Clinical characteristics and treatment outcomes of patients with Brugada syndrome in northeastern Thailand

INTRODUCTION

Brugada syndrome (BrS) is a common genetic cause of sudden cardiac arrest (SCA) due to polymorphic ventricular tachycardia and ventricular fibrillation. The current recommended therapy for high-risk BrS patients is the use of an implantable cardioverter defibrillator (ICD). The present study aimed to report the clinical characteristics and treatment outcomes of BrS patients in northeastern Thailand.

METHODS

Patients who were diagnosed with BrS or had a Brugada electrocardiogram (ECG) between 2005 and 2012 at Khon Kaen University’s hospitals were enrolled in the present study. Patients’ clinical characteristics, ECG type, laboratory results and treatment were reviewed.

RESULTS

A total of 90 eligible patients were enrolled. Of these, 79 (87.8%) patients were symptomatic – 65 (82.3%) had documented SCA and 14 (17.7%) had unexplained syncope. The remaining 11 (12.2%) patients were asymptomatic with Brugada ECG. A majority of the patients enrolled were born in northeastern Thailand. The mean age of the symptomatic patients was 44.49 ± 8.55 years. Among the symptomatic patients, a majority were male (n = 77, 97.5%) and 23 (29.1%) patients had a family history of SCA. Almost all BrS patients who were symptomatic (96.2%) received ICD treatment for secondary prevention. The number of patients who received appropriate ICD therapy was 4.2 times of those who received inappropriate shocks. Only 3 (3.8%) symptomatic BrS patients refused ICD treatment.

CONCLUSION

Clinical characteristics did not distinguish between symptomatic BrS patients and asymptomatic patients with Brugada ECGs. The clinical characteristics and treatment outcomes for the symptomatic BrS patients with SCA and unexplained syncope were similar. Among the BrS patients implanted with secondary prevention ICD in Northeastern Thailand, nearly one-third had received appropriate ICD therapy, far exceeding the incidence of device-related complications and inappropriate therapy.     

Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome

Melorheostosis is a rare, progressive bone disease accompanied by hyperostosis and soft tissue fibrosis. While affected adults present with contracture and pain, children present with limb length discrepancy and deformity. We report the case of a 20-year-old woman with melorheostosis since childhood who presented with right hand deformity and numbness. Radiographs showed not only a combination of dense sclerosis and opacities, but also the classic ‘flowing candle wax’ appearance. Radiography can be used to identify melorheostosis, thus preventing unnecessary bone biopsies. Carpal tunnel release revealed the presence of a thickened flexor retinaculum and a degenerated median nerve distal to the retinaculum, but did not show hyperostosis. This case highlights the role of nerve decompression in melorheostosis and the importance of early identification of the disease to prevent unnecessary bone biopsies.     

Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.     

Achalasia and Down syndrome: a unique association not to be missed

Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.     

Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by venous malformations in the skin, gastrointestinal tract and other parts of the body. Its presentation is usually sporadic, although cases of autosomal dominant inheritance have been reported. Usually seen in children, BRBNS presentation in adults is rare. Symptoms at presentation depend on the organs involved; patients with BRBNS may present with acute or chronic gastrointestinal bleed. We herein report a rare presentation of BRBNS in an adult who suffered from intermittent abdominal pain and melaena for three years. Contrast-enhanced computed tomography revealed a jejunojejunal intussusception with a vascular malformation as the lead point. The patient underwent laparotomy with resection of the intussuscepted bowel segment. Recovery was uneventful. In spite of a wide range of therapeutic options for the management of BRBNS described in the literature, the efficacy of those available therapies, including surgical excision, is not well established.     

Clinics in diagnostic imaging (159). Jejunal intussusception due to Peutz-Jeghers syndrome.

A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed by characteristic histopathological appearances of Peutz-Jeghers polyps. PJS is a rare hereditary condition characterised by unique hamartomatous polyps, perioral mucocutaneous pigmentations, and increased susceptibility to gastrointestinal and extraintestinal neoplasms. Patients usually present with recurrent abdominal pain due to intussusception caused by polyps. Other modes of presentations include rectal bleeding and melaena. We describe the imaging findings of PJS and provide a brief review of bowel polyposis syndromes. The latter are relatively rare disorders characterised by multiple polyps in the large or small intestine, with associated risk of malignancies and other extraintestinal manifestations. Awareness of the manifestations and early diagnosis of these syndromes is crucial to prevent further complications.     

Overlap syndrome between chronic obstructive pulmonary disease and obstructive sleep apnoea in a Southeast Asian teaching hospital

INTRODUCTION

Overlap syndrome between obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD) is important but under-recognised. We aimed to determine the prevalence of overlap syndrome and the predictors of OSA in patients with COPD.

METHODS

Patients aged ≥ 40 years were recruited from a dedicated COPD clinic and underwent overnight polysomnography. A diagnosis of OSA was made when apnoea-hypopnoea index (AHI) was ≥ 5.

RESULTS

In all, 22 patients (aged 71 ± 9 years), predominantly men, were recruited. Mean values recorded were predicted forced expiratory volume in the first second percentage 55 ± 15; body mass index 23.7 ± 6.5 kg/m²; Epworth Sleepiness Scale score 5.6 ± 5.8; and AHI 15.8 ± 18.6. Among the 14 patients with OSA (prevalence of overlap syndrome at 63.6%), the mean number of hospital visits for COPD exacerbations in the preceding one year was 0.5 ± 0.7. Patients with overlap syndrome had worse modified Medical Research Council dyspnoea scale scores and a lower percentage of rapid eye movement (REM) sleep than patients without. There were no other statistical differences in lung function or sleep study indices between the two patient groups.

CONCLUSION

The majority of our patients had overlap syndrome and minimal exacerbations, and were not obese or sleepy. Significant differences between patients with and without overlap syndrome were seen in two aspects – the former was more dyspnoeic and had less REM sleep. Our findings suggest that standard clinical predictors cannot be used for patients with overlap syndrome, and therefore, a high index of suspicion is needed.     

Asymmetric left ventricular hypertrophy associated with morbid obesity mimicking familial hypertrophic cardiomyopathy

Asymmetric septal hypertrophy with systolic anterior motion of the mitral valve is frequently a phenotypic, but not pathognomonic, expression of genetic hypertrophic cardiomyopathy (HCM) with or without obstruction. It can, however, be associated nonspecifically with other forms of increased left ventricular (LV) afterload. We herein report the case of a young man with obesity cardiomyopathy and heart failure who presented with asymmetric septal hypertrophy and marked LV hypertrophy, and endomyocardial biopsy ruled out genetic HCM.     

Clinics in diagnostic imaging (161). Cervical OPLL with cord compression

A 53-year-old man presented with acute cervical myelopathy following a fall. Cervical radiography and computed tomography showed ossification of the posterior longitudinal ligament (OPLL) from C2 to C6 level, with severe cervical canal stenosis and cord compression. Magnetic resonance imaging further showed increased T2-weighted signal in the spinal cord at the level of greatest central spinal canal stenosis. OPLL is a significant cause of myelopathy in Asian populations and is found in up to 25% of patients presenting with cervical compression myelopathy. The clinical presentation, radiological evaluation and management of OPLL are discussed.     

Comprehensive psychological intervention to improve outcome in functional gastrointestinal disorder: a cohort study

INTRODUCTION

Patients with functional gastrointestinal disorders (FGIDs) have a decreased quality of life (QoL). Psychological illnesses are strongly associated with FGIDs. This study examined the effect of a comprehensive psychological intervention programme designed for refractory FGID patients.

METHODS

Refractory FGID patients at a tertiary gastroenterology unit were encouraged to participate in a psychological intervention programme, which included screening for anxiety and depression in patients, educating patients and physicians on FGIDs, and providing early access to psychiatric consultation for patients with significant psychological illnesses. The duration of follow-up was six months. Outcomes were measured using the Irritable Bowel Syndrome-QoL (IBS-QoL) instrument and the EuroQol five dimensions (EQ-5D) questionnaire.

RESULTS

A total of 1,189 patients (68% female, 80% Chinese, mean age 48.6 years) participated in the programme. Among these participants, 51% had a significant psychological disorder (Hospital Anxiety and Depression Scale [HADS] anxiety or depression score > 7). These participants had a significantly poorer QoL (IBS-QoL and EQ-5D, both p < 0.0001), and were more likely to be single or English-speaking, as compared to the participants without psychological disorders. Participants who completed ≥ 3 months of follow-up (n = 906) showed significant and durable improvement. High baseline HADS anxiety score predicted improvement (p < 0.001), with participant IBS-QoL and EQ-5D scores decreasing over time.

CONCLUSION

The intervention programme was associated with a clinically meaningful improvement in the QoL of patients with refractory FGIDs. High baseline anxiety was predictive of improvement.     

Imaging of acute cholecystitis and cholecystitis-associated complications in the emergency setting

Acute cholecystitis is a common cause of right upper quadrant pain in patients presenting at the emergency department. Early diagnosis and recognition of associated complications, though challenging, are essential for timely management. Imaging studies, including ultrasonography, computed tomography and magnetic resonance imaging, are increasingly utilised for the evaluation of suspected cases of cholecystitis. These investigations help in diagnosis, identification of complications and surgical planning. Imaging features of acute cholecystitis have been described in the literature and are variable, depending on the stage of inflammation. This article discusses the spectrum of cholecystitis-associated complications and their imaging manifestations. We also suggest a checklist for the prompt and accurate identification of complications in acute cholecystitis.     

Paroxysmal autonomic instability with dystonia (PAID) syndrome following cardiac arrest

Paroxysmal autonomic instability with dystonia (PAID) appears to be a unique syndrome following brain injury. It can echo many life-threatening conditions, making its early recognition and management a challenge for intensivists. A delay in early recognition and subsequent management may result in increased morbidity, which is preventable in affected patients. Herein, we report the case of a patient who was diagnosed with PAID syndrome following prolonged cardiac arrest, and discuss the pathophysiology, clinical presentation and management of this rare and under-recognised clinical entity.     

Intra-arterial calcium stimulation test with hepatic venous sampling for preoperative diagnosis of a large insulinoma in an obese young man

Herein, we report the case of a large benign insulinoma in an obese young man with a three-year history of asymptomatic hypoglycaemia. He presented to our outpatient department with a two-week history of dizziness and morning cold sweats. A random serum glucose test revealed hypoglycaemia. Upon admission, computed tomography and magnetic resonance imaging of the abdomen with intravenous contrast media showed an enhancing mass lesion in the uncinate process of the pancreas. To confirm the diagnosis, an intra-arterial calcium stimulation test with hepatic venous sampling was performed for preoperative localisation and to exclude the presence of occult insulinomas. The patient underwent an exploratory laparotomy, with successful resection of the pancreatic head tumour. Histology confirmed the diagnosis of insulinoma. The patient’s postoperative recovery was uneventful, and he has not developed further episodes of hypoglycaemia three years post surgery.     

Myoclonic seizures in a preterm baby: is this a presentation of venlafaxine withdrawal?

Venlafaxine, a serotonin and norepinephrine reuptake inhibitor, is increasingly used in pregnant women with pre-existing depression who require continued treatment. However, its in utero effects on the developing fetus are not clear. Herein, we report the unusual presentation of venlafaxine withdrawal in a female preterm baby of 29 weeks gestation, who presented with myoclonic seizures on her second day of life. The seizures were confirmed using amplitude-integrated electroencephalography, and other possible causes of neonatal seizures were excluded. The baby responded to treatment with phenobarbitone and phenytoin. Magnetic resonance imaging of her brain was unremarkable at corrected gestational age of 39 weeks and 2 days. On follow-up at the corrected age of five months, she was well and developing normally with no further seizures. To the best of our knowledge, this is the first report of seizures in a preterm baby resulting from maternal venlafaxine use.     

Clinics in diagnostic imaging (156). Golf-induced hamate hook fracture.

The wrist is a common site of injury and the most frequently injured body part among professional golfers. A 37-year-old, right-handed male golfer presented with pain at the ulnar aspect of his left palm, which grew worse after an initial traumatic impact from the golf club handle. There was tenderness over the hypothenar eminence of the left palm. Computed tomography of the left wrist showed an undisplaced fracture through the base of the hamate hook. The golf-induced hamate hook fracture was managed conservatively, with cessation of physical activity involving the left hand and wrist for eight weeks. The patient made a full recovery. Repetitive trauma, exacerbated by improper wrist motion, leads to typical wrist injuries affecting golfers, such as ulnar impaction syndrome, de Quervain’s disease, and tendinopathy affecting the flexor carpi ulnaris and extensor carpi ulnaris, all of which can be diagnosed on imaging.     

Multiple malignancies in a female patient with common variable immunodeficiency syndrome

We herein present the case of a 55-year-old woman with a previous history of malignancies – uterine adenocarcinoma, basal cell carcinoma (which occurred twice consecutively), recurrent respiratory infections due to common variable immunodeficiency (CVID), and systemic granulomatous disease diagnosed at a later age. The patient suffered from diffuse large B cell lymphoma (DLBCL), which was successfully treated with R-CHOP chemotherapy, and continued with immunoglobulin supplementation. The patient was free of lymphoma and infectious complications for over 20 months despite her persistent immunodeficiency, but eventually developed colorectal adenocarcinoma. To the best of our knowledge, this is the first reported case of CVID associated with multiple solid tumours and DLBCL.     

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort

INTRODUCTION

First trimester screening (FTS) is a validated screening tool that has been shown to achieve detection rates of 84%–90% for trisomies 21, 18 and 13. However, its effectiveness for different maternal ages has not been assessed. The present study aimed to assess the performance of FTS in an Asian population, and to compare its effectiveness in older (≥ 35 years) and younger (< 35 years) women. The potential use of noninvasive prenatal test (NIPT) as a contingent screening test is also examined.

METHODS

Data on cases of FTS performed on singleton pregnancies over a six-year period was collated from two Singapore maternal centres, National University Hospital and Singapore General Hospital. Cases that had a 1:250 risk of trisomy were considered to be screen-positive. Pregnancy outcomes were obtained from birth records or karyotype test results.

RESULTS

From 10,289 FTS cases, we obtained a sensitivity of 87.8%, a specificity of 97.6%, a false positive rate of 2.4% and a false negative rate of 0.06% for the detection of aneuploidy. The overall detection rate for trisomy 21 was 86.5%–85.7% for older women and 87.5% for younger women. The mean number of invasive tests required per case of trisomy 21 was 9.3 in younger women, 8.6 in older women and 13.5 in women with intermediate risk (1:250–1,000).

CONCLUSION

While the performance of FTS was similar in younger and older women, more invasive procedures were required to diagnose trisomy 21 in women with intermediate risk. It may be advantageous to offer contingent NIPT to this group of women to reduce the risk of iatrogenic fetal loss.     

An unusual case of dysphonia and dysphagia

A 68-year-old man presented with a six-month history of painless dysphagia, malnutrition, anorexia and vocal hoarseness. Signs of severe mitral regurgitation and preserved left atrial dimensions were discovered on transthoracic echocardiography. However, electrocardiography and chest radiography were strongly suggestive of left atrial enlargement. Further investigations confirmed extrinsic compression of the oesophagus, which caused the dysphagia. Computed tomography of the throrax revealed a giant left atrium that was not appreciated on echocardiography. Hoarseness was found to be caused by right recurrent laryngeal nerve palsy. Ortner''s syndrome, which describes the occurrence of vocal hoarseness due to a cardiopulmonary disease that results in the compression of the left recurrent laryngeal nerve, is usually associated with severe mitral stenosis. Herein, we report an unusual case of Ortner''s syndrome caused by a giant left atrium, which resulted from severe mitral regurgitation, causing extrinsic oesophageal compression and right recurrent laryngeal nerve palsy. Physicians should remain cognisant of cardiovascular disorders as uncommon causes of painless dysphagia or vocal hoarseness.