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:Cardiac auscultation is one of the most cost-effective techniques used to detect and identify many heart conditions. Computer-assisted decision systems based on auscultation can support physicians in their decisions. Unfortunately, the application of such systems in clinical trials is still minimal since most of them only aim to detect the presence of extra or abnormal waves in the phonocardiogram signal, i.e., only a binary ground truth variable (normal vs abnormal) is provided. This is mainly due to the lack of large publicly available datasets, where a more detailed description of such abnormal waves (e.g., cardiac murmurs) exists. To pave the way to more effective research on healthcare recommendation systems based on auscultation, our team has prepared the currently largest pediatric heart sound dataset. A total of 5282 recordings have been collected from the four main auscultation locations of 1568 patients, in the process, 215780 heart sounds have been manually annotated. Furthermore, and for the first time, each cardiac murmur has been manually annotated by an expert annotator according to its timing, shape, pitch, grading, and quality. In addition, the auscultation locations where the murmur is present were identified as well as the auscultation location where the murmur is detected more intensively. Such detailed description for a relatively large number of heart sounds may pave the way for new machine learning algorithms with a real-world application for the detection and analysis of murmur waves for diagnostic purposes.
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: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: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: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.