An Unusual Antenatal Presentation of a Mature Pericardial Teratoma Masquerading as Congenital Pulmonary Airway Malformation.

We report an antenatal presentation of a huge pericardial mature teratoma that was referred as congenital pulmonary airway malformation (CPAM) in the late third trimester of pregnancy. Initial ultrasound evaluation revealed a huge predominantly cystic lesion with mixed echogenicity in the left hemithorax. A provisional diagnosis of pleural tumor was considered in view of previous scans at 20‒28 weeks being normal and associated pleural effusion. Magnetic resonance imaging of the fetus reported the lesion to be CPAM which was supported by postnatal computed tomographic imaging done on day 2 of life. However, intraoperatively, the lesion was found to be of pericardial origin which on subsequent histopathological examination was confirmed to be mature teratoma. We recommend considering potential differential diagnosis other than CPAM, especially when the lesion is found for the first time in the late third trimester.

Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.

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.

Detection of micrometastasis in axillary lymph nodes of breast carcinoma patients and its association with clinical outcome.

CONTEXT: There is heterogeneity in the clinical behavior of breast carcinoma patients with node negativity. Studies have analyzed different factors influencing the outcome in such patients. It is suggested that the presence of nodal micrometastasis can act as a tool in predicting the aggressiveness of these tumors. AIMS: The aim of this study is to assess the yield of micrometastasis/isolated tumor cell (ITC) by ultrastaging the morphologically negative axillary nodes and staining them with immunohistochemistry for epithelial membrane antigen. The association of such metastasis with the clinical outcome is determined. SETTINGS AND DESIGN: This was a retrospective analytical study. One hundred cases of node-negative breast carcinoma patients who underwent surgery along with axillary lymph node dissection were selected. MATERIALS AND METHODS: The largest node from the axillary dissection was selected and subjected to ultrastaging and immunohistochemical staining (as sentinel node dissection was not a routine practice at that time), to look for occult metastasis in the form of micrometastasis or ITCs. STATISTICAL ANALYSIS: Occurrence of events in the form of recurrence or death was noted. Association of the parameters was analyzed using Fisher's exact test. RESULTS: Among the 100 cases, 79 patients were followed up for a minimum period of 5 years. Two cases had micromets in one node each. These two patients were among the eight, who developed events subsequently (25%). Hence, a statistically significant association was found between the presence of micromets with events. CONCLUSIONS: There is a statistically significant association between the presence of micromets and disease recurrence. Hence, we suggest that ultrastaging of the negative axillary node (now sentinel node, as it is being routinely done) might prove effective in predicting the events/prognosis in clinically and morphologically node-negative breast carcinoma patients.