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Introduction: Gomez-Lopez-Hernandez Syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia is an extremely rare neuro-cutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supra-tentorial anomalies, as well as neurodevelopmental issues. Case presentation: Here, we present a case of antenatally diagnosed GLHS with RES, hydrocephaly and craniofacial anomalies identified on ultrasound (low-set ears with posterior rotation, hypertelorism, midface hypoplasia, micrognathia and anteverted nares) which were confirmed by autopsy after termination of pregnancy at 23 weeks gestation. Discussion: As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuro-imaging and the identification of supporting features. In presence of a RES associated with cranio-facial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible” according to postnatal criteria.

A radial-to-femoral pressure gradient (RFPG) can occur in roughly one-third of cardiac surgical patients. Such a gradient has been associated with smaller stature and potentially smaller radial artery diameter. We hypothesized that preoperative radial artery diameter could be a predictor of RFPG. We also investigated the clinical impact of using a femoral versus a radial arterial catheter in terms of vasoactive support.Using ultrasound, we measured the bilateral radial artery diameters of 160 cardiac surgical patients. All arterial pressure values were continuously recorded. Significant RFPG was defined as ≥25 mm Hg in systolic and/or ≥10 mm Hg in mean arterial pressure. One hundred and forty-nine additional patients were used to validate the impact of our observations.Using 78,013 pressure datapoints in 129 patients, 34.8% of patients had an RFPG with a mean duration of 54 ± 48 minutes. Patients with a radial artery diameter1.8 mm were more likely to have an RFPG (n = 14 [48.3%] vs 12 [22.2%];A significant RFPG occurs in one-third of cardiac surgical patients and in 48% of those with a radial artery diameter1.8 mm. The use of a single radial arterial catheter instead of dual radial and femoral catheters was associated with greater vasopressor requirements in the operating room and in the intensive care unit. We do not recommend the use of a single radial artery catheter in cardiac surgery.

Regional cerebral oxygen saturation (rS o2 ) obtained from near-infrared spectroscopy (NIRS) provides valuable information during cardiac surgery. The rS o2 is calculated from the proportion of oxygenated to total hemoglobin in the cerebral vasculature. Root O3 cerebral oximetry (Masimo) allows for individual identification of changes in total (ΔcHbi), oxygenated (Δ o2 Hbi), and deoxygenated (ΔHHbi) hemoglobin spectral absorptions. Variations in these parameters from baseline help identify the underlying mechanisms of cerebral desaturation. This case series represents the first preliminary description of Δ o2 Hbi, ΔHHbi, and ΔcHbi variations in 10 cardiac surgical settings. Hemoglobin spectral absorption changes can be classified according to 3 distinct variations of cerebral desaturation. Reduced cerebral oxygen content or increased cerebral metabolism without major blood flow changes is reflected by decreased Δ o2 Hbi, unchanged ΔcHbi, and increased ΔHHbi Reduced cerebral arterial blood flow is suggested by decreased Δ o2 Hbi and ΔcHbi, with variable ΔHHbi. Finally, acute cerebral congestion may be suspected with increased ΔHHbi and ΔcHbi with unchanged Δ o2 Hbi. Cerebral desaturation can also result from mixed mechanisms reflected by variable combination of those 3 patterns. Normal cerebral saturation can occur, where reduced cerebral oxygen content such as anemia is balanced by a reduction in cerebral oxygen consumption such as during hypothermia. A summative algorithm using rS o2 , Δ o2 Hbi, ΔHHbi, and ΔcHbi is proposed. Further explorations involving more patients should be performed to establish the potential role and limitations of monitoring hemoglobin spectral absorption signals.

Background: Familial hypercholesterolemia can be efficiently treated with combined lipid-lowering drugs. Lipid-lowering drugs are usually withdrawn for pregnancy and breastfeeding, ideally preconception, followed by lipid apheresis, however, careful plans can be precipitated due to unexpected pregnancy.Case: A 28-year old woman with familial hypercholesterolemia due to heterozygous LDLR mutations had an LDL-cholesterol level at 14.6 mmol/L and Lp(a) at 1150 mg/L. She required a three-vessel coronary artery bypass graft, drug-eluting stents, rosuvastatin, ezetimibe, and alirocumab at maximal dosage. Contraception was advised during the following 12 months, with a planned drug withdrawal to bridge with lipid apheresis, such as the direct adsorption of lipoproteins (DALI). However, an unplanned pregnancy required an abrupt stop of all oral medications at six gestational weeks, except for aspirin. Lipid apheresis controlled LDL-cholesterol in the range of 4.9-7.9 mmol/L (before DALI session) to 1.2-3.2 mmol/L (after DALI session). Later, the regular pregnancy ultrasounds highlighted an isolated agenesis of the corpus callosum later confirmed by magnetic resonance imaging.Conclusions: A causal link between the early pregnancy exposure to PCSK9 inhibitors (or statins and ezetimibe taken concomitantly) and the observed complete agenesis of the corpus callosum seems unlikely in this case. Guidelines do not specifically recommend preconception measures to lower fetal and/or maternal risks of patients with severe FH considering pregnancy. We argue that lipid apheresis and other measures should be discussed with women with FH and maternity project on an individual basis, until pharmacoepidemiology studies assessing the safety of PCSK9 inhibitors in pregnancy are available.

Objectives The aim of the present study was to describe a bicaval endovascular occlusion technique in minimally invasive tricuspid valve (TV) surgery in patients with previous cardiac surgery. Design Case series. Setting Single tertiary university center. Participants The study comprised ten patients. Interventions Endovascular occlusion of vena cavae for minimally invasive TV redo surgery. Measurements and Main Results Between 2008 and 2017, ten patients with previous cardiac surgery underwent TV minimally invasive surgery (repair or replacement; isolated or with concomitant procedures) using the Coda balloon catheter (Cook Medical, Bloomington, IN) to occlude both vena cavae. Data were collected retrospectively from electronic medical records. Superior and inferior vena cava occlusion with Coda balloon catheters was successful with no complications. The drainage of the vena cavae was optimal with excellent surgical exposure. Cardiopulmonary bypass time was 131 ± 119 minutes, with 30% of patients undergoing aortic clamping (two with a Chitwood clamp, one with an endoaortic balloon). Intensive care unit length of stay was 3.9 ± 2.7 days, and the in-hospital mortality rate was 30%. Conclusion Bicaval endovascular occlusion of vena cavae is a feasible and effective technique in patients with previous cardiac surgery who are undergoing a minimally invasive TV procedure. The high mortality rate is associated with the inherent risk of a redo surgery involving the TV.

BackgroundNext-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnosed diseases. To date, biallelic missense variants in ZNF526 gene, encoding a Krüppel-type zinc-finger protein, have been reported in three families with non-syndromic intellectual disability.MethodsHere, we describe five individuals from four unrelated families with an undiagnosed neurodevelopmental disorder in which we performed exome sequencing, on a combination of trio-based (4 subjects) or single probands (1 subject).ResultsWe identified five patients from four unrelated families with homozygous ZNF526 variants by whole exome sequencing. Four had variants resulting in truncation of ZNF526; they were affected by severe prenatal and postnatal microcephaly (ranging from −4 SD to −8 SD), profound psychomotor delay, hypertonic–dystonic movements, epilepsy and simplified gyral pattern on MRI. All of them also displayed bilateral progressive cataracts. A fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (−2 SD), progressive bilateral cataracts, severe intellectual disability and unremarkable brain MRI.Mutant znf526 zebrafish larvae had notable malformations of the eye and central nervous system, resembling findings seen in the human holoprosencephaly spectrum.ConclusionOur findings support the role of ZNF526 biallelic variants in a complex neurodevelopmental disorder, primarily affecting brain and eyes, resulting in severe microcephaly, simplified gyral pattern, epileptic encephalopathy and bilateral cataracts.

Background De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. Methods Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. Results We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype–phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. Limitations The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. Conclusions Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate.

While intra-abdominal hypertension (IAH) has been associated with adverse outcomes in multiple settings, the epidemiology and clinical implications of IAH in the context of cardiac surgery are less known. In this study, we aimed to describe the prevalence of IAH in patients undergoing cardiac surgery and determine its association with patient characteristics and postoperative outcomes.We conducted a single-centre prospective cohort study in which intra-abdominal pressure was measured in the operating room after general anesthesia (T1), after the surgical procedure (T2), and two hours after intensive care unit (ICU) admission (T3) in a subset of patients. Intra-abdominal hypertension was defined as intra-abdominal pressure (IAP) ≥ 12 mm Hg. Postoperative outcomes included death, acute kidney injury (AKI), and length of stay in the ICU and hospital.A total of 513 IAP measurements were obtained from 191 participants in the operating room and 131 participants in the ICU. Intra-abdominal hypertension was present in 105/191 (55%) at T1, 115/191 (60%) at T2, and 31/131 (24%) at T3. Intra-abdominal pressure was independently associated with body mass index, central venous pressure, and mean pulmonary artery pressure but was not associated with cumulative fluid balance. Intraoperative IAH was not associated with adverse outcomes including AKI.Intra-abdominal hypertension is very common during cardiac surgery but its clinical implications are uncertain.RéSUMé: OBJECTIF: Bien que l’hypertension intra-abdominale (HIA) ait été associée à des issues indésirables dans de multiples contextes, l’épidémiologie et les implications cliniques de l’HIA dans le contexte de la chirurgie cardiaque sont moins connues. Dans cette étude, nous avons cherché à décrire la prévalence de l’HIA chez les patients bénéficiant d’une chirurgie cardiaque et à déterminer son association avec les caractéristiques des patients et les issues postopératoires. MéTHODE: Nous avons mené une étude de cohorte prospective monocentrique dans laquelle la pression intra-abdominale a été mesurée en salle d’opération après une anesthésie générale (T1), après l’intervention chirurgicale (T2) et deux heures après l’admission à l’unité de soins intensifs (USI) (T3) dans un sous-ensemble de patients. L’hypertension intra-abdominale a été définie comme une pression intra-abdominale (PIA) ≥ 12 mmHg. Les issues postopératoires comprenaient le décès, l’insuffisance rénale aiguë (IRA), et la durée du séjour à l’USI et à l’hôpital. RéSULTATS: Au total, 513 mesures de la PIA ont été obtenues auprès de 191 participants en salle d’opération et de 131 participants à l’USI. L’hypertension intra-abdominale était présente chez 105/191 patients (55 %) à T1, 115/191 (60 %) à T2 et 31/131 (24 %) à T3. La pression intra-abdominale était indépendamment associée à l’indice de masse corporelle, à la pression veineuse centrale et à la pression artérielle pulmonaire moyenne, mais n’était pas associée à un bilan hydrique cumulatif. L’HIA peropératoire n’était pas associée à des issues indésirables, y compris à l’IRA. CONCLUSION: L’hypertension intra-abdominale est très fréquente lors d’une chirurgie cardiaque, mais ses implications cliniques sont incertaines.

ObjectiveLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is regarded a relatively mild leukodystrophy, diagnosed by characteristic long tract abnormalities on MRI and biallelic variants in DARS2, encoding mitochondrial aspartyl-tRNA synthetase (mtAspRS). DARS2 variants in LBSL are almost invariably compound heterozygous; in 95% of cases, 1 is a leaky splice site variant in intron 2. A few severely affected patients, still fulfilling the MRI criteria, have been described. We noticed highly unusual MRI presentations in 15 cases diagnosed by WES. We examined these cases to determine whether they represent consistent novel LBSL phenotypes.MethodsWe reviewed clinical features, MRI abnormalities, and gene variants and investigated the variants' impact on mtAspRS structure and mitochondrial function.ResultsWe found 2 MRI phenotypes: early severe cerebral hypoplasia/atrophy (9 patients, group 1) and white matter abnormalities without long tract involvement (6 patients, group 2). With antenatal onset, microcephaly, and arrested development, group 1 patients were most severely affected. DARS2 variants were severer than for classic LBSL and severer for group 1 than group 2. All missense variants hit mtAspRS regions involved in tRNAAsp binding, aspartyl-adenosine-5′-monophosphate binding, and/or homodimerization. Missense variants expressed in the yeast DARS2 ortholog showed severely affected mitochondrial function.ConclusionsDARS2 variants are associated with highly heterogeneous phenotypes. New MRI presentations are profound cerebral hypoplasia/atrophy and white matter abnormalities without long tract involvement. Our findings have implications for diagnosis and understanding disease mechanisms, pointing at dominant neuronal/axonal involvement in severe cases. In line with this conclusion, activation of biallelic DARS2 null alleles in conditional transgenic mice leads to massive neuronal apoptosis.

Right ventricular (RV) dysfunction is a cause of increased morbidity and mortality in both cardiac surgery and noncardiac surgery and in the intensive care unit. Early diagnosis of this condition still poses a challenge. The diagnosis of RV dysfunction traditionally is based on a combination of echocardiography, hemodynamic measurements, and clinical symptoms. This review describes the method of using RV pressure waveform analysis to diagnose and grade the severity of RV dysfunction. The authors describe the technique, optimal use, and pitfalls of this method, which has been used at the Montreal Heart Institute since 2002, and review the current literature on this method. The RV pressure waveform is obtained using a pulmonary artery catheter with the capability of measuring RV pressure by connecting a pressure transducer to the pacemaker port. The authors describe how RV pressure waveform analysis can facilitate the diagnosis of systolic and diastolic RV dysfunction, the evaluation of RV-arterial coupling, and help diagnose RV outflow tract obstruction. RV pressure waveform analysis also can be used to guide pharmacologic treatment and fluid resuscitation strategies for RV dysfunction.

Objective To report the authors’ 12 years of experience with intratracheal milrinone administration and to assess the efficacy and limitations of intratracheal milrinone bolus administration for the treatment of unexpected acute right ventricular (RV) failure in patients undergoing cardiac surgery. Design Retrospective analysis. Setting Single-center university hospital. Participants One hundred seventy-six patients (4.6%) undergoing on-pump cardiac surgery. Interventions Endotracheal tube administration of milrinone (5-mg bolus) after unexpected acute RV failure during separation from cardiopulmonary bypass (CPB) weaning. RV failure was defined as the simultaneous presence of all of the following criteria: (1) hemodynamic instability or difficult separation from CPB with associated elevated central venous pressure or abnormal RV pressure waveform, (2) >20% reduction of RV fractional area change from baseline evaluated by transesophageal echocardiography, and (3) anatomical visualization of impaired or absent RV wall motion by direct intraoperative visual inspection. Measurements and Main Results Intratracheal milrinone administration was found to improve RV failure in 109 patients (61.9%) whereas RV failure persisted in 67 patients (38.1%). Using a multiple logistic regression model, severely decreased left ventricular ejection fraction ( 50%) (adjusted odds ratio [OR] 3.72; 95% confidence interval [CI] 1.2-11.3; p = 0.012), longer CPB time (adjusted OR 1.014; CI 1.01-1.02; p = 0.001) and elevated postoperative fluid balance (adjusted OR 1.39; CI 1.1-1.8; p = 0.02) were found to be significant predictors of persistent RV failure. Conclusion Intratracheal instillation of milrinone was associated with clinical improvement of RV failure occurring during separation from CPB in almost two-thirds of patients. Factors limiting its therapeutic efficacy include severe left ventricular dysfunction, increased fluid balance, and long CPB time.

A pilot study was conducted aiming at specifying sultiame's pharmacokinetic profile, completed by in vitro assays evaluating the intraerythrocytic transfer of sultiame and by a pharmacokinetic model assessing its distribution. Single oral doses of sultiame (Ospolot ® 50, 100, and 200 mg) were administered in open-label to four healthy volunteers. Serial plasma, whole blood, and urine samples were collected. A spiking experiment was also performed to characterize sultiame's exchanges between plasma and erythrocytes in vitro. Pharmacokinetic parameters were evaluated using standard noncompartmental calculations and nonlinear mixed-effect modeling. The plasma maximal concentrations (C max ) showed striking nonlinear disposition of sultiame, with a 10-fold increase while doses were doubled. Conversely, whole blood C max increased less than dose proportionally while staying much higher than in plasma. Quick uptake of sultiame into erythrocytes observed in vivo was confirmed in vitro, with minimal efflux. A two-compartment model with first-order absorption, incorporating a saturable ligand to receptor binding, described the data remarkably well, indicating apparent plasma clearance of 10.0 L/h (BSV: 29%) and distribution volume of 64.8 L; saturable uptake into an intracellular compartment of 3.3 L with a maximum binding capacity of 111 mg accounted for nonlinearities observed in plasma and whole blood concentrations. Pharmacokinetic characteristics of sultiame are reported, including estimates of clearance and volume of distribution that were so far unpublished. The noticeable nonlinearity in sultiame disposition should be taken into account for the design of future studies and the interpretation of therapeutic drug monitoring results.

A previously healthy 9-year-old boy presented with a history of fatigue for 3 weeks, pain in both calves for 2 days, and a mild cough, without fever. His medical history was negative and vaccinations were up to date. Examination by his pediatrician only showed decreased deep tendon reflexes (DTR) in both lower limbs. Blood count (white blood cells [WBC] 5.4 G/L, hemoglobin [Hb] 138 g/L, thrombocytes [Tc] 251 G/L), thyroid-stimulating hormone (1.76 mU/L), creatine kinase (CK) level (104 U/L), and erythrocyte sedimentation rate (3 mm/h) were all normal. Epstein-Barr virus monotest was negative and blood serology suggested a past infection.

Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood. Case presentation We report on a child with this monoallelic UBTF variant who presented with progressive disease including regression, episodes of subacute deterioration during febrile illnesses and a remarkable EEG pattern with a transient pattern of semi-periodic slow waves. Conclusions This case further supports the phenotype-genotype correlation of neurodegeneration associated with UBTF c.628G>A. Moreover, it brings new insights into the clinical features and EEG that could possibly serve as diagnostic markers of this otherwise nonspecific phenotype.

Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4–5) confer high risk for neurodevelopmental disorders and are associated with structural brain alterations of large effect-size. Methods used in previous studies were unable to investigate the onset of these alterations and whether they evolve with age. In this study, we aim at characterizing age-related effects of 16p11.2 copy number variants by analyzing a group with a broad age range including younger individuals. A large normative developmental dataset was used to accurately adjust for effects of age. We normalized volumes of segmented brain regions as well as volumes of each voxel defined by tensor-based morphometry. Results show that the total intracranial volumes, the global gray and white matter volumes are respectively higher and lower in deletion and duplication carriers compared to control subjects at 4.5 years of age. These differences remain stable through childhood, adolescence and adulthood until 23 years of age (range: 0.5 to 1.0 Z-score). Voxel-based results are consistent with previous findings in 16p11.2 copy number variant carriers, including increased volume in the calcarine cortex and insula in deletions, compared to controls, with an inverse effect in duplication carriers (1.0 Z-score). All large effect-size voxel-based differences are present at 4.5 years and seem to remain stable until the age of 23. Our results highlight the stability of a neuroimaging endophenotype over 2 decades during which neurodevelopmental symptoms evolve at a rapid pace.

Objective To compare antegrade and retrograde cardioplegia administration in minimally invasive mitral valve surgery (MIMS) and open mitral valve surgery (OMS) for myocardial protection. Design Retrospective study. Setting Tertiary care university hospital. Participants The study comprised 118 patients undergoing MIMS and 118 patients undergoing OMS. Interventions The data of patients admitted for MIMS from 2006 to 2010 were reviewed. Patients undergoing isolated elective OMS from 2004 to 2006 were used as a control group. Cardioplegia in the MIMS group was delivered via the distal port of the endoaortic clamp and an endovascular coronary sinus catheter positioned using echographic and fluoroscopic guidance. Antegrade and retrograde cardioplegia were used in OMS. Data regarding myocardial infarction (MI) (creatine kinase [CK]-MB, troponin T, electrocardiography); myocardial function; and hemodynamic stability were collected. Measurements and Main Results There was no difference in the perioperative MI incidence between both groups (1 in each group, p = 0.96). No statistically significant difference was found for maximal CK-MB (35.9 µg/L [25.1-50.1] v 37.9 µg/L [28.6-50.9]; p = 0.31) or the number of patients with CK-MB levels >50 µg/L (29 v 33; p = 0.55) or CK-MB >100 µg/L (3 v 4; p = 0.70) between the OMS and MIMS groups. However, maximum troponin T levels in the MIMS group were significantly lower (0.47 µg/L [0.32-0.79] v 0.65 µg/L [0.45-0.94]; p = 0.0007). No difference in the incidence of difficult weaning from bypass and intra-aortic balloon pump use between the MIMS and OMS groups was found. Conclusions Antegrade and retrograde cardioplegia administration during MIMS and OMS provided comparable myocardial protection.

Objectives Rheumatic heart disease is endemic in sub-Saharan Africa. There is a paucity of data on the outcomes of valvular surgery for rheumatic heart disease in the developing world. The objective of this study was to evaluate the outcomes of aortic and mitral valve surgery for rheumatic heart disease in Ethiopia. Methods Between 2009 and 2017, 240 consecutive patients with rheumatic heart disease underwent aortic and/or mitral surgery at the Cardiac Center of Ethiopia in Addis Ababa. These surgeries were performed in the context of 22 international humanitarian missions. Median follow-up was 2.3 (interquartile range, 0.5-4.0) years and 96% complete. Outcomes were compared between patients who underwent mechanical valve implantation (n = 90, 38%), bioprosthetic valve implantation (n = 58, 24%), and valve repair (n = 92, 38%). Results Mean age of patients was 19 ± 8 years, and 136 patients (57%) were female. Operative mortality occurred in 5 patients (2.1%) and was not significantly different between the groups. Eleven additional patients (5%) died at follow-up, and 55 patients (23%) had at least 1 major adverse valve-related event. Propensity score–adjusted Cox regression analysis demonstrated higher rates of death in the bioprosthetic group compared with the mechanical group (hazard ratio, 8.82; 95% confidence interval, 1.64-47.39; P = .011). Survival was not significantly different between the repair and mechanical groups (hazard ratio, 1.09; 95% confidence interval, 0.17-7.16; P = .93). Likewise, rates of major adverse valve-related event were higher in the bioprosthetic group compared with the mechanical group (hazard ratio, 2.71; 995% confidence interval, 1.13-6.49; P = .025), but not significantly different between the repair and mechanical groups (hazard ratio, 1.98; 95% confidence interval, 0.89-4.39; P = .092). Conclusions Left-sided valve surgery for rheumatic heart disease in sub-Saharan Africa is associated with acceptable perioperative outcomes, but a high incidence of major adverse valve-related event at follow-up. The use of bioprosthetic valves is associated with poor outcomes in this patient population.

Epilepsy with myoclonic atonic seizure (EMAS) occurs in young children with previously normal to subnormal development. The outcome ranges from seizure freedom with preserved cognitive abilities to refractory epilepsy with intellectual disability (ID). Routine brain imaging typically shows no abnormalities. We aimed to compare the brain morphometry of EMAS patients with healthy subjects several years after epilepsy onset, and to correlate it to epilepsy severity and cognitive findings.Fourteen EMAS patients (4 females, 5-14 years) and 14 matched healthy controls were included. Patients were classified into three outcome groups (good, intermediate, poor) according to seizure control and cognitive and behavioral functioning. Individual anatomical data (T1-weighted sequence) were processed using the FreeSurfer pipeline. Cortical volume (CV), cortical thickness (CT), local gyrification index (LGI), and subcortical volumes were used for group-comparison and linear regression analyses.Morphometric comparison between EMAS patients and healthy controls revealed that patients have 1) reduced CV in frontal, temporal and parietal lobes (p = .001; 0.009 and 0.024 respectively); 2) reduced CT and LGI in frontal lobes (p = 0.036 and 0.032 respectively); and 3) a neat cerebellar volume reduction (p = 0.011). Neither the number of anti-seizure medication nor the duration of epilepsy was related to cerebellar volume (both p 0.62). Poor outcome group was associated with lower LGI. Patients in good and intermediate outcome groups had a comparable LGI to their matched healthy controls (p 0.27 for all lobes).Structural brain differences were detectable in our sample of children with EMAS, mainly located in the frontal lobes and cerebellum. These findings are similar to those found in patients with genetic/idiopathic generalized epilepsies. Outcome groups correlated best with LGI. Whether these anatomical changes reflect genetically determined abnormal neuronal networks or a consequence of sustained epilepsy remains to be solved with prospective longitudinal studies.

The primary objective of this study was to define the ultrasound-derived anatomy of the axillary/subclavian vessels. As a secondary objective, we evaluated the relationship between the vascular anatomy and demographic, anthropometric, and hemodynamic data of patients. This observational anatomical study used bedside ultrasound with 150 cardiac surgical patients in the operating room. Bilateral axillary and subclavian anatomy was determined using a high-frequency ultrasound probe with fixed reference points. Images were recorded and analyzed, and correlation with demographic, anthropometric, and hemodynamic data was performed. The images were adequate to evaluate potential anatomical variations in 97.4% of patients with a body mass index as high as 46.4 kg·m−2. The mean (standard deviation) diameter of the axillary vein was 1.2 (0.3) cm on the right side and 1.1 (0.2) cm on the left side. The dimensions of the axillary vein were larger on the right side in 69% of patients. The vein was located directly over the artery in the mid-clavicular view in 67% of the patients and in lateral-clavicular view in only 7% of the patients. As we moved the probe laterally, the vein was lateralized in relation to the artery in 89% of patients. There was no significant correlation between the hemodynamic data and vessel size, although direct correlation was found between body mass index and the depth of the vessel (P

The incidence of postoperative nonischemic seizures associated with the use of tranexamic acid (TXA) and the possibility of prevention with a low-dose regimen of TXA were evaluated.Retrospective study.Tertiary care university hospital.A total of 12,195 patients who underwent cardiac surgical procedures under cardiopulmonary bypass (CPB) were evaluated.The files of every clinical seizure case diagnosed in the surgical intensive care unit between April 2006 and April 2014 were reviewed. Patients who experienced a postoperative seizure underwent a cerebral computed tomography scan to exclude an ischemic lesion. Dosage and type of antifibrinolytic used and surgery characteristics were retrieved from perfusion files. Low-dose TXA was defined as 1,000-mg bolus, 400-mg/h infusion, and 500 mg in CPB priming. High-dose TXA was defined as 30-mg/kg bolus, 15 mg/kg/h, and 2 mg/kg in CPB priming.No seizure was observed in the 886 patients who did not receive antifibrinolytics. A total of 98 clinical seizures (0.8%) were recorded in the intensive care unit, and ischemic cause was excluded in the majority of them after computed tomography scan results were reviewed (91 patients [93%]). Low-dose TXA was associated with fewer seizures than was high-dose TXA (46 of 7,452 cases [0.70%] v 34 of 2,190 cases [1.55%], respectively; p0.0001). Open-chamber cardiac surgery also was linked to a higher incidence of seizures compared with revascularization (80 of 6,662 [1.20%] and 11 of 5,533 [0.20%], respectively; p0.0001).Lower doses of TXA were associated with a lower incidence of nonischemic seizures compared with higher doses of the drug.

We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were heterozygous for two KDM5B variants predicting p (Ala635Thr) and p (Ser1155AlafsTer4) that were shown to be in trans. KDM5B variants have been previously associated with moderate to severe developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and dysmorphism in a few individuals, but the pathogenetic mechanisms are not clear yet as patients with both monoallelic and biallelic variants have been observed. Interestingly, one individual has previously been reported with ACC and severe ID in association with biallelic KDM5B variants. Together with the observations in this family, this suggests that agenesis of the corpus callosum may be part of the phenotypic spectrum associated with KDM5B variants and that the KDM5B gene should be included in gene panels to clarify the etiology of ACC both in the prenatal and postnatal setting.

A significant proportion of children with seizures present with status epilepticus (SE), early in their disease. Our objective was to evaluate whether SCN1A variants predispose children to SE, outside of Dravet's syndrome. SCN1A analyses were performed in children aged 1 month to 16 years with at least one episode of status epilepticus (group A), and in children with short seizures only (group B). Clinical and genetic findings were compared between both groups. Total 99 children were included: 61 in group A, 38 in group B. SCN1A variants were found in 2 (3.3%) of 61 patients with status epilepticus and in 3 (7.9%) of 38 patients with short seizures. The difference between both groups was −4.6% (95% CI −18 to 5.1), and was not statistically significant ( p = 0.37, Fisher's exact test). In four of these five children, seizures were observed in a GEFS+ familial context. The last patient had a generalized genetic epilepsy not further determined. SCN1A variants were not significantly more frequent in group A than in group B. Their predicted severity was not higher. Our results indicate that SCN1A variants per se do not determine seizure duration in children not affected by Dravet's syndrome.

Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not show a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases.

Midazolam is commonly used to treat refractory seizures in newborns and as a first-line anti-epileptic drug in children. Its use as first-line treatment of neonatal seizures has not been investigated so far. We retrospectively studied the tolerability of midazolam in 72 newborn infants who received i.v. or i.n. midazolam as first-line treatment for seizures. No major side-effect exclusively due to midazolam was reported. The i.n. route was used for 20 patients (27.8%). Effectiveness could not be formally evaluated due to the absence of systematic electroencephalogram recording while midazolam was administered. In conclusion, midazolam was well-tolerated as a first-line abortive emergency treatment of neonatal seizure. The i.n. route offers a useful alternative to i.v. phenobarbital or phenytoin in emergency settings.

In vivo protamine titration (IVPT) is based on the observation of a plateau on the decay curve of the celite activated clotting times (ACTs) during protamine infusion for heparin reversal. The aim of the present study was to determine the optimal protamine/heparin ratio to reverse anticoagulation using IVPT curves.Prospective, randomized study.Tertiary care university hospital.The study comprised 138 patients undergoing elective cardiac surgery requiring cardiopulmonary bypass.The control group was given a protamine infusion of 1.3 mg per 1 mg (100 U) of heparin over 21 minutes. ACT was measured every 3 minutes. In the test group, the protamine dose was prepared using the same ratio as for the control group, and ACT values were measured every 3 minutes until a plateau was reached (2 consecutive ACT values160 s), at which time the protamine infusion was stopped. The protamine/heparin ratio, blood losses, transfusions, and heparin concentrations were recorded.The protamine dose was lower in the test group (456.00 ± 105.66 mg [control group] v 295.25 ± 100.60 mg [test group]; p0.0001). The mean protamine/heparin ratios were 1.30 ± 0.10 (control group) and 0.81 ± 0.22 (test group) (p0.0001). Heparin concentrations were greater in the test group 15 minutes (0.10 [0-0.2] U/mL v 0 [0-0.1] U/mL; p = 0.0001) and 3 hours (0 [0-0.1] U/mL v 0 [0-0] U/mL; p = 0.0002) after protamine infusion. There was no difference in the blood losses and transfusion requirements.IVPT is safe and efficient in this low-risk population.

Background The aetiology of perinatal arterial ischemic stroke remains speculative. It is however widely accepted that the aetiology is multifactorial, involving various maternal, placental, foetal and neonatal risk factors. A resulting thromboembolic process is hypothesized and the placenta identified as the most plausible source. An arteriopathy, as observed in a significant proportion of childhood ischemic stroke, is thought to be rare. Methods We report here five cases of perinatal stroke that differ from the vast majority by documented carotid occlusion, and add eleven other similar cases from the literature. Results In the majority, an intraluminal thrombus of placental origin is the most probable hypothesis, while in the remaining ones, one can reasonably presume a direct vessel wall injury related to a traumatic delivery, yet generally unproven by imaging. Conclusion We hypothesize that most of these cases share similar pathophysiology with the more common perinatal arterial ischemic stroke but differ by a persistent identified thrombus in the carotid artery at the time of first imaging, leading to a more severe and extended ischemic damage responsible for an adverse neurological outcome.

Background Assessing fluid responsiveness is important in the management of patients with hemodynamic instability. Passive leg raising (PLR) is a validated dynamic method to induce a transient increase in cardiac preload and predict fluid responsiveness. Variations in end-tidal carbon dioxide (ETCO2) obtained by capnography correlate closely with variations in cardiac output when alveolar ventilation and carbon dioxide production are kept constant. In this prospective observational study, we tested the hypothesis that variations in ETCO2 induced by a simplified PLR maneuver can track changes in the cardiac index (CI) and thus predict fluid responsiveness.

Objective The standard approach in treating cardiac myxoma is the median full sternotomy. After recent advances in surgical techniques, the mini right anterior thoracotomy has emerged as an alternative method. Methods We performed a retrospective study to compare the clinical outcomes of the mini right anterior thoracotomy approach with those of the sternotomy approach for resection of cardiac myxoma at the Montreal Heart Institute. There were 20 patients treated using a mini right anterior thoracotomy (4–5 cm) and 23 patients were treated using a median sternotomy. Results No early mortalities were found in either group. Although the cardiopulmonary bypass time and aorta cross-clamp time were not significantly different between the two groups (64.3 mn ± 18 and 37.2 mn ± 15 vs 54.3 mn ± 25 and 37.20 mn ± 2), preoperative blood loss (106 mn ± 95 vs 338 mn ± 270) was significantly less in the mini right anterior thoracotomy group. The intensive care unit and hospital stay (1.65 days ± 1.2 and 5.70 days ± 3) were shorter with the mini right anterior thoracotomy approach. Conclusions A minimally invasive surgery through mini right anterior thoracotomy is a good alternative technique for treating cardiac myxoma. Despite the small size of the experience, there is a clear diminution in preoperative blood loss and an interesting trend toward a shorter intensive care unit and hospital stay.

BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure.METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV.RESULTS: Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < -1), and the caudate and hippocampus (control > duplication; -0.5 > Cohen's d > -1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results.CONCLUSIONS: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings partially overlap with results of meta-analyses performed across psychiatric disorders. However, the lack of correlation between morphometric and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria.

Objective To compare myocardial protection with retrograde cardioplegia alone with antegrade and retrograde cardioplegia in minimally invasive mitral valve surgery (MIMS). Design Retrospective study. Setting Tertiary care university hospital. Participants The authors studied 97 MIMS patients using retrograde cardioplegia alone and 118 MIMS patients using antegrade and retrograde cardioplegia. Interventions The data from patients admitted for MIMS using retrograde cardioplegia (MIMS retro) between 2009 to 2012 were compared with the data from patients undergoing MIMS with antegrade and retrograde cardioplegia (MIMS ante-retro) between 2006 and 2010 (control group). Cardioplegia in the MIMS retro group was delivered solely through an endovascular coronary sinus (CS) catheter positioned under echographic and fluoroscopic guidance. Antegrade and retrograde cardioplegia was used in the MIMS ante-retro group. Data regarding myocardial infarction (MI; creatine kinase Mb, troponin T, electrocardiogram), myocardial function, and hemodynamic stability were collected for comparison. Measurements and Main Results Adequate cardioplegia administration (CS pressure >30 mmHg and asystole) was attained in 74.2% of the patients with retrograde cardioplegia alone. In 23.7% of the patients, the addition of an antegrade cardioplegia was necessary. No difference was observed in the incidence of MI (0 MIMS retro v 1 for MIMS ante-retro, p = 0.3623), difficult separation from cardiopulmonary bypass, and postoperative malignant arrhythmia. No difference was found for maximal creatine kinase Mb (39.1 [28.0-49.1] v 37.9 [28.6-50.9]; p = 0.8299) and for maximal troponin T levels (0.39 [0.27-0.70] v 0.47 [0.32-0.79]; p = 0.1231) for MIMS retro and MIMS ante-retro, respectively. However, lactate levels in the MIMS retro group were significantly lower than in the MIMS ante-retro group (2.1 [1.4-3.05] v 2.4 [1.8-3.3], respectively; p = 0.0453). No difference was observed in duration of intensive care unit stay and death. MIMS retro patients had a shorter hospital stay (7.0 [6.0-8.0] v 8.0 [7.0-9.0] days; p = 0.0003). Conclusion Retrograde cardioplegia administration alone provided comparable myocardial protection to antegrade and retrograde cardioplegia during MIMS, but was not sufficient to achieve asystole in one-fifth of patients.

The International League Against Epilepsy published a new classification of epileptic seizures and epilepsies. It is more transparent and important notions like etiologies and comorbities have been added. The identification of seizures, epilepsies then epilepsy syndromes constitutes the three steps of this classification.En 2017, la Ligue internationale contre l’épilepsie a publié une nouvelle classification des crises épileptiques et des épilepsies. Elle est devenue plus accessible et des notions comme les étiologies et les comorbidités ont été introduites.

Refractory frontal lobe epilepsy has been traditionally treated through a frontal lobectomy. A disconnective technique may allow similar seizure outcomes while avoiding the complications associated with large brain resections. The aim of this study was to describe a new technique of selective disconnection of the frontal lobe that can be performed in cases of refractory epilepsy due to epileptogenic foci involving 1 frontal lobe (anterior to the motor cortex), with preservation of motor function. In addition to the description of the technique, an illustrative case is also presented.This disconnective procedure is divided into 4 steps: the suprainsular window, the anterior callosotomy, the intrafrontal disconnection, and the frontobasal disconnection. The functional neuroanatomy is analyzed in detail for each step of the surgery. It is important to perform cortical and subcortical electrophysiological mapping to guide this disconnective procedure and identify eloquent cortices and intact neural pathways.The authors describe the case of a 9-year-old boy who presented with refractory epilepsy due to epileptogenic foci localized to the right frontal lobe. MRI confirmed the presence of a focal cortical dysplasia of the right frontal lobe. A periinsular anterior quadrant disconnection (quadrantotomy) was performed. The postoperative period was uneventful, and the patient was in Engel seizure outcome Class I at the 3-year follow-up. A significant cognitive gain was observed during follow-up.Periinsular anterior quadrantotomy may thus represent a safe technique to efficiently treat refractory epilepsy when epileptogenic foci are localized to 1 frontal lobe while preserving residual motor functions.

Background Minimally invasive mitral valve surgery (MIMVS) is an established alternative to median sternotomy for mitral valve repair. However, this technique has yet to gain widespread adoption, partly because of concerns that this approach might yield lower repair rates or repairs that are less durable than those performed through a sternotomy. The purpose of this study was to report our inaugural experience with MIMVS, with a focus on mitral valve repair rate and midterm outcomes. Methods Between May 2006 and April 2012, minimally invasive mitral valve repair was attempted in 200 consecutive patients with degenerative mitral disease. The approach used was a 4- to 5-cm right anterolateral minithoracotomy with femorofemoral cannulation for cardiopulmonary bypass. Mean follow-up was 2.9 ± 1.8 years, and follow-up was 99% complete. Results The mitral valve was successfully repaired in all but 2 patients, yielding a repair rate of 99%. Hospital mortality occurred in 2 patients (1%). Intraoperative conversion to sternotomy was necessary in 12 patients (6%), including 1 of the 2 unsuccessful repairs. Mean cardiopulmonary bypass and aortic cross-clamp times were 130.8 ± 41.3 minutes and 104.8 ± 35.6 minutes, respectively. Median hospital stay was 5 days. The 5-year survival and freedom from reoperation were 97.9% ± 1.5% and 98.1% ± 1.3%, respectively. Conclusions A very high repair rate can be achieved using MIMVS for the treatment of degenerative mitral regurgitation, including during the learning phase. Midterm survival and freedom from valve-related reoperation are excellent. MIMVS is a safe and effective alternative to mitral valve repair through a sternotomy.

Objective Minimally invasive mitral valve surgery using peripheral cannulation for cardiopulmonary bypass (CBP) is increasingly prevalent. Although conceptually straightforward, peripheral CBP involves challenges and risks specific to this method of perfusion. The utility of preoperative vascular imaging in predicting these technical challenges and preventing vascular complications was studied. Methods We performed a retrospective analysis of 73 consecutive patients undergoing minimally invasive mitral valve surgery using femorofemoral CBP with intraluminal aortic occlusion balloon catheter. All patients underwent preoperative computed tomography angiogram or magnetic resonance angiography to study the iliofemoral axes. Results None of the patients operated with this technique was found to have arterial stenoses. Patients with a femoral artery diameter of less than 7.3 mm needed bilateral or side-graft arterial cannulation significantly more frequently than patients with larger femoral arteries (46.2% vs 9.1%, P = 0.001). There was a trend toward more frequent modification of arterial cannulation strategy in patients with body surface area less than 1.7 m2 compared with larger patients (body surface area, 1.7–2.0) (26.3% vs 8.3%, P = 0.07). Patients needing high CBP flow rate (>5 L/min) were no more likely to need dual arterial cannulation (18.2% vs 19.1%, P = 0.68). No patient experienced a vascular complication. Conclusions This preliminary study suggests that preoperative vascular imaging and patient evaluation may predict difficulties with femoral cannulation and perfusion, which can lead to better preoperative planning and potentially prevent vascular complications. Further data will be accumulated and analyzed to confirm these findings.

Perioperative care for cardiac surgery is undergoing rapid evolution. Many of the changes involve the application of novel technologies to tackle common challenges in optimizing perioperative management. Herein, we illustrate recent advances in perioperative management by focusing on a number of novel components that we judge to be particularly important. These include: the introduction of brain and somatic oximetry; transesophageal echocardiographic hemodynamic monitoring and bedside focused ultrasound; ultrasound-guided vascular access; point-of-care coagulation surveillance; right ventricular pressure monitoring; novel inhaled treatment for right ventricular failure; new approaches for postoperative pain management; novel approaches in specialized care procedures to ensure quality control; and specific approaches to optimize the management for postoperative cardiac arrest. Herein, we discuss the reasons that each of these components are particularly important in improving perioperative care, describe how they can be addressed, and their impact in the care of patients who undergo cardiac surgery.

Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The Abnormal SPindle-like Microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities. This article is protected by copyright. All rights reserved. ispartof: Human Mutation vol:39 issue:3 pages:319-332 ispartof: location:United States status: published

Prenatal disruptive injuries within one or both cerebellar hemispheres, which are mostly caused by hemorrhages, are well known. Primary disruptive lesions of the brainstem, however, are exceptional. Here we report on clinical and neuroimaging findings, as well as outcome of four male infants with prenatal brainstem disruptions that have been seen between 2005 and 2015. Two infants with extensive brainstem defects (from the midbrain to the medulla) had respiratory insufficiency and died at the age of 12 weeks and 22 months, respectively. Two patients had smaller, unilateral/asymmetrical lesions in the pontomesencephalic and medullary regions, respectively, and presented with permanent multiple cranial nerve deficits and long-tract signs. Recognition of prenatal brainstem disruptions and distinction from malformations are essential for the management and the estimation of a recurrence risk.

Several methods of aortic clamping have been described for minimally invasive mitral valve surgery (MIMVS). The aim of this study was to compare the endoaortic balloon occlusion technique with the transthoracic clamp approach in terms of perioperative outcomes.Between May 2006 and October 2011, a total of 259 patients underwent MIMVS through a 4 to 5 cm right anterolateral minithoracotomy. In 243 (93.8%) of these, the aorta was clamped using either the endoaortic balloon occlusion technique (endoballoon, n = 140) or the transthoracic clamp technique (transthoracic, n = 103).Patients in the endoballoon group had significantly longer operating time (4.3 ± 1.0 hours vs 3.2 ± 0.8 hours, p0.001), cardiopulmonary bypass time (143 ± 44 minutes vs 111 ± 29 minutes , p0.001), and cross-clamp time (114 ± 38 minutes vs 86 ± 23 minutes , p0.001). Perioperative blood loss was higher in the endoballoon group (287 ± 239 mL vs 213 ± 189 mL, p = 0.008) as was the mean postoperative creatinine kinase-MB level (36 ± 44 μg/L vs 26 ± 12 μg/L, p = 0.011). The repair rate was 99% or greater in both groups (p = 0.99). All patients left the operating room with no or trivial residual mitral regurgitation on transesophageal echocardiographic evaluation. In the endoballoon group there was 1 stroke (1%) and 5 myocardial infarctions (4%), compared with 2 strokes (2%) in the transthoracic group (p = not significant). There were 4 cases of postoperative cardiogenic shock, all of which occurred in the endoballoon group (p = 0.14). In-hospital mortality occurred in 2 patients from each group (p = 0.99).Minimally invasive mitral valve surgery can be performed successfully using either the endoaortic balloon technique or the transthoracic clamp approach. However, the transthoracic technique results in shorter operation time, less perioperative bleeding and better myocardial protection.

Objectives To measure the incidence of cerebral desaturation during high-risk cardiac surgery and to evaluate strategies to reverse cerebral desaturation. Design Prospective observational study followed by a randomized controlled study with 1 intervention group and 1 control group. Setting Tertiary care center specialized in cardiac surgery. Participants All patients were scheduled for high-risk cardiac surgery, 279 consecutive patients in the prospective study and 48 patients in the randomized study. Interventions An algorithmic approach of strategies to reverse cerebral desaturation. In the control group, no attempts were made to reverse cerebral desaturation. Measurements and Main Results Cerebral saturation was measured using near-infrared reflectance spectroscopy. A decrease of 20% from baseline for 15 seconds defined cerebral desaturation. The success or failure of the interventions was noted. Demographic data were collected. Models for predicting the probability and the reversal of cerebral desaturation were based on multiple logistic regressions. In the randomized study, 12 hours of measurements were continued in the intensive care unit without interventions. Differences in desaturation load (% desaturation×time) were compared between groups. Half of the high-risk patients had cerebral desaturation that could be reversed 88% of the time. Interventions resulted in smaller desaturation loads in the operating room and in the intensive care unit. Conclusions Cerebral desaturation in high-risk cardiac surgery is frequent but can be reversed most of the time resulting in a smaller desaturation load. A large randomized study will be needed to measure the impact of reversing cerebral desaturation on patient's outcome.