage the development of significant learning. This method, called "DynaMap Remediation Approach" (DMRA), encourages and stimulates learners to study topics in greater detail, and supports the development of their own learning. The advantages of this method are listed below:•DMRA is significantly effective in terms of reducing study time and improvement of learning outcomes.•DMRA valorises the active role of the learners during their process of knowledge construction and may have significant implications for educators who would like to use innovative and engaging online learning environments to enhance student learning.•DMRA is a simple and highly reproducible method.

[The role of myocardial scintigraphy in the assessment of coronary artery disease]. / Il ruolo della scintigrafia miocardica nella valutazione della cardiopatia ischemica.

Single photon emission computed tomography (SPECT) for the assessment of myocardial perfusion was introduced in the early 1970s, following pioneer studies of Gould et al. It has rapidly become one of the most used noninvasive technique for the assessment of myocardial ischemia. Thanks to the current technetium based tracers that allow electrocardiogram gated synchronization, it is possible to assess the regional ventricular systolic function and the evaluation of myocardial perfusion as well. In the last twenty years, beyond its diagnostic role, myocardial SPECT has become also a prognostic technique. Indeed, it has acquired a role for the short-term prediction of major coronary events in a large cohort with known or suspected coronary artery disease (CAD). The aim of this review is to give an update of the correct use and interpretation of myocardial SPECT in patients with known or suspected CAD and without left ventricular dysfunction.

RenalGuard System for the prevention of acute kidney injury in patients undergoing transcatheter aortic valve implantation.

AIMS: We aimed to assess whether the RenalGuard™ System is effective in preventing acute kidney injury (AKI) following transcatheter aortic valve implantation (TAVI). METHODS AND RESULTS: Forty-eight consecutive patients with chronic kidney disease (CKD) scheduled for TAVI were assigned to: 1) hydration with sodium bicarbonate solution (Control group), or 2) hydration with RenalGuard Therapy (RenalGuard group). Hypotension was defined as periprocedural mean blood pressure <55 mmHg. The primary endpoint was the occurrence of AKI (i.e., an increase of ≥0.3 mg/dL in the serum creatinine concentration at seven days). AKI occurred in 10/26 (38.5%) patients in the Control group and in 1/22 (4.5%) patients in the RenalGuard group (p=0.005, odds ratio [OR] 0.076, 95% confidence interval [CI]: 0.009-0.66). RenalGuard Therapy protected against AKI (OR 0.71, 95% CI: 0.07-0.775, p=0.026), whereas post-procedural hypotension (OR 3.88, 95% CI: 1.06-14.24, p=0.040), and contrast media volume (OR 3.65, 95% CI: 1.15-5.75, p=0.043) increased the risk of AKI. CONCLUSIONS: This non-randomised pilot study suggests that RenalGuard Therapy may be effective in preventing AKI in CKD patients undergoing TAVI.

Endothelial dysfunction in type 2 diabetic patients with normal coronary arteries: a digital reactive hyperemia study.

BACKGROUND: To assess endothelial function (EF) in type 2 diabetic patients with angiographically normal coronaries compared to diabetic patients with obstructive coronary artery disease (CAD) and to non-diabetic patients, with and without CAD. METHODS: One hundred eighty-three patients undergoing coronary angiography were divided in: group 1 with diabetes mellitus (DM) and CAD (n = 58); group 2 with DM without CAD (n = 58); group 3 with CAD without DM (n = 31) and group 4 without CAD and DM (n = 36). EF was assessed by reactive hyperemia index (RHI) using a fingertip peripheral arterial tonometry and compared to values obtained in 20 healthy volunteers. RESULTS: RHI was significantly lower in patients with DM compared to patients without DM (1.69 ± 0.38 vs 1.84 ± 0.44; p = 0.019). RHI was comparable among groups 1, 2 and 3, each value being significantly lower compared to group 4 (2 ± 0.44; p<0.001 vs group 1; p<0.005 vs group 2; p<0.002 vs group 3). At multivariate analysis DM and CAD were significant predictors of endothelial dysfunction (ED) (OR = 2.29; p = 0.012; OR = 2.76; p = 0.001, respectively), whereas diabetic patients (n = 116) CAD and glycated haemoglobin (HbA1c) were independent significant predictors of ED (OR = 3.05; p = 0.009; OR = 1.96; p = 0.004, respectively). Diabetic patients with ED (n = 67) had higher levels of HbA1c than diabetic patients with normal endothelial function (7.35 ± 0.97 vs 6.87 ± 0.90; p = 0.008) and RHI inversely correlated to HbA1c (p = 0.02; r = -0.210). CONCLUSIONS: Diabetic patients with and without CAD show significantly impaired peripheral vascular function compared to non-diabetic patients without CAD. ED in diabetic patients without CAD is comparable to that of patients with CAD but without DM. HbA1c is a weak independent predictor of ED.

Rest-redistribution 201-Thallium single photon emission computed tomography predicts myocardial infarction and cardiac death in patients with ischemic left ventricular dysfunction.

UNLABELLED: The prognostic role of rest-redistribution 201-Thallium imaging has not been extensively investigated in patients with left ventricular ischemic dysfunction. OBJECTIVE: The aim of this study was to evaluate the ability of rest-redistribution 201-Thallium single photon emission computed tomography to predict cardiac death and occurrence of acute myocardial infarction in patients with ischemic mild-to-moderate left ventricular dysfunction. METHODS: One-hundred and twenty-six patients with chronic coronary artery disease and mean left ventricular ejection fraction 39 +/- 11% were followed-up for 30 +/- 17 months after a rest-redistribution 201-Thallium imaging single photon emission computed tomography. Cardiac death and acute myocardial infarction were considered as major cardiac events. RESULTS: During the follow up, 11 (9%) cardiac deaths and 9 (7%) acute myocardial infarctions occurred. The only variable showing significant difference between patients with and without events was the number of severe irreversible defects (1.7 +/- 1.9 versus 0.9 +/- 1.2, respectively; P = 0.02). By Kaplan-Meier analysis, the presence of three or less, or more than three severe defects was selected as the best cutoff to identify patients with longer event-free survival from cardiac death or acute myocardial infarction (log rank 19.84; P < 0.0001). When only cardiac death was considered as clinical event, the presence of at least two severe defects best separated patients who died from those who survived (log rank 8.68; P = 0.0032). CONCLUSION: Rest-redistribution 201-Thallium single photon emission computed tomography provides prognostic information in coronary patients with mild-to-moderate left ventricular dysfunction. The number of severe irreversible defects per patient is a powerful predictor of prognosis.

Effects of AT1 receptor antagonism with candesartan on endothelial function in patients with hypertension and coronary artery disease.

Endothelial dysfunction is a major determinant of atherosclerosis and a negative prognostic factor in patients with coronary artery disease and hypertension. Recovery of endothelial dysfunction has been associated with improved prognosis in these patients. The aim of the present study was to verify whether antagonism of angiotensin II AT1 receptors with an angiotensin receptor blocker, candesartan, improved endothelial function in patients with hypertension, stable coronary artery disease, and endothelial dysfunction. We studied 26 patients who were receiving beta-blockers with optimal blood pressure control, in a randomized, double blind study. Patients were randomized to placebo (n=13) or to candesartan 16 mg/d (n=13) for 2 months. Endothelial function was assessed by ultrasound using hyperemic flow-mediated dilation of the brachial artery. Mean arterial blood pressure was unchanged in both groups (from 93.3 +/- 9.2 to 93.2 +/- 17.3 mm Hg in the candesartan group and from 101.3 +/- 14.2 to 102.3 +/- 13.9 mm Hg in the placebo group; both P=ns). Maximal blood flow was similar between placebo and candesartan groups at baseline and at the end of the study, whereas flow-mediated dilation significantly increased in the candesartan group (from 5.27% +/- 1.69% to 7.15% +/- 2.67%; P=0.01) but remained unchanged in the placebo group (from 4.49% +/- 1.97% to 5.88% +/- 2.30%; P=ns). AT1 receptor antagonism with candesartan, in addition to b-blocker therapy, improves endothelial function in high-risk hypertensive patients.