Cardiological Examination Research Articles

A novel standard protocol of long-term follow-up shared with general practitioners after percutaneous coronary intervention: appropriateness and economic impact

Follow-up modalities for patients undergoing percutaneous coronary intervention (PCI) are not well defined and standard protocols have been not established. The purpose of this study was to assess: a) the frequency and patterns of cardiology visits, echocardiographic examinations and stress tests after PCI in clinical practice; b) the impact of a multidisciplinary protocol of long-term follow-up after PCI shared with general practitioners on the appropriateness and reduction in healthcare costs. A total of 780 patients who underwent PCI in 2010 in two Italian hospitals were analyzed. The number of cardiological examinations (total, routine and clinically driven) performed during 2 years of follow-up were recorded and stratified according to the patient's risk profile. The latter was defined according to the multidisciplinary protocol. In addition, a simulation of the spread between provided and necessary tests (according to the multidisciplinary protocol) was carried out. The mean number of cardiological examinations per patient provided during follow-up was 5, of which 4.4 were routine tests in asymptomatic patients. Routine tests were performed more frequently in patients at low risk compared to those at higher risk. By applying the multidisciplinary protocol to the case mix and by merging clinical visit and stress test or echocardiographic examination, a reduction of 0.87 tests per patient/year would be expected. This reduction would result in a 39% decrease in follow-up examinations in this specific clinical setting. This observational study demonstrates that unnecessary cardiological clinical and functional tests are often performed in long-term follow-up of patients submitted to PCI. The application of a standard protocol of follow-up shared with general practitioners may help avoiding unnecessary consultations, thus reducing healthcare costs.

DETERMINATION OF THE ENHANCEMENT EFFECT AND DIAMETERS OF THE MAJOR ARTERIES OF AFRICAN GREY PARROTS USING A DUAL-HEAD POWER INJECTOR FOR COMPUTED TOMOGRAPHIC ANGIOGRAPHY

The aim of the present study was to establish a computed tomographic angiography protocol using a dual-head power injector as well as measure the attenuation values and diameters of the major arteries in African Grey parrots (Psittacus erithacus). A 16-slice computed tomography (CT) scanner was used to measure the region of interest (ROI) in six major arteries. Before scanning, each bird underwent physical, blood, and cardiological examinations and were considered healthy. Each bird was sedated under general anesthesia during the CT-angiography (CT-A) procedure. A dual-head power injector with a saline chaser technique was used to administer the contrast medium and saline flush. We used a real-time bolus-tracking method and triggered the scan manually once the peak enhancement of ascending aorta was reached. All measurements were made by two double-blinded clinicians. The reference ranges before and after contrast medium administration via the body, pulmonary, and bone windows were set up accordingly. Inter-observer consistency in measurements was high in post-contrast values via the body window. Hence, the present study concluded that it is feasible to use saline chaser with dual-head power injector upon performing CT-A in parrots and analyze the image in a body window. Also, an anesthetic protocol during CT-A was also proved to be practical. However, further studies are needed to improve the diagnostic potential and utility of CT-A in parrots.

SCAI core curriculum for adult and pediatric interventional fellowship training in continuous quality assessment and improvement.

Keywords: percutaneous coronary intervention; structural heart disease intervention; congential heart disease; adults; congenital heart disease; pediatrics

Development of Cerebral Infarction After Stripping of Vena Saphena Magna: Case Report

Cerebrovascular disease is the most frequent cause of neurological diseases. Embolic infarction is one of the most common causes of stroke. In the majority of patients with cerebral embolism, it is shown that emboli mostly originate from the heart via arterial circulation. Embolism rarely occurs as a paradoxical embolism through atrial / ventricular septal defect (ASD/VSD) or patent foramen ovale (PFO). In our clinical case, cerebral infarction is caused by ASD after vena saphena magna (VSM) stripping. Thirty- four- year- old female patient was admitted with motor and sensory loss at left lower extremity below the knee after stripping of VSM. Detailed neurological examination was done. She had left foot motor deficit, anesthesia of left lower extremity below the knee, impairment of motor strength (0/5 dorsiflexion and plantar flexion) of the left foot. After radiological investigation, diffusion weighted magnetic resonance imaging (MRI) revealed several, millimetric, nonspecific, nodular signal changes in some parts of bilateral periventricular, subcortical white matter of the brain that showing no diffusion limitation. In systematic examination, atrial septal defect was detected by echocardiography. Patient was treated with anticoagulant therapy. This case highlights detailed cardiological examination should be done in patients with cerebral infarction

Curious turns in the night-time

A 63-year-old Caucasian man reported 1 year of sleep disturbance. He described waking repeatedly from sleep with feeling light-headed upon sitting up. He would then gasp for air, move his...

Sleep-related modification of atrioventricular block: from first-degree to second-degree, Mobitz type II

A 46-year-old man was evaluated for alcohol dependence and abuse of cannabis and benzodiazepines. He reportedly consumed up to 20 units of alcohol per day, as well as clonazepam up to 3 mg per day for insomnia. The patient underwent ambulatory polysomnographic (A-PSG) examination on the same day of the visit. An electrocardiogram revealed a second-degree atrioventricular (AV) block, Mobitz type II, whichwas present continuously during all sleep stages, without modification from non-rapid eyemovement (NREM) to rapid eye movement (REM) sleep (Fig. 1). Conversely, during the awake period, a first-degree atrioventricular block was observed, whichwas confirmed by a diurnal 12-lead electrocardiogram (Fig. 2). A-PSG showed a sleep pattern characterized by a single sleep cycle (Fig. 3, hypnogram), absence of N3, and reduced REM sleep (17.4%; total sleep time = 233 minutes, sleep efficiency = 85%, sleep latency = 29 minutes, wake after sleep onset = 14 minutes). PSG showed no snoring, apnea, hypopnea, or other sleep-related breathing disorder. Toxicologic test results were negative for substances of abuse other than benzodiazepines, and blood ethanol was undetectable. Blood and urine test results were unremarkable. The patient did not complain of physical symptoms that would require cardiological examination, was not under any medical treatments, and did not take other drugs except benzodiazepines. 2. Image analysis

Russian Family with X-linked Alport Syndrome and Cardiovascular Abnormalities

Background: Alport syndrome (AS) is an inherited disease. Clinical findings usually include hematuria, proteinuria and arterial hypertension. Hearing loss and ocular abnormalities are common symptoms. In the last years there are some clinical observations of arterial disease (aortic aneurysm, aortic dissection) in males with AS. Methods: coding exons and splice sites of the abovementioned genes were sequenced in on Ion Torrent platform. Detailed clinical examination was obtained. Ophthalmologic and otologic evaluations, pure tone audiometry, electrocardiography, ECHO-cardiography, 24-hour blood pressure monitoring and retroperitoneal ultrasonography were performed. Results: a novel dominant missense mutation c.G3098A, p.1033 G>D in the collagen type IV alpha-5 gene (COL4A5) was revealed in five family members. New aspects of phenotype evaluated: cardiovascular abnormalities (asymptomatic aortic enlargement, left ventricular dilatation, aortic insufficiency); early childhood onset of systemic hypertension; absents of ocular abnormalities. Microhematuria, proteinuria (in progress up to 2,0 g/l) and early childhood onset of systemic hypertension are discussed as a result of heterozygous COL4A5 mutations in affected females. Conclusions: molecular genetics help to understand variable clinical phenotypes of AS patients. New findings about cardiovascular abnormalities should stimulate doctors to make cardiology examination in all affected subjects.

Neuromuscular comorbidity, heart failure, and atrial fibrillation as prognostic factors in left ventricular hypertrabeculation/noncompaction

There is some controversy concerning the prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT). LVHT is frequently associated with neuromuscular disorders (NMDs). The aim of this study was to assess cardiac and neurological findings as predictors of mortality in patients with LVHT. The study included patients with LVHT diagnosed between June 1995 and January 2014 in one echocardiographic laboratory. They underwent a baseline cardiologic examination and were invited for a neurological examination. Between January and February 2014, their survival status was assessed. LVHT was diagnosed in 220 patients (68 female, aged 52 ± 17years) with a prevalence of 0.35 %/year. During a follow-up of 72 ± 61months, 65 patients died. The mortality was 5 %/year. A neurological investigation was performed on 173 patients (79 %) and revealed specific NMDs in 31 (14 %), NMD of unknown etiology in 103 (47 %), and normal findings in 39 (18 %) patients. In multivariate analysis, the predictors of mortality were increased age (p = 0.0001), presence of a specific NMD (p = 0.0062) or NMD of unknown etiology (p = 0.0062), heart failure NYHA III (p = 0.0396), atrial fibrillation (p = 0.0022), and sinus tachycardia (p = 0.0395). LVHT patients should undergo systematic neurological examinations. Whether an optimal therapy of heart failure and atrial fibrillation will improve the prognosis of LVHT patients needs to be addressed in further studies.

320-row-detector CT angiography findings in a case with myocardial bridging in the three main coronary arteries.

A 46-year-old man with the complaining of palpitation was admitted to our hospital. Polymorphic ventricular early beats were observed on electro cardiography, The patient was referred to our department for coronary artery computed tomography angiography (CTA) for a probable congenital anomaly. On coronary CTA performed by a 320-Row-Detector scanner; left main coronary artery was short. The myocardial bridging (MB) causes approximately 75% luminal stenosis in a 2.5-cm segment was observed in the middle segment of left anterior descending artery (Fig. A, white arrow). The circumflex artery was continuing as the first obtus margin artery and this branch was separating to four branches in the middle part. All of these branches were coursing subepicardially in the middle and distal part (Fig. B, white arrowheads). The right main coronary artery was separating to two branches in the proximal part, and the thinner one was showing MB in its middle part (Fig. C, black arrow). This branch had a subepicardial course as well, in its distal part along the right atrium (Fig. C, black arrowheads). Eventually, all the cardiologic examinations and imaging findings were reevaluated. Based on those findings, antiarrhythmic drug therapy was prescribed by cardiology department, and the patient was called for regular follow-up.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

BackgroundAneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. ObjectivesThis study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis. MethodsWe combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography, and transthoracic echocardiography was performed. In adults, imaging of the entire aorta using computed tomography or magnetic resonance imaging was done. ResultsHere, we report on 43 patients from 11 families with syndromic presentations of aortic aneurysms caused by TGFB3 mutations. We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity. In line with previous observations in aortic wall tissues of patients with mutations in effectors of TGF-β signaling (TGFBR1/2, SMAD3, and TGFB2), we confirm a paradoxical up-regulation of both canonical and noncanonical TGF-β signaling in association with up-regulation of the expression of TGF-β ligands. ConclusionsOur findings emphasize the broad clinical variability associated with TGFB3 mutations and highlight the importance of early recognition of the disease because of high cardiovascular risk.

Cardiac factors affecting the success of vardenafil in erectile dysfunction.

To evaluate the predictability of vardenafil success in patients with erectile dysfunction (ED) by using cardiological tests. Patients diagnosed with ED who did not benefit from lifestyle changes (n = 68) were evaluated with an abridged 5-item version of the International Index of Erectile Function (IIEF-5). The pretreatment and posttreatment IIEF-5 scores were compared with pretreatment data obtained from cardiological examinations. When pretreatment scores were compared with test parameters, mitral flow E/A ratio and tissue Doppler imaging (TDI) E'/ A', exercise test duration, exercise capacity in MET, and percentage of maximum heart rate were found to be statistically significant. Furthermore, there was a significant negative correlation between mitral flow E/A ratio, TDI E'/A', exercise test duration, exercise capacity in MET, and the difference in post- and pretreatment IIEF-5 scores. As a diastolic function indicator, TDI E'/A' positively correlates with pretreatment IIEF-5 scores and negatively correlates with the beneficial effect of vardenafil treatment. As a result, the cardiological status of the patient correlates with individual IIEF-5 scores, and it seems to be useful in predicting vardenafil success.

Amniotic band syndrome: Case report

Amniotic band syndrome (ABS) is a group of rare congenital abnormalities caused by wrapping of parts of the foetus by fibrous amniotic bands during intrauterine life. Objective: To emphasise the importance of a timely diagnostic and therapeutic approach to the patient. Materials and Methods: We used medical records of a hospitalized newborn at the Clinic for Children's Internal Diseases Nis. We applied a descriptive method. Case report: A male newborn, delivered in the 33rd week of gestation, APGAR SCORE 7/8, birth weight 1550g, birth length 43 cm, one day old. The newborn child was transferred from the Gynaecological Clinic Nis to the Clinic for Children's Internal Diseases Nis. The child had suspected infection, respiratory distress syndrome and congenital malformations of limbs with either lacking or deformed hand phalanges. The baby was born by Caesarean section because of the umbilical cord prolapse. The newborn started breeding following a short reanimation. Prenatal ultrasound proved no abnormalities of the foetus. At admission, the newborn had normal physiological findings except for conductivities in both eyes, a lack of some hand phalanges and weaker primitive reflex response. Radiological findings of the hands indicated the absence or reduced size of the individual phalanges, deformities of the head and diaphysis of some hand phalanges of both hands, as well as the presence of soft tissue shadow in the region of the distal phalange of the third finger of the left hand. A paediatric surgeon confirmed the presence of Amniotic band syndrome after physical examination and radiological findings. Cytogenetic study found a normal male karyotype. The presence of abnormalities of other organ systems was excluded with cardiology, nephrology and neonatal examination. Conclusion: We need to think about the Amniotic band syndrome when the infant has visible congenital abnormalities. Ultrasound prenatal diagnosis is very important, but not always sufficiently sensitive in detecting small abnormalities. A multidisciplinary approach is also important in both diagnosis and treatment, depending on the clinical picture.

Clinical and Molecular Study on Duchenne Muscular Dystrophy

Background: Duchenne Dystrophy is the most common and severe form of muscular dystrophy. It has an X chromosome-linked recessive inheritance and affects boys’ striated muscles and myocardium. It is caused by mutations in the dystrophin gene, the largest human gene, composed of 79 exons. Objectives: To check the early cardiac changes in pediatric patients with Duchenne muscular dystrophy (DMD) and carry out the molecular study of changes in the dystrophin gene. Methods: Prospective study involving pediatric patients with DMD, with clinical assessment, measurement of serum levels of creatine phosphokinase, electrocardiogram, Doppler echocardiography and dynamic electrocardiography and DNA genotyping, with amplification of the 18 most affected exons. Results: A group of 11 boys aged 6-14 years was studied. Clinical cardiological examination did not reveal any major changes. An increase in creatinine phosphokinase was detected in all patients. Electrocardiogram showed early changes, with high R waves in V1 (n=7) right bundle branch block (n=2), delta waves and short PR interval (n=1), and signs of disturbance of ventricular repolarization (n=1). Echocardiogram showed signs of systolic dysfunction. Dynamic electrocardiogram (Holter) showed changes in 4 patients: with many extrasystoles (n=3) and Wolff-Parkinson-White syndrome (n=1). All children received corticosteroid therapy. There was no significant correlation between exon 52 deletion and arrhythmias (p=0.43). The molecular study revealed an exon 52 deletion in 4 patients with dilated cardiomyopathy, of which 2 had concomitant deletion of exons 1 and 50, respectively. Other 7 patients had deletions of exons 48, 51, 52 and 57. Conclusions: Electrocardiogram showed the first changes in pediatric patients with DMD. In cases with dilated cardiomyopathy and arrhythmia, the deletion of exon 52 was detected.

Use of exercise tests in primary care: importance for referral decisions and possible bias in the decision process; a prospective observational study.

BackgroundThe utility of clinical exercise tests depends on their support of treatment decisions. We sought to assess the utility of exercise tests for the selection of primary-care patients for referral to cardiologic care, and to determine whether referral decisions were biased by gender or socioeconomic status. We also evaluated referral rates and cardiovascular events in patients with positive exercise tests.MethodsWe designed a prospective observational study of 438 men and 427 women from 28 Swedish primary-care clinics who were examined with exercise testing for suspected coronary disease. All participants were followed-up with respect to cardiologist referrals and cardiovascular events (hospitalisation for unstable angina, myocardial infarction, and cardiovascular death) within six months and revascularisation within 250 days. Variables associated with referral were identified by multivariable logistic regression. Socioeconomic status was determined by educational level and employment.ResultsPositive/inconclusive exercise tests and exertional chest pain predicted referral in men and women. Of 865 participants, patients with positive, inconclusive, or negative exercise tests were referred to cardiologists in 67.3%, 26.1%, and 3.5% of cases, respectively. Overall, there was no significant difference in referral rates related to gender or socioeconomic level. Self-employed women were referred more frequently compared to other women (odds ratio (OR) 3.62, 95% confidence interval (CI) 1.19-10.99). Among non-manual employees, women were referred to cardiologic examination less frequently than men (OR 0.40, 95% CI 0.16-1.00; p = 0.049; ORs adjusted for age, exertional chest pain, and exercise test result). In patients with positive exercise tests, the referral rate decreased continuously with age (OR 0.48, 95% CI 0.23-0.97; adjusted for cardiovascular co-morbidity). Cardiovascular events occurred in 22.2% (4/18) of non-referred patients with positive exercise tests; 56% (10/18) of these patients were not considered for cardiologic care, with continuity problems in primary care as one possible contributing cause.ConclusionsExercise tests are important for selecting patients for referral to cardiologic care. Interactions related to gender and socioeconomic status affected referral rates. In patients with positive exercise tests, referral rates decreased with age. An increased awareness of possible bias regarding age, gender, and socioeconomic status, which may influence medical decisions, is therefore necessary.Electronic supplementary materialThe online version of this article (doi:10.1186/s12875-014-0182-9) contains supplementary material, which is available to authorized users.

Polymorphic alele variants of eNOS gene in patients with disorders of cardiac conduction

We studied the role of endothelial nitric oxide synthase gene polymorphism 4a/4b in development of such disturbances of cardiac conduction as atrioventricular (AV) block and sick sinus node syndrome (SSNS). We examined 69 subjects (36 men, 33 women) with AV block and 90 subjects (33 men and 57 women) with SSNS. They were divided into groups in dependence on type of conduction disorder and sex. Probands with pathologies studied composed separate groups. All participants underwent included clinical-instrumental cardiological examination and molecular genetic study of eNOS gene polymorphisms. In all groups we revealed significant predominance of a rare homozygous genotype 4b/4b and tendency to decreased number of carriers of widely spread 4a/4a allele.

G.P.180: Evaluation of cardiologic status in carriers of Duchenne Muscular Dystrophy

With an incidence of 1:5000 male newborns, Duchenne muscular Dystrophy (DMD) is the most common hereditary muscular disorder. Cardiac involvement (e.g. dilated cardiomyopathy) is well known in DMD patients. Since described as an X-linked recessive disorder, women can be identified as carriers for DMD. Our objective was to characterize cardiac findings in a defined group of genetically confirmed DMD carriers. Monocentric, prospective, non-randomized, cross-sectional study, <i>n</i>=16 aged 15–54years. The women had a physical examination for anthropometric data (BP, BMI, etc.) and MRC testing for muscular strength. Cardiologic examination included NYHA classification, 6MWT, 12 lead ECG, Holter ECG, echocardiography and cardiac MRI (function, late gadolinium enhancement (LGE)). Results: 8/10 women showed walking distances below average in 6MWT despite NYHA Class I in all cases and 5/5 points in MRC testing. 12/16 women showed negative ST-segments in right precordial leads, polymorphic premature supra-/ ventricular beats (12 lead and Holter ECG). Echocardiography was suspicious in 18, 8% with reduced shortening fraction or regurgitation in mitral/tricuspid valve. Cardiac MRI showed LGE in 56%, 73% had normalized LV endsystolic volume above average, 20% LV enddiastolic volume below average, and reduced EF in 33%. The left ventricular mass was reduced in all women. <i>Conclusion</i>: Despite the lack of clinical problems and only minor abnormal findings in physical evaluation, all DMD carriers show pathologies in either ECG, echo or cardiac MRI (or all of the above). Findings need further evaluation and are not related to age; therefore we suggest cardiac exams (incl.cardiac MRI+LGE) once per year starting at the time of positive molecular analysis for DMD carrier status. Establishing a register for DMD carriers should be the next step towards further assessment of data and better maintenance or prospects for therapy.

Abstract 562: Association Of The Heteroplasmic Level Of The Mitochondrial Gene Nd2 5178c&gt;A Variant With Essential Hypertension

BACKGROUND: The mitochondrial genetic variant of nicotinamide adenine dinucleotide dehydrogenase subunit-2 (ND2) 5178C&gt;A (Leu237Met) was previously found to have a protective effect against essential hypertension (EH) in Chinese and Japanese populations. AIM: The present study aimed to determine whether the protective effect of ND2 5178C&gt;A against EH is associated with the mitochondrial heteroplasmy level of the variant. METHODS: This case-control study involved 109 unrelated Chinese-Han matched pairs of essential hypertension and healthy normotensive controls. All consented subjects were recruited consecutively from Institute of Geriatric Cardiology and Health Examination Center in General Hospital of Chinese People’s Liberation Army from February 2013 to January 2014. Demographic and clinical characteristics were recorded. Mitochondrial DNA was isolated from the blood leukocytes for each subject. The level of heteroplasmy for 5178C&gt;A variant occurring in the coding region of ND2 was quantified using real-time polymerase chain reaction (PCR) method. RESULTS: The ND2 5178C&gt;A heteroplasmy level ranged between 27% and 77%, with a median level of 44%. Between the upper and lower quartiles of 5178C&gt;A heteroplasmy distribution, significant differences were observed for systolic blood pressure (116±17 vs. 129±25 mmHg, P=0.004) , body mass index (BMI) (24.6±3.3 vs.26.5±3.6, P=0.008) , total cholesterol (4.0±0.8 vs. 3.4±0.9 mmol/L, P&lt;0.001) , low density lipoprotein (2.5±0.7 vs. 1.5±0.7 mmol/L, P&lt;0.001) and triglyceride levels (1.8±1.6 vs. 4.0±1.6 mmol/L, P&lt;0.001). ND2 5178C&gt;A heteroplasmic level was negatively correlated with the presence of hypertension (r = -0.38, P &lt; 0.001), BMI (r = -0.19, P = 0.007), and the level of total cholesterol (r = -0.18, P = 0.01). Logistic regression analysis showed that participants with higher ND2 5178C&gt;A heteroplasmy level (≥44%) were found to have significantly lower prevalence of essential hypertension (29%, 32 in 109), as compared to those with lower (&lt; 44%) ND2 5178C&gt;A heteroplasmy level (71%, 77 in 109) (OR: 0.18, 95% CI: 0.10-0.31, P&lt;0.001). CONCLUSION: The protective effect of mitochondrial ND2 5178C&gt;A against EH is associated with the heteroplasmy level of the variant.

Striking Pathology in Leigh Syndrome Associated With the MTATP6 T8993G Mutation

A Hungarian infant with negative family history and normal early development presented with decreased spontaneous movements, weak crying, and myoclonic jerks in her extremities at 4.5 months of age. On examination, periodic downward eye deviation, peripapillary retinal atrophy, generalized hypotonia, decreased motor activity, and severe cognitive retardation were observed. Metabolic acidosis and elevated serum lactate were repeatedly detected. Lactate and pyruvate levels were also high in the cerebrospinal fluid. Chest x-ray, abdominal ultrasonography, and the cardiologic examination results were normal. Electroencephalography revealed slow background activity with interictal spikes. At the time of admission, brain magnetic resonance imaging suggested metabolic encephalopathy (Fig 1A,B ). The diagnosis of Leigh syndrome was confirmed by the detection of a homoplasmic T8993G mutation within the mitochondrial DNA–encoded MTATP6 gene in blood cells.

Difficult Airway Management in Osmed Syndrome.

Dear Editor; Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive inherited disorder characterized by sensorineural hearing loss and short legs associated with enlarged epiphyses (1). It is a rare disease, and many mutations and polymorphisms, such as micrognathia, glossoptosis, nonsyndromic cleft palate, Kawasaki disease, coronary artery lesions and decreased hearing, are reported in the COL11A2 gene (2). Typical facial features include mid-facial hypoplasia with a small nose and a flattened bridge of the nose. We wanted to share difficult airway management for a patient who was scheduled for nasal reconstruction with rib grafting due to flattened bridge of the nose (saddle nose) and operated. A 21-year-old patient had sensorineural hearing loss, micrognathia, protruding upper incisors, proximal cortical thickening and anterior curvature of both tibia (Figure 1). Anaesthesia induction with fentanyl and propofol after midazolam premedication and routine monitoring and muscle relaxation were provided. The patient, who had not been intubated in three attempts in spite of cricoid compression with a stylet and positioning by elevation of the head (Mallampati score III, Cormack-Lehane score IV) was hardly intubated with a video laryngoscope. At the end of the operation, lasting for approximately 80 minutes, the patient was extubated with sugammadex and referred to the service after a while. Figure 1 Presence of micrognathia, flattened nose and protrusive eyes in accordance with OSMED syndrome In these patients, palate and mid-facial congenital anomalies show a high possibility of difficult intubation (3). In this condition, the preoperative evaluation and difficult airway preparation must be complete. Moreover, airway instruments, including a laryngeal mask, flexible fibreoptic bronchoscope and video laryngoscope, must be kept available. In our case, the characteristic findings and typical facial appearance, such as disproportionate short stature, short lower extremities and enlarged epiphyses, vertebral body abnormalities and sensorineural hearing loss, were remarkable. The medical history of the patient was questioned in detail, and no pathology was detected in the cardiological examination. Awakening and recovery can also be difficult in patients who had difficult intubation (4). Short-acting rocuronium was preferred for its rapid myorelaxant action, and the specific antagonist sugammadex, which is able to reverse the myorelaxant activity in a prompt fashion. Thus, delayed extubation and haemodynamic fluctuation were prevented. In OSMED syndrome, preoperative evaluation and preparations in the operating room are important with regard to mortality and morbidity because of a difficult airway. We thought that sharing the typical findings in our case and the benefits of alternative airway instruments in the management of difficult airways would be helpful to your readers.

Comparación de hallazgos electrocardiográficos y clínicos a la radiografía de tórax en pacientes portadores de CIA con o sin repercusión hemodinámica ecocardiográfica

Background: Atrial septal defect (ASD) is the most frequent congenital heart disease reaching adulthood without diagnosis. It can be presented as a heart anorganic murmur. Some ASD require surgical closure, before irreversible pulmonary hypertension and / or arrhythmias. Objective: Describe imagenologic, electrocardiographic and clinical findings in patient with ASD with or without hemodynamic repercussion. Methods and Materials: We reviewed medical records of patients with echocardiographic ASD in Félix Bulnes Hospital, in a 1 year period. ASD was considered as ≥ 3 millimeters diameter septal defects, without associated heart&#x0D; disease, hemodynamic repercussion was considered as right ventricular enlargement. We also analyzed: reason for referral, sex, age, cardiologic examination, electrocardiography, chest radiography, treatment and outcome. Results: We analyzed 56 patients, 59% female. The median diagnosis age was 5 months. Of the total referral causes, 70% was heart murmur and 30% for other reasons. Ten showed hemodynamic repercussion, most of them referred for heart murmur, 2 for radiological cardiomegaly, 7 had ECG changes. Eight required treatment, three of them surgical. Conclusions: The most common finding in children with ASD diagnosis is heart murmur. Timing on referral is important, especially if the murmur is associated with ECG changes and/or radiological cardiomegaly, because in these cases is more frecuent to find hemodynamic repercution and some may require a faster and specific treatment.