Association of Intestinal Malrotation and Bochdalek Hernia in an Adult: a Case Report

Background Late presentations of congenital diaphragmatic hernia are rare and differ from the classic neonatal presentation. The association with other congenital malformations in children, mainly intestinal malrotation, is well documented. The diagnosis of this association in adults is very rare, and depends on a high degree of suspicion. Case presentation We report a case of a 50-year-old female Caucasian patient with a previous history of intestinal malrotation diagnosed in adolescence and treated conservatively. She was referred to the hospital with signs and symptoms of intestinal obstruction. The patient undertook computed tomography that confirmed small bowel obstruction with no obvious cause, and a right subphrenic abscess with right empyema was also present. An exploratory laparotomy was performed that revealed an intestinal malrotation associated with a right gangrenous and perforated Bochdalek hernia. Resection of the affected small bowel, closure of the Bochdalek foramen and the Ladd procedure were carried out. Conclusion This case shows a rare association of two rare conditions in adults, and highlights the challenge in reaching the diagnosis and management options.

Alterações Estruturais dos Vasos Pulmonares e Artérias Coronárias na Síndrome do Coração Esquerdo Hipoplásico

Com o objectivo de correlacionar variantes anatómicas com alterações pulmonares e coronárias na síndrome do coração esquerdo hipoplásico (SCEH), fez-se o estudo morfológico e histológico de 15 peças de necrópsia coração-pulmão de recém-nascidos falecidos com aquela patologia. Encontrou-se a forma clássica de SCEH em II peças das quais 3 tinham atrésia da válvula mitral. Nas restantes 4 a aorta saía do ventrículo direito, com ventrículo esquerdo virtual e atrésia da válvula mitral. A histologia pulmonar mostrou aumento da percentagem de espessura das arteríolas e veias pulmonares e extensão intra-acinar da camada muscular das arteríolas em todas as peças. Mas em 8 peças com foramen ovale encerrado ou com diâmetro médio de 5 mm as alterações pulmonares foram mais marcadas do que nas restantes com diâmetro médio do foramen ovale de 9mm. A distribuição coronária foi normal, mas 4 das 8 peças com válvula mitral permeável apresentavam alterações das artérias coronárias não encontradas nas 7 peças com atrésia da válvula mitral. Conclui-se que na SCEH, a existência de foramen ovale encerrado ou restritivo, e de válvula mitral permeável, podem condicionar alterações pulmonares e coronárias, aumentando o risco cirúrgico pelas complicações pós operatórias que possam induzir.

Clinical impact of transesophageal echocardiography in patients with stroke without clinical evidence of cardiovascular sources of emboli

OBJECTIVE: The purpose of this study is to evaluate the impact of transeophageal echocardiography on management of patients at low-risk for cardiogenic embolism to prevent new potential cardiovascular sources of emboli. METHODS: We studied 69 patients with ischemic stroke at low-risk for cardiogenic embolism. Transeophageal echocardiography was performed to access: left atrium enlargement; communication or aneurysm of the interatrial septum; patent foramen ovale; spontaneous echo contrast or intracavitary thrombi; the presence of intraaortic atherosclerotic plaques or thrombi; significant valvar morphologic alteration or dysfunction; left ventricle enlargement, hypertrophy, or contractile abnormality. Transesophageal echocardiography altered clinical management, and we adopted anticoagulant therapy or another procedure apart from the use of acetylsalicylic acid. RESULTS: Transeophageal echocardiography detected at least one abnormality in 40 cases (58%). Clinical conduct was adjusted after the performance of transesophageal echocardiography in 11 patients (15.9%); anticoagulation was added in 10 cases and surgical correction in one patient. CONCLUSION: Transeophageal echocardiography was a very useful tool in the secondary prevention for stroke in patients at low risk for cardiogenic embolism.

Initial experience in Brazil with the Helex septal occluder for percutaneous occlusion of atrial septal defects

OBJECTIVE: To evaluate the initial clinical experience with the Helex septal occluder for percutaneous closure of atrial septal defects. METHODS: Ten patients underwent the procedure, 7 patients with ostium secundum atrial septal defects (ASD) with hemodynamic repercussions and 3 patients with pervious foramen ovale (PFO) and a history of stroke. Mean age was 33.8 years and mean weight was 55.4 kg. Mean diameter by transesophageal echocardiography and mean stretched ASD diameter were 11.33 ± 3.3mm, and 15.2 ± 3.8mm, respectively. The Qp/Qs ratio was 1.9 ± 0.3 in patients with ASD. RESULTS: Eleven occluders were placed because a patient with 2 holes needed 2 devices. It was necessary to retrieve and replace 4 devices in 3 patients. We observed immediate residual shunt (< 2mm) in 4 patients with ASD, and in those with patent foramen ovale total occlusion of the defect occurred. No complications were noted, and all patients were discharged on the following day. After 1 month, 2 patients with ASD experienced trivial residual shunts (1mm). In 1 patient, we observed mild prolapse in the proximal disk in the right atrium, without consequences. CONCLUSION: The Helex septal occluder was safe and effective for occluding small to moderate atrial septal defects. Because the implantation technique is demanding, it requires specific training of the operator. Even so, small technical failures may occur in the beginning of the learning curve, but they do not involve patient safety.

Non-assisted versus neuro-navigated and XperCT-guided external ventricular catheter placement: a comparative cadaver study.

BACKGROUND AND PURPOSE: Accurate placement of an external ventricular drain (EVD) for the treatment of hydrocephalus is of paramount importance for its functionality and in order to minimize morbidity and complications. The aim of this study was to compare two different drain insertion assistance tools with the traditional free-hand anatomical landmark method, and to measure efficacy, safety and precision. METHODS: Ten cadaver heads were prepared by opening large bone windows centered on Kocher's points on both sides. Nineteen physicians, divided in two groups (trainees and board certified neurosurgeons) performed EVD insertions. The target for the ventricular drain tip was the ipsilateral foramen of Monro. Each participant inserted the external ventricular catheter in three different ways: 1) free-hand by anatomical landmarks, 2) neuronavigation-assisted (NN), and 3) XperCT-guided (XCT). The number of ventricular hits and dangerous trajectories; time to proceed; radiation exposure of patients and physicians; distance of the catheter tip to target and size of deviations projected in the orthogonal plans were measured and compared. RESULTS: Insertion using XCT increased the probability of ventricular puncture from 69.2 to 90.2 % (p = 0.02). Non-assisted placements were significantly less precise (catheter tip to target distance 14.3 ± 7.4 mm versus 9.6 ± 7.2 mm, p = 0.0003). The insertion time to proceed increased from 3.04 ± 2.06 min. to 7.3 ± 3.6 min. (p < 0.001). The X-ray exposure for XCT was 32.23 mSv, but could be reduced to 13.9 mSv if patients were initially imaged in the hybrid-operating suite. No supplementary radiation exposure is needed for NN if patients are imaged according to a navigation protocol initially. CONCLUSION: This ex vivo study demonstrates a significantly improved accuracy and safety using either NN or XCT-assisted methods. Therefore, efforts should be undertaken to implement these new technologies into daily clinical practice. However, the accuracy versus urgency of an EVD placement has to be balanced, as the image-guided insertion technique will implicate a longer preparation time due to a specific image acquisition and trajectory planning.

PFO closure vs. medical therapy in cryptogenic stroke or transient ischemic attack: A systematic review and meta-analysis.

BACKGROUND/OBJECTIVES: This study aims to assess whether patent foramen ovale (PFO) closure is superior to medical therapy in preventing recurrence of cryptogenic ischemic stroke or transient ischemic attack (TIA). METHODS: We searched PubMed for randomized trials which compared PFO closure with medical therapy in cryptogenic stroke/TIA using the items: "stroke or cerebrovascular accident or TIA" and "patent foramen ovale or paradoxical embolism" and "trial or study". RESULTS: Among 650 potentially eligible articles, 3 were included including 2303 patients. There was no statistically significant difference between PFO-closure and medical therapy in ischemic stroke recurrence (1.91% vs. 2.94% respectively, OR: 0.64, 95%CI: 0.37-1.10), TIA (2.08% vs. 2.42% respectively, OR: 0.87, 95%CI: 0.50-1.51) and death (0.60% vs. 0.86% respectively, OR: 0.71, 95%CI: 0.28-1.82). In subgroup analysis, there was significant reduction of ischemic strokes in the AMPLATZER PFO Occluder arm vs. medical therapy (1.4% vs. 3.04% respectively, OR: 0.46, 95%CI: 0.21-0.98, relative-risk-reduction: 53.2%, absolute-risk-reduction: 1.6%, number-needed-to-treat: 61.8) but not in the STARFlex device (2.7% vs. 2.8% with medical therapy, OR: 0.93, 95%CI: 0.45-2.11). Compared to medical therapy, the number of patients with new-onset atrial fibrillation (AF) was similar in the AMPLATZER PFO Occluder arm (0.72% vs. 1.28% respectively, OR: 1.81, 95%CI: 0.60-5.42) but higher in the STARFlex device (0.64% vs. 5.14% respectively, OR: 8.30, 95%CI: 2.47-27.84). CONCLUSIONS: This meta-analysis does not support PFO closure for secondary prevention with unselected devices in cryptogenic stroke/TIA. In subgroup analysis, selected closure devices may be superior to medical therapy without increasing the risk of new-onset AF, however. This observation should be confirmed in further trials using inclusion criteria for patients with high likelihood of PFO-related stroke recurrence.

High altitude, a natural research laboratory for the study of cardiovascular physiology and pathophysiology.

High altitude constitutes an exciting natural laboratory for medical research. Although initially, the aim of high-altitude research was to understand the adaption of the organism to hypoxia and find treatments for altitude-related diseases, during the past decade or so, the scope of this research has broadened considerably. Two important observations led the foundation for the broadening of the scientific scope of high-altitude research. First, high-altitude pulmonary edema represents a unique model that allows studying fundamental mechanisms of pulmonary hypertension and lung edema in humans. Second, the ambient hypoxia associated with high-altitude exposure facilitates the detection of pulmonary and systemic vascular dysfunction at an early stage. Here, we will review studies that, by capitalizing on these observations, have led to the description of novel mechanisms underpinning lung edema and pulmonary hypertension and to the first direct demonstration of fetal programming of vascular dysfunction in humans.

REDUCTION OF MIGRAINES AFTER TREATMENT OF HEREDITARYHEMORRHAGIC TELANGIECTASIA (HHT)

Background: Pulmonary arteriovenous malformations (PAVMs) due to hereditaryhemorrhagic telangiectases (HHT) is associated with paradoxical strokes, brainabcesses, and increased prevalence of migraines. We report a patient in whom wefound a relationship between PAMVs and a reduction in frequency of migrainewith aura after the treatment of the first pulmonary malformation.Patient and methods: A 67-year-old woman developed migraine with visual auraand major epistaxis during childhood. A PAVM is discovered and surgically removedin 1969. Migraines nearly disappeared during several years, after which theystarted to reappear progressively. A HHT syndrome is diagnosed based on recurrentepistaxis, the development of cutaneous telangiectases and a positive family history.She suffered a left subcortical stroke in 2008. Perfusion CT, chest radiography,thoracic CT-angiography, contrast echocardiography, contrast transcranial Dopplerand cerebral MRI were performed.Results: Perfusion CT showed previous asymptomatic strokes in cerebellum andbasal ganglia. 4 PAMVs were confirmed on the chest x-ray whose structural conformationis identified on thoracic CT. Contrast echocardiography and transcranialDoppler showed a massive right to left shunt. It is planned to embolize the 4PAVMs, and migraine frequency will now be prospectively assessed.Conclusion: This patient with a pulmonary arteriovenous malformation showeda reduced migraine frequency after resection of her lung lesion. This suggests acausal relationship between a right to left shunt and migraine, as discussed inpatients with patent foramen ovale.

Bases genètiques de la malformació de Chiari

La Malformació de Chiari tipus I (MCI) ha estat definida tradicionalment com la herniació de les amígdales cerebel•loses d’almenys 5mm, a través del forat mange. En general, els símptomes es posen de manifest durant la segona o tercera dècada de vida, tot i que s’han descrit casos pediàtrics. Donada la complexitat del quadre clínic, per realitzar un diagnòstic adient es requereix avaluació clínica i estudi de neuroimatge. La tècnica de preferència és la ressonància magnètica d’imatge, considerant-se actualment com a pacients de MCI aquells que presenten un descens de les amígdales superior a 3mm per sota del forat magne. L'existència de casos asimptomàtics dificulta establir una prevalença concreta, però s’ha estimat que podria estar entre 1/1000 a 1/5000 sent major en dones que en homes (2:1 aproximadament). Fins el moment, es desconeix l’etiologia de la malaltia però la hipòtesi més acceptada és que MCI és deguda al desenvolupament insuficient del mesoderm paraxial. Diferents estudis realitzats fins el moment evidencien que almenys, un subgrup de pacients amb MCI són deguts a contribució genètica: 1) casos d’agregació familiar amb afectes en tres generacions; 2) estudis de bessons 3) associació amb síndromes genètics coneguts amb herència mendeliana produïts per anomalies óssies que donen suport a la hipòtesi de la insuficiència del mesoderm com a causa de MCI. Davant l’evidència clara d’un component genètic com a principal causant de l’etiologia de MCI, l’objectiu del projecte va ser la identificació de les bases genètiques de la MCI, tant en gens responsables de les formes mendelianes com en gens responsables de les formes complexes de MCI mitjançant dues estratègies: 1-Identificació de variants genètiques de susceptibilitat en pacients amb MCI mitjançant estudis d’associació de tipus cas-control. 2-Anàlisi genètic de formes monogèniques mitjançant l’anàlisi de lligament a marcardors polimòrfics i la seqüenciació del DNA a gran escala.

Late migration of percutaneous bio-absorbable devices--a word of caution.

BACKGROUND: Closures of atrial septal defects or a patent foramen ovale (PFO) are increasingly performed percutaneously. The experience of late migration of a new bio-absorbable device is presented here, followed by conceptual discussion. METHODS: Six months post PFO closure with a BioSTAR® device a patient presented with chest pain. Echocardiography showed a hyperechogenic structure perforating the aortic wall. RESULTS: Surgical exploration showed a perforation of the ascending aorta by one metallic, non absorbable arm. This is the second case of late (>6 months) dislocation of the residual framework of the occluder. CONCLUSIONS: The overall incidence of perforation of cardiac structures due to secondary dislocation is low. However this complication exists and should kept in mind in symptomatic patients with new onset of chest pain, after percutaneous procedures. The concept of biodegradation, with residual, non absorbable metal braiding, should be reviewed, analyzing in particular long term results and incidence of secondary dislocation.

Recurrent stroke predictors differ in medically treated patients with pathogenic vs. other PFOs.

OBJECTIVE: To examine predictors of stroke recurrence in patients with a high vs a low likelihood of having an incidental patent foramen ovale (PFO) as defined by the Risk of Paradoxical Embolism (RoPE) score. METHODS: Patients in the RoPE database with cryptogenic stroke (CS) and PFO were classified as having a probable PFO-related stroke (RoPE score of >6, n = 647) and others (RoPE score of ≤6 points, n = 677). We tested 15 clinical, 5 radiologic, and 3 echocardiographic variables for associations with stroke recurrence using Cox survival models with component database as a stratification factor. An interaction with RoPE score was checked for the variables that were significant. RESULTS: Follow-up was available for 92%, 79%, and 57% at 1, 2, and 3 years. Overall, a higher recurrence risk was associated with an index TIA. For all other predictors, effects were significantly different in the 2 RoPE score categories. For the low RoPE score group, but not the high RoPE score group, older age and antiplatelet (vs warfarin) treatment predicted recurrence. Conversely, echocardiographic features (septal hypermobility and a small shunt) and a prior (clinical) stroke/TIA were significant predictors in the high but not low RoPE score group. CONCLUSION: Predictors of recurrence differ when PFO relatedness is classified by the RoPE score, suggesting that patients with CS and PFO form a heterogeneous group with different stroke mechanisms. Echocardiographic features were only associated with recurrence in the high RoPE score group.

Endoscopic Approach and Management of Parasellar Lesions

The parasellar region is the location of a wide variety of inflammatory and benign or malignant lesions. A pathological diagnostic strategy may be difficult to establish relying solely on imaging data. Percutaneous biopsy through the foramen ovale using the Hartel technique has been developed for decision-making process. It is an accurate diagnostic tool allowing pathological diagnosis to determine the best treatment strategy. However, in some cases, this procedure may fail or may be inappropriate particularly for anterior parasellar lesions. Over these past decades, endoscopy has been widely developed and promoted in many indications. It represents an interesting alternative approach to parasellar lesions with low morbidity when compared to the classic microscopic sub-temporal extradural approach with or without orbito-zygomatic removal. In this chapter, we describe our experience with the endoscopic approach to parasellar lesions. We propose a complete overview of surgical anatomy and describe methods and results of the technique. We also suggest a model of a decision-making tree for the diagnosis and treatment of parasellar lesions.

New insights in the pathogenesis of high-altitude pulmonary edema.

High-altitude pulmonary edema is a life-threatening condition occurring in predisposed but otherwise healthy individuals. It therefore permits the study of underlying mechanisms of pulmonary edema in the absence of confounding factors such as coexisting cardiovascular or pulmonary disease, and/or drug therapy. There is evidence that some degree of asymptomatic alveolar fluid accumulation may represent a normal phenomenon in healthy humans shortly after arrival at high altitude. Two fundamental mechanisms then determine whether this fluid accumulation is cleared or whether it progresses to HAPE: the quantity of liquid escaping from the pulmonary vasculature and the rate of its clearance by the alveolar respiratory epithelium. The former is directly related to the degree of hypoxia-induced pulmonary hypertension, whereas the latter is determined by the alveolar epithelial sodium transport. Here, we will review evidence that, in HAPE-prone subjects, impaired pulmonary endothelial and epithelial NO synthesis and/or bioavailability may represent a central underlying defect predisposing to exaggerated hypoxic pulmonary vasoconstriction and, in turn, capillary stress failure and alveolar fluid flooding. We will then demonstrate that exaggerated pulmonary hypertension, although possibly a conditio sine qua non, may not always be sufficient to induce HAPE and how defective alveolar fluid clearance may represent a second important pathogenic mechanism.

High-altitude exposure in patients with cardiovascular disease: risk assessment and practical recommendations.

Because of the development of modern transportation facilities, an ever rising number of individuals including many patients with preexisting diseases visit high-altitude locations (>2500 m). High-altitude exposure triggers a series of physiologic responses intended to maintain an adequate tissue oxygenation. Even in normal subjects, there is enormous interindividual variability in these responses that may be further amplified by environmental factors such as cold temperature, low humidity, exercise, and stress. These adaptive mechanisms, although generally tolerated by most healthy subjects, may induce major problems in patients with preexisting cardiovascular diseases in which the functional reserves are already limited. Preexposure assessment of patients helps to minimize risk and detect contraindications to high-altitude exposure. Moreover, the great variability and nonpredictability of the adaptive response should encourage physicians counseling such patients to adapt a cautionary approach. Here, we will briefly review how high-altitude adjustments may interfere with and aggravate/decompensate preexisting cardiovascular diseases. Moreover, we will provide practical recommendations on how to investigate and counsel patients with cardiovascular disease desiring to travel to high-altitude locations.

Vascular postpneumonectomy syndrome: inferior vena cava and pulmonary vein compression as unusual cause for platypnea-orthodeoxia following pneumonectomy

Background: Excessive mediastinal shift into the vacated thoracic cavity after pneumonectomy can result in dyspnea without hypoxemia by compression of the tracheobronchial tree, a phenomenon called postpneumonectomy syndrome. More rarely hypoxemia in upright position (platypnea-orthodeoxia syndrome, POS) after pneumonectomy can result from re-opening of an atrial right-to-left shunt through a patent foramen ovale (PFO) due to mediastinal distorsion. Review of literature also shows a unique report of pulmonary veins stenosis resulting in POS without intracardiac shunt after pneumonectomy. Methods: We report the case of a 32-year-old woman who presented POS 6 months after right pneumonectomy for destroyed lung post tuberculosis. Results: The patient described severe dyspnea disappearing when lying. SpO2 decreased from 94% when lying to 60% sitting. Transthoracic echocardiography (TTE) suspected a possible PFO. We first tried to highlight clinical repercussions of PFO by noninvasive exams. Hyperoxia shunt quantification was not tolerated because of increased dyspnea in sitting position. Contrast bubbles TTE was difficult because of the important mediastinal shift but identified only rare left heart bubbles with/without Valsalva both in lying and sitting position, excluding a significant right-to-left shunt. A lung perfusion scintigraphy (injection while sitting) confirmed the absence of systemic isotope uptake. Computed tomographic pulmonary angiography (angio-CT) revealed a stretched but not stenosed left main bronchus, while the shift of the heart into the right cavity was major. Pulmonary angiography did not show embolism but revealed compression of the inferior vena cava (IVC) with impaired venous return to the right heart, as well as compression of the left pulmonary veins. There was no arteriovenous shunt. Cardiac MRI showed torsion of IVC at the level of the diaphragm, and strong atrial contraction contributing to a passive filling of the RV, while the right ventricle was normal. Right catheterism showed major hemodynamic disturbances with negative diastolic pressure in right heart cavities (atrium -12 mm Hg ventricle pressure -7 mm Hg). SaO2 measured in the pulmonary artery decreased from 58% when lying to 45% sitting. Conclusion: We described here an exceedingly rare and complex mechanism explaining POS after right pneumonectomy. Mediastinal repositioning with a silicone breast implant of appropriate size has been scheduled.