No abstract

AIMTo identify factors predicting outcome of endoscopic therapy in bile duct strictures (BDS) post living donor liver transplantation (LDLT).METHODSPatients referred with BDS post LDLT, were retrospectively studied. Patient demographics, symptoms (Pruritus, Jaundice, cholangitis), intra-op variables (cold ischemia time, blood transfusions, number of ducts used, etc.), peri-op complications [hepatic artery thrombosis (HAT), bile leak, infections], stricture morphology (length, donor and recipient duct diameters) and relevant laboratory data both pre- and post-endotherapy were studied. Favourable response to endotherapy was defined as symptomatic relief with > 80% reduction in total bilirubin/serum gamma glutamyl transferase. Statistical analysis was performed using SPSS 20.0.RESULTSForty-one patients were included (age: 8-63 years). All had right lobe LDLT with duct-to-duct anastomosis. Twenty patients (48.7%) had favourable response to endotherapy. Patients with single duct anastomosis, aggressive stent therapy (multiple endoscopic retrograde cholagiography, upsizing of stents, dilatation and longer duration of stents) and an initial favourable response to endotherapy were independent predictors of good outcome (P < 0.05). Older donor age, HAT, multiple ductal anastomosis and persistent bile leak (> 4 wk post LT) were found to be significant predictors of poor response on multivariate analysis (P < 0.05).CONCLUSIONEndoscopic therapy with aggressive stent therapy especially in patients with single duct-to-duct anastomosis was associated with a better outcome. Multiple ductal anastomosis, older donor age, shorter duration of stent therapy, early bile leak and HAT were predictors of poor outcome with endotherapy in these patients.

Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involving 10 tertiary referral centers in India, we analyzed the clinical course and genotype of 54 patients from 37 families. Family screening identified 19 new patients (35%) from 12 index cases. Then, 33 GLA gene variants were identified in 49/54 (90.7%) which included 11 novel and 22 known pathogenic variants. Of the 54 patients in our cohort, 40 patients had “classical” and 10 patients had a “nonclassical” presentation. The symptoms and signs included kidney dysfunction in 38/54 (70.3%), neuropathic pain in 34/54 (62.9%), left ventricular hypertrophy in 22/49 (44.8%) and stroke in 5/54 (9.2%). Female heterozygotes were 10/54 (18.5%) of whom 2 were index cases. There was a significant delay in reaching the diagnosis of 11.7 years. Enzyme replacement therapy was initiated in 28/54 (51.8%) patients with significant improvement of neuropathic pain and gastrointestinal symptoms. This study highlights the clinical presentation and mutational spectrum of FD in India and suggests that family screening and screening of high‐risk groups (hypertrophic cardiomyopathy, idiopathic chronic renal failure and cryptogenic stroke) could be the most cost‐effective strategies for early identification of FD.

Anomalies of the mitral valve apparatus in hypertrophic cardiomyopathy are an important cause of systolic anterior motion. Patients with significant residual obstruction due to systolic anterior motion after myectomy and anterior mitral leaflet plication may end up having mitral valve replacement. We describe the case of a 52-year-old man who underwent posterior mitral leaflet plication to correct residual systolic anterior motion after anterior mitral leaflet plication.

The PRKAG2 syndrome is a rare autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), characterized by ventricular pre-excitation, progressive conduction system disease and left ventricular hypertrophy. This study describes the phenotype, genotype and clinical outcomes of a South-Asian PRKAG2 cardiomyopathy cohort over a 7-year period. Clinical, electrocardiographic, echocardiographic, and cardiac MRI data from 22 individuals with PRKAG2 variants (68% men; mean age 39.5 ± 18.1 years), identified at our HCM centre were studied prospectively. At initial evaluation, all of the patients were in NYHA functional class I or II. The maximum left ventricular wall thickness was 22.9 ± 8.7 mm and left ventricular ejection fraction was 53.4 ± 6.6%. Left ventricular hypertrophy was present in 19 individuals (86%) at baseline. 17 patients had an WPW pattern (77%). After a mean follow-up period of 7 years, 2 patients had undergone accessory pathway ablation, 8 patients (36%) underwent permanent pacemaker implantation (atrio-ventricular blocks—5; sinus node disease—2), 3 patients developed atrial fibrillation, 11 patients (50%) developed progressive worsening in NYHA functional class, and 6 patients (27%) experienced sudden cardiac death or equivalent. PRKAG2 cardiomyopathy must be considered in patients with HCM and progressive conduction system disease.