The outcome of genetic and non-genetic pediatric cardiomyopathies.

BACKGROUND: Pediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective single-center review of cardiomyopathy patients from January 2011 to May 2020. Results of the genetic study, as well as the outcome, were reported. Patients were divided according to the type of CMP, age of presentation, and EF at presentation. Univariate and multivariate analysis and ROC and survival curves were done. RESULTS: We reported 229 patients under 14 years of age with a diagnosis of cardiomyopathy, most commonly DCM (160 patients (70%)) followed by HCM (26.2%). 52% presented at 6 months of age or less and 119 (52%) required ICU admission at presentation. The genetic and or metabolic disorder was confirmed in 21.4% of patients, most commonly VLCAD defect (16, 7%) and ELAC2 gene defect (10, 4.4%). During the disease course, 88 patients (38.4%) died (48 with DCM, 39 with HCM, and 1 with RCM). An EF of 20% or less at presentation and presentation at 6 months of age or less carries a risk for mortality in patients with DCM and HCM, respectively (RR 3.88 and 2.06 and OR of 11.09 and 4.35, respectively). Death was more common among HCM patients especially patients with positive genetic abnormality compared with patients with DCM. CONCLUSIONS: The mortality for CMP in children reaches up to 40%, (30% in DCM and 65% in HCM patients). Mortality was higher in those with HCM, DCM with EF of 20% or less, and HCM presented at 6 months of age or less. Whole-exome and/or whole-genome sequencing is advised for all patients of CMP and at-risk family members.

Acute thrombotic occlusion of a brachiocephalic branch graft and pseudoaneurysm formation after debranching surgery for a "non-A non-B" aortic dissection.

Non-A non-B aortic dissection is a pathology with potentially life-threatening consequences, and aortic debranching followed by thoracic endovascular aortic repair is one of the possible treatment options. Branch graft occlusion is an infrequent complication and no definite guidelines exist about postoperative antithrombotic therapy nor preoperative evaluation of individual anatomical characteristics-in particular regarding cerebral circulation-in such patients. We present the case of a 54-year-old man undergoing an aortic debranching procedure for a thoracoabdominal aortic dissection originating in the aortic arch, complicated by thrombotic occlusion of the brachiocephalic branch of the prosthesis and pseudoaneurysm of the ascending aorta, with our management and considerations.

Postpartum aortic dissection. A case report and review of literature.

INTRODUCTION: Aortic dissection is a rare cardiovascular complication in pregnancy. Most of the cases occur during the third trimester of pregnancy, whilst 33% of cases are reported during the postpartum period. PRESENTATION OF CASE: We report the case of a multiparous 35-year-old patient with gestational hypertension treated for a type A aortic dissection on the second postpartum day. A review of literature on non-syndromic sporadic aortic dissection during the postpartum period is presented. DISCUSSION: Aortic complications in pregnancy have been described in genetic syndromes or congenital aortic malformations but may also be non -syndromic and occur in the absence of any other risk factor. Pregnancy carries a 25-fold increase in relative risk for dissection. A review of the 16 cases published in literature from 1995 to December 2016 of non-syndromic, sporadic aortic dissections in pregnancy showed that the event may occur more frequently in the first week post-partum, be symptomatic for thoracic pain or dyspnoea. Type A aortic dissection accounts to 75% of cases. Mortality, despite surgical treatment, has been reported in 4 cases. CONCLUSIONS: Even though rarely reported, given the increasing incidence and the high mortality of aortic dissection in pregnancy, along with the potential challenge for two lives, clinician must consider aortic dissection in post-partum while dealing with differential diagnosis in post-partum patients in the emergency setting.

A Typical Immune T/B Subset Profile Characterizes Bicuspid Aortic Valve: In an Old Status?

Bicuspid valve disease is associated with the development of thoracic aortic aneurysm. The molecular mechanisms underlying this association still need to be clarified. Here, we evaluated the circulating levels of T and B lymphocyte subsets associated with the development of vascular diseases in patients with bicuspid aortic valve or tricuspid aortic valve with and without thoracic aortic aneurysm. We unveiled that the circulating levels of the MAIT, CD4+IL-17A+, and NKT T cell subsets were significantly reduced in bicuspid valve disease cases, when compared to tricuspid aortic valve cases in either the presence or the absence of thoracic aortic aneurysm. Among patients with tricuspid aortic valve, these cells were higher in those also affected by thoracic aortic aneurysm. Similar data were obtained by examining CD19+ B cells, naïve B cells (IgD+CD27-), memory unswitched B cells (IgD+CD27+), memory switched B cells (IgD-CD27+), and double-negative B cells (DN) (IgD-CD27-). These cells resulted to be lower in subjects with bicuspid valve disease with respect to patients with tricuspid aortic valve. In whole, our data indicate that patients with bicuspid valve disease show a quantitative reduction of T and B lymphocyte cell subsets. Future studies are encouraged to understand the molecular mechanisms underlying this observation and its pathophysiological significance.

Recent Developments in Minimally Invasive Cardiac Surgery: Evolution or Revolution?

Intraluminal aortic clamping has been achieved until now by means of a sophisticated device consisting of a three-lumen catheter named Endoclamp, which allows at the same time occlusion of the aorta, antegrade delivering of cardioplegia, and venting through the aortic root. This tool has shown important advantages allowing aortic occlusion and perfusate delivering without a direct contact with ascending aorta reducing meanwhile the risk of traumatic and/or iatrogenic injuries. Recently, a new device (Intraclude catheter) with the same characteristics and properties has been proposed and introduced in clinical practice. The aim of this paper is to investigate the differences between Endoclamp and Intraclude catheters and to analyze the advantages advocated by this new device for intraluminal aortic occlusion since it is noticeable as these new technological tools are gaining more and more attractiveness due to their appraised clinical efficacy.

Are Endothelial Progenitor Cells the Real Solution for Cardiovascular Diseases? Focus on Controversies and Perspectives.

Advanced knowledge in the field of stem cell biology and their ability to provide a cue for counteracting several diseases are leading numerous researchers to focus their attention on "regenerative medicine" as possible solutions for cardiovascular diseases (CVDs). However, the lack of consistent evidence in this arena has hampered the clinical application. The same condition affects the research on endothelial progenitor cells (EPCs), creating more confusion than comprehension. In this review, this aspect is discussed with particular emphasis. In particular, we describe biology and physiology of EPCs, outline their clinical relevance as both new predictive, diagnostic, and prognostic CVD biomarkers and therapeutic agents, discuss advantages, disadvantages, and conflicting data about their use as possible solutions for vascular impairment and clinical applications, and finally underline a very crucial aspect of EPCs "characterization and definition," which seems to be the real cause of large heterogeneity existing in literature data on this topic.

Surgical treatment of renal carcinoma with atrial tumor thrombus avoiding cardiopulmonary bypass: step-by-step description.

Tumor thrombus in the inferior vena cava (IVC) occurs in 4-10% of patients with renal cell carcinoma (RCC) and poses a challenge for the surgical team. Because there is no systemic therapy available to significantly reduce tumor burden, surgical intervention is the only treatment. However, the surgical approach is associated with significant morbidity and mortality. When the thrombus extends above the diaphragm, the use of cardiopulmonary bypass (CPB) and accompanying deep hypothermic circulatory arrest (DHCA) has usually been advocated. However, complications inherent to CPB and DHCA, such as coagulopathy and central nervous system complications, have led us to search for an alternative surgical approach to these tumors. The purpose of this study is to describe the surgical technique used in five patients with large RCC with tumor thrombus extending into the supradiaphragmatic IVC and Right atrium (RA), Right atrium, who underwent extensive resection without CPB and DHCA.

Successful resection of thymoma directly invading the right atrium under cardiopulmonary bypass.

We present the case of an invasive thymoma with severe compression of the right atrium, and infiltration of the atrial wall, causing a superior vena cava (SVC) syndrome. The tumour was resected under cardiopulmonary bypass en bloc with the atrial wall. A bovine pericardial patch was used for atrial reconstruction. We obtained a complete resection of the tumour and regression of symptoms, and, after 1 year of the follow-up, no signs of recurrence are evident. To our knowledge, this is the first case of thymoma directly invading the right atrium, without involvement of the SVC. In this setting, the aggressive surgical approach led to an immediate resolution of the symptoms and contributed to prolonged long-term survival.

Extra-anatomical bypass: a surgical option for recurrent aortic coarctation.

Background. Balloon aortoplasty with or without stenting is a less invasive alternative to open surgery for the management of recurrent isthmic coarctation. However, in patients with previous small size tube graft, an open surgical correction is mandatory and, in most cases, an anatomical aortic reconstruction is carried out. Methods. We present the case of a 48-year-old woman with recurrent aortic coarctation and systemic hypertension with systolic value around 190-200 mmHg and preoperative systolic pressure gradient 70 mmHg, submitted to an extra-anatomical bypass. Through a median sternotomy, an extra-anatomical bypass from ascending to descending aorta was performed. Results. No intra- or postoperative complications were observed. The postoperative pressure gradient was 10 mmHg and the systolic pressure ranged from 130 to 140 mmHg. Conclusion. The extra-anatomical bypass can be considered an effective and safe alternative to the anatomical aortic reconstruction in the cases with recurrent aortic coarctation unfit for endovascular treatment.

3D echocardiographic delineation of mitral-aortic intervalular fibrosa pseudoaneurysm caused by bicuspid aortic valve endocarditis.

Pseudoaneurysm of the mitral-aortic intervalvular fibrosa is a rare complication of infective endocarditis of the aortic valve eventually resulting in coronary artery compression, stroke or rupture into the left atrium, aorta or pericardial space. A prompt diagnosis by either transthoracic or transesophageal echocardiography is mandatory to address the patient to cardiac surgery. We report the clinical case of a 25-year-old white man who was admitted to the emergency department for dyspnoea and fever. Echocardiographic examination showed a bicuspid aortic valve with a huge sessile vegetation and a pseudaneurysm of the mitral-aortic intervalvular fibrosa. In addition to conventional two-dimensional examination, three-dimensional echocardiography provided additional information of this complication, precisely delineating the lesions and addressing the cardiac surgeon in choosing the most appropriate operating strategy. Patient underwent then aortic root replacement and the pseudoaneurysm was closed by means of a bovine pericardial patch.

Management strategies for thoracic stent-graft repair of distal aortic arch lesions: is intentional subclavian artery occlusion a safe procedure?

The aim of this retrospective analysis was to assess the clinical consequences after intentional left subclavian artery (LSA) occlusion. Thirty-seven patients, 27 type B dissection and 10 thoracic aneurysm, with short proximal neck (less than 2 cm) underwent endovascular treatment with intentional exclusion of LSA origin. No immediate complications occurred. Mean arterial pressure gradient, between right and left arms, ranged from 15 to 45 mmHg. After a mean follow-up of 43.70 + or - 24.01 months, mild left arm symptoms secondary to flow reduction occurred in eight cases (21.6%) but only one required LSA transposition, after 8 months, for visual impairment. Type II endoleaks from excluded LSA occurred in 10 cases (27.0%): in seven patients, leaks were treated with coils and/or glue embolization; in one case, leak sealed spontaneously; one patient died before leak embolization could occur; one patient refused any further treatment. Intentional exclusion of the LSA may be justified when a longer proximal landing zone in the aortic arch is required.

Primary leiomyosarcoma of the innominate vein.

Primary venous leiomyosarcoma is rare. We report the case of a primary leiomyosarcoma of the left innominate vein, with neoplastic thrombus extending into the left jugular and subclavian veins. The tumor was curatively resected en bloc with anterior mediastinal and laterocervical lymphatics, through a median sternotomy prolonged into left cervicotomy. Primary venous sarcomas may be associated with prolonged survival in individual cases, with curative resection recommended as the standard treatment, in the absence of distant spread.

Mitral paraprosthetic leak diagnosed by transesophageal echocardiography through nasal way.

Paraprosthetic leaks are a postoperatively complication recurring with a frequency from 15 to 30%, and mostly in the mitral than in the aortic position. Transthoracic echocardiography can suspect prosthesis valve dysfunction, but for both diagnosis and evaluation of the paraprosthetic dysfunction severity, transesophageal study is required. In this report a mitral paraprosthetic dehiscence was diagnosed using a miniaturized, 10 F, monoplane probe inserted through nasal way. This technique, that do not require topical and general anesthesia, appears to be well tolerated providing an accurate and more comfortable examination.

Left ventricular aneurysm repair: early survival.

BACKGROUND: The aim of this study was to evaluate the early survival in patients submitted to left ventricular (LV) repair and concomitant myocardial revascularization. METHODS: We retrospectively reviewed the records of 51 patients who were submitted to LV repair and concomitant myocardial revascularization between January 1998 and June 2003. Of 51 patients (44 males with a mean age of 60+/-9.2 years, and 7 females with a mean age of 61+/-6.5 years), 29 (56.9 %) were submitted to the McCarthy technique, 16 (31.3 %) to the technique that was described by Jatene and modified by Dor, and 6 (11.8%) to the Cooley technique (linear repair). The mean preoperative LV ejection fraction was 36.5+/-7.7 %, the mean preoperative LV end-diastolic diameter was 61.8+/-3.9 mm, the mean preoperative LV end-systolic diameter was 49.9+/-5.1 mm, the mean preoperative interventricular septal thickness was 9.7+/-1.7 mm, and finally, the mean posterior wall thickness was 8.9+/-1 mm. The mean follow-up was 30.7+/-23.4 months (range 11-82 months). RESULTS: One patient died during surgery (1.9%) and one early postoperatively (1.9%). The causes of death were respectively irreversible ventricular fibrillation and low cardiac output syndrome. The overall survival at follow-up was 98% (49 patients). One patient died during follow-up of myocardial infarction. At follow-up, all patients presented with improved clinical symptoms, and had a better mean NYHA functional class with respect to the preoperative value (3.3+/-0.3 vs 2.0+/-0.5, p < 0.05). Besides, the mean CCS angina class decreased in all patients (3.4+/-0.2 vs 1.9+/-0.3, p < 0.05). The average LV ejection fraction increased from 36.3+/-7.7 to 44.3+/-4.9% (p < 0.001), the average LV end-diastolic diameter decreased from 61.7+/-3.9 to 55.5+/-5.6 mm (p < 0.001), and the average LV end-systolic diameter decreased from 49.9+/-5.1 to 40.4+/-5.1 mm (p < 0.001). No statistically significant difference was found between the preoperative and postoperative data regarding the interventricular septal thickness (9.7+/-1.7 vs 10.3+/-1.6 mm, p = NS), and the posterior wall thickness (9.7+/-1 vs 8.8+/-1.3 mm, p = NS). CONCLUSIONS: LV aneurysm repair and concomitant myocardial revascularization may be performed with an acceptable surgical risk and a good early survival.

Comparision of the inotropic effects of levosimendan, rolipram, and dobutamine on human atrial trabeculae.

The aim of this study was to compare the positive inotropic effects of 3 different agents with 3 different mechanisms of actions-levosimendan, rolipram, and dobutamine-on human atrial trabecular muscles. Samples of right atrial appendage (1 cm, 500-1000 mg) were removed and immersed in preoxygenated and modified Tyrode solution. In oxygenated Tyrode solution, preparations were used to investigate the concentration-effect relationship of levosimendan, dobutamine, and rolipram on percentage developed tension (DT), from 10 to 10 M, each concentration for 15 minutes. All 3 agents produced concentration-dependent increments in DT. We found that levosimendan was the most efficacious positive inotropic agent on isolated human atrial trabeculae. Both the sensitivity (pD2) and maximum response (Emax) of human atrial trabeculae to levosimendan (6.711 +/- 0.26 and 23.2 +/- 2.2 mN, respectively) were significantly greater than those of dobutamine (6.663 +/- 0.19 and 17.6 +/- 2.8 mN) and rolipram (6.497 +/- 0.18 and 15.0 +/- 1.0 mN). pD2 and Emax values for dobutamine were significantly higher than those for rolipram. It was suggested that because of its potential to enhance cardiac performance without predisposition to calcium-induced arrhythmias, levosimendan might be more useful as a positive inotropic agent in clinical practice.

Endoluminal stent grafting of the descending thoracic aorta.

BACKGROUND: The timing and optimal therapy for descending thoracic aortic diseases still remain a challenging problem for surgeons. Nowadays endovascular treatment is becoming more and more popular both for acute as well as chronic cases. This technique is more respectful of the tissue integrity and avoids major and demolitive surgery for the patient. METHODS: In 1 year 32 patients presenting with descending thoracic aorta dissection (n = 25) or with descending thoracic aorta aneurysms (n = 7) were submitted to an endovascular procedure using covered stents. Ten of them were operated upon in general anesthesia whereas in 22 spinal anesthesia was administered. In neither group did anesthesia-related complications occur. RESULTS: In all cases in which endovascular treatment was possible, an endovascular stent was used for the treatment of the descending thoracic aorta disease. Only 1 patient had a major complication, which was a retrograde dissection of the ascending aorta surgically treated in an emergency setting. Our policy is to treat uncomplicated type B dissections in the subacute phase after 1 week of antihypertensive pharmacological treatment, but within 1 month of onset. Our mid-term follow-up shows very good results with no mortality and no stent-related complications. CONCLUSIONS: Stent grafting is replacing conventional surgery for descending thoracic aorta aneurysms and dissections. Our results suggest that in case of dissections, endovascular treatment should be delayed until the subacute phase, in the absence of complications. The risks and mortality are decreased.