Project description:An asymptomatic patient presented at our hospital exhibiting a Brugada electrocardiography pattern with coronary artery fistulas. Coronary artery fistula is a congenital or acquired rare abnormal condition with increased symptoms and complications over time. In the absence of the therapeutic consensus, we discuss the association and management for this condition. (Level of Difficulty: Advanced.).
Project description:A 20-year-old male without any symptoms was referred for heart murmur on a medical examination. A thrill was palpable at the upper left sternal border. His cardiac murmur showed respiratory variation. The systolic murmur was louder (Levine grade IV/VI) during expiration and diminished during inspiration (Levine grade I/VI). He was thin and had a narrow thoracic cage in the anteroposterior direction due to straight back syndrome (SBS). An echocardiogram and a right ventriculogram showed changes in the diameter of the right ventricular outflow tract (RVOT) on respiration. During expiration, the RVOT was compressed and narrow, while it was expanded during inspiration. Cardiac catheterization demonstrated a 10-mmHg of pressure gradient across the RVOT during expiration but no pressure gradient during inspiration. Thus, respiratory compression to the RVOT by a narrow thoracic cage due to SBS was the cause of the cardiac murmur with respiratory alterations. Our case highlights the importance of physical examination, including an inspection of the patient's physique. <Learning objective: When examining a patient with a cardiac murmur, respiratory alterations of cardiac murmurs should be auscultated. In these cases, straight back syndrome would be one of the differential diagnoses and should be considered. During a physical examination, inspection of the patient's physique is also important.>.
Project description:We present a 35-year-old male patient with Bureau-Barrière syndrome. Bureau-Barrière syndrome is an ulcero-mutilating acropathy almost invariably associated with excessive alcohol intake. It presents with a triad of trophic skin changes with recurrent ulcerations, bone lesions and nerve damage. The clinical presentation includes chronic painless plantar ulcerations with periulcerous hyperkeratosis, hyperhidrosis, livedoid skin colour, nail dystrophy, widening and infiltration of the toes and common interdigital mycoses. Other non-specific skin changes related to the alcohol consumption are commonly observed as well. The condition affects mainly middle-aged men suffering from alcoholism. Often a bilateral location at the lower limb of male alcoholics has been described, as in our patient. Successful treatment of the Bureau-Barrière syndrome requires an interdisciplinary approach. Cessation of alcohol intake and smoking is of paramount importance.
Project description:Aortic location of infective endocarditis is a risk factor for perivalvular extension of infection, even when a native valve is involved. We report the case of a 50-year-old man with a systolic murmur and a history of previous aortic valve infective endocarditis requiring cardiac surgery. A thorough echocardiographic assessment, including three-dimensional transesophageal echocardiography, clearly demonstrated the presence of two distinct postinfective complications, i.e., a fistula of the mitral-aortic intervalvular curtain communicating in systole with the left atrium and an acquired Gerbode-type ventricular septal defect. Our case highlights the pivotal role of echocardiography for a correct and comprehensive diagnostic assessment in the complex scenarios frequently encountered after infective endocarditis.
Project description:A diastolic murmur is informative in the diagnosis of valvular heart disease, such as mitral stenosis and aortic regurgitation. Patients with hypertrophic cardiomyopathy (HCM) could have diastolic murmurs, although this is not widely recognized. We describe an illustrative case of HCM which was found to have a diastolic murmur associated with mid-left ventricular obstruction. An asymptomatic 65-year-old male was referred because of an abnormal electrocardiogram. Cardiac auscultation showed a soft fourth heart sound, a systolic ejection murmur, and a third heart sound followed by a diastolic murmur at the apex. On phonocardiography, the mid-diastolic murmur was predominantly low-pitched with an onset of about 200 ms after the second heart sound and a duration of approximately 150 ms. The timing of the diastolic murmur was consistent with an increased blood inflow during diastole in the mid-ventricular obstruction (2.0 m/s), which was produced by narrowing between the hypertrophied ventricular septum and the protrusion of the anterior papillary muscle. <Learning objective: A diastolic murmur is common in valvular heart diseases, such as mitral stenosis and aortic regurgitation, and can also be heard in hypertrophic cardiomyopathy although not widely recognized. We report an illustrative case of hypertrophic cardiomyopathy with a diastolic murmur related to mid-left ventricular obstruction, findings that would highlight the importance of auscultation regarding not only the differential diagnosis but also risk stratification, given the possible association of diastolic murmurs with adverse outcomes, even in the era of advanced imaging techniques.>.
Project description:BACKGROUND:PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large "segmental" facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. CASE VIGNETTE:We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11?years and 2?months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI) of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency. CONCLUSIONS:This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.
Project description:BackgroundBinary definitions of the metabolic syndrome based on the presence of a particular number of individual risk factors are limited, particularly in the pediatric population. To address this limitation, we aimed at constructing composite and continuous metabolic syndrome scores (cmetS) to represent an overall measure of metabolic syndrome (MetS) in a large cohort of metabolically at-risk children, focusing on the use of the usual clinical parameters (waist circumference (WC) and systolic blood pressure (SBP), supplemented with two salivary surrogate variables (glucose and high density lipoprotein cholesterol (HDLC). Two different approaches used to create the scores were evaluated in comparison.MethodsData from 8,112 Kuwaiti children (10.00 ± 0.67 years) were used to construct two cmetS for each subject. The first cmetS (cmetS-Z) was created by summing standardized residuals of each variable regressed on age and gender; and the second cmetS (cmetS-PCA) was defined as the first principal component from gender-specific principal component analysis based on the four variables.ResultsThere was a graded relationship between both scores and the number of adverse risk factors. The areas under the curve using cmetS-Z and cmetS-PCA as predictors for severe metabolic syndrome (defined as the presence of ?3 metabolic risk factors) were 0.935 and 0.912, respectively. cmetS-Z was positively associated with WC, SBP, and glucose, but inversely associated with HDLC. Except for the lack of association with glucose, cmetS-PCA was similar to cmetS-Z in boys, but had minimum loading on HDLC in girls. Analysis using quantile regression showed an inverse association of fitness level with cmetS-PCA (p = 0.001 for boys; p = 0.002 for girls), and comparison of cmetS-Z and cmetS-PCA suggested that WC and SBP were main contributory components. Significant alterations in the relationship between cmetS and salivary adipocytokines were demonstrated in overweight and obese children as compared to underweight and normal-weight children.ConclusionWe have derived continuous summary scores for MetS from a large-scale pediatric study using two different approaches, incorporating salivary measures as surrogate for plasma measures. The derived scores were viable expressions of metabolic risk, and can be utilized to study the relationships of MetS with various aspects of the metabolic disease process.