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BACKGROUND: HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in treating a patient with Haemophilus parainfluenzae endocarditis. CASE PRESENTATION: We describe the case of a previously fit and well 23 year-old woman who presented to her local emergency department with a four-week history of persistent febrile illness. She had associated nausea, vomiting, and lethargy. This was preceded by an episode of mucopurulent rhinorrhoea. She was treated empirically with oral amoxicillin for a putative diagnosis of rhinosinusitis. Initially, her symptoms abated, however, she was readmitted with high fevers and a new pansystolic murmur. Transthoracic echocardiography revealed a large, mobile, echogenic mass, tethered to the posterior mitral valve leaflet (PMVL) and mild mitral regurgitation (MR). On examination, she had multiple non-tender, erythematous macules on the plantar surface of her feet, consistent with Janeway lesions. Two separate blood cultures grew H. parainfluenzae. Infectious diseases recommended a four-week course of intravenous ceftriaxone. Transesophageal echocardiography demonstrated a perforation within the P3 segment of the PMVL. Subsequently, the patient underwent mitral valve repair surgery with an uneventful recovery. CONCLUSIONS: Our case highlights the importance of promptly diagnosing HACEK endocarditis. A prolonged course of antibiotic therapy can be lifesaving, and surgery is often necessary to address complications such as perforation within the mitral valve leaflets. In our patient, we were able to perform a sliding P2 leaflet plasty for good quality repair of the mitral valve, through a minimally invasive right anterior thoracotomy.
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OBJECTIVE: To compare early and late outcomes of septal myectomy in patients with obstructive hypertrophic cardiomyopathy who presented with residual or recurrent left ventricular outflow tract (LVOT) obstruction after previous septal-reduction therapy (SRT). METHODS: From January 1989 to March 2022, 145 patients underwent reintervention by septal myectomy for residual LVOT obstruction after previous SRT; 72 patients had previous alcohol septal ablation (ASA) and 73 had previous surgical septal myectomy. Baseline patient characteristics, echocardiographic parameters, and surgical outcomes were compared between these 2 groups. RESULTS: Patients who had previous ASA were more likely to be male (50.0% vs 30.1%; P = .015), be older (median age 57.5 years vs 48.3 years; P < .001), and have a greater body mass index (32.7 kg/m2 vs 30.0 kg/m2; P = .011). After repeat SRT by septal myectomy, there was no significant difference in the incidence of postoperative complete heart block, necessitating permanent pacemaker, between the 2 groups (8.3% vs 2.7%; P = .151). One (0.7%) patient died within 30 days of surgery. Over a median follow-up of 7.5 years (interquartile range, 3.0-13.8), there were 20 deaths. Kaplan-Meier 5-, 10-, and 15-year survival rates were 100%, 91%, and 76% for the previous septal myectomy group, and 93%, 81%, and 64% for the previous ASA group (P = .207). CONCLUSIONS: Septal myectomy for residual or recurrent LVOT obstruction in patients who had previous ASA is safe, with an acceptably low rate of postoperative complete heart block. Surgical outcomes and late survival rates in patients with complete heart block ASA were satisfactory and comparable with patients who underwent repeat myectomy.
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A solitary fibrous tumour of the pleura (SFTP) is a rare pathology, frequently benign in nature, and is usually diagnosed incidentally on imaging. We herein describe the case of a previously fit and well, 35-year-old Caucasian lady, who presented to us with a history of progressively worsening shortness of breath. Her chest X-ray showed a near-complete opacification of the right hemithorax, with displacement of the mediastinum towards the left. This study was supplemented by a computed tomography (CT), which demonstrated a well-circumscribed, non-homogenous mass, occupying the entirety of the right hemithorax. A large, smooth, encapsulated tumour was surgically resected via a posterolateral thoracotomy, measuring approximately 23.1 cm x 21.0 cm x 11.5 cm and weighing 3640 grams. Histopathology confirmed the diagnosis of a benign SFTP with an intermediate malignant potential. At six months, a follow-up CT scan demonstrated no evidence of disease recurrence.
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Carotid body tumours (CBT), also called carotid paragangliomas, are highly vascular glomus tumours that originate from paraganglionic cells of the carotid body. They are frequently asymptomatic, insidious, and non-secretory in nature. They typically present as a large, non-tender, pulsatile neck mass. Careful evaluation of a neck mass, with the aid of imaging, is necessary to avoid a misdiagnosis. We herein describe a case of a 77-year-old gentleman with a background of chronic B-cell lymphocytic leukaemia, who was found to have a rapidly enlarging, asymptomatic neck mass along with multiple enlarged lymph nodes in the axillae. Given his past medical history, the preliminary diagnosis was Richter's transformation. However, the characteristic splaying of the internal and external carotid arteries on imaging prompted us to consider the diagnosis of a CBT. The patient was referred to vascular surgeons for surgical excision of the tumour. Histology confirmed that the neck mass was indeed a CBT. Ultrasound-guided core biopsy of the axillary lymph nodes revealed a concomitant Hodgkin-like Richter's transformation. This case exemplifies how we were able to differentiate between a CBT and nodal mass with the aid of various imaging modalities. An accurate diagnosis allows clinicians to deliver the appropriate management; the treatment for CBT is surgical excision, whereas chemotherapy is the first-line treatment for Richter's transformation.
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A pericardial cyst is a rare and benign cause of a mediastinal mass. They are frequently asymptomatic and are usually incidental findings on imaging. Symptoms may include persistent cough, atypical chest pain, dysphagia, and dyspnea. Diagnosis is usually established with the aid of imaging, including a chest x-ray, a computed tomography (CT) scan, and magnetic resonance imaging (MRI). Therapeutic options include surgical resection or aspiration for large and/or symptomatic cysts, whereas conservative management with routine follow-up is advised for small or asymptomatic cysts. We herein describe the case of a 48-year-old lady, who presented with clinical features suggestive of acute cholecystitis, with an incidental finding of a pericardial cyst, measuring approximately 10.1 cm x 8.7 cm x 10.7 cm. The patient underwent video-assisted thoracoscopic surgery (VATS) for excision of the pericardial cyst. She had an uneventful recovery and was discharged on the second post-operative day. At six months, there was no evidence of disease recurrence.
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CONTEXT: Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions is poorly understood. OBJECTIVE: We investigated genetic causes of PAI in children and young people over a 25 year period. DESIGN SETTING AND PARTICIPANTS: Unpublished and published data were reviewed for 155 young people in the United Kingdom who underwent genetic analysis for PAI of unknown etiology in three major research centers between 1993 and 2018. We pre-excluded those with CAH, autoimmune, or metabolic causes. We obtained additional data from NR0B1 (DAX-1) clinical testing centers. INTERVENTION AND OUTCOME MEASUREMENTS: Genetic analysis involved a candidate gene approach (1993 onward) or next generation sequencing (NGS; targeted panels, exomes) (2013-2018). RESULTS: A genetic diagnosis was reached in 103/155 (66.5%) individuals. In 5 children the adrenal insufficiency resolved and no genetic cause was found. Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 30/155, 19.4%), NR0B1 (DAX-1; 7.7%), CYP11A1 (7.7%), AAAS (7.1%), NNT (6.5%), MRAP (4.5%), TXNRD2 (4.5%), STAR (3.9%), SAMD9 (3.2%), CDKN1C (1.3%), and NR5A1/steroidogenic factor-1 (SF-1; 0.6%). Additionally, 51 boys had NR0B1 variants identified through clinical testing. Although age at presentation, treatment, ancestral background, and birthweight can provide diagnostic clues, genetic testing was often needed to define the cause. CONCLUSIONS: PAI in children and young people often has a genetic basis. Establishing the specific etiology can influence management of this lifelong condition. NGS approaches improve the diagnostic yield when many potential candidate genes are involved.