Brothers with constrictive pericarditis - A novel mutation in a rare disease.

Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome CACP syndrome and also revealed a rare mutation in the causative gene.

Echocardiographic parameters in clinical responders to surgical pericardiectomy - A single center experience with chronic constrictive pericarditis.

BACKGROUND: Chronic constrictive pericarditis (CCP) is the end result of chronic inflammation of the pericardium. Developing countries continue to face a significant burden of CCP secondary to tuberculous pericarditis. Surgical pericardiectomy offers potential cure. However, there is paucity of echocardiography data in post-pericardiectomy patients vis-a-vis their clinical status. We studied the changes in multiple echocardiographic parameters in these patients before and after pericardiectomy. METHODS: Twenty-three patients (14 men, 9 women) who underwent pericardiectomy for CCP in the last 5 years (from January 2009 to December 2014) were subjected to detailed clinical and echocardiographic evaluation during the study period (between June 2013 and December 2014). Patients with residual symptoms of NYHA class II and below were considered as 'responders'. The data thus obtained were compared to the pre-operative parameters. RESULTS: After pericardiectomy, the incidence of vena caval congestion decreased from 100% to 15% (p<0.001). There was significant reduction in the mean left atrial size from 39.33±10.52mm to 34.45±10.08mm (p<0.001) and also the ratio of left atrium to aortic annulus from 1.93 to 1.69 (p<0.001) among 'responders' to pericardiectomy. Septal bounce was observed to persist in 5 (25%) patients after pericardiectomy. There was significant respiratory variation of 39.23±15.11% in the mitral E velocity before pericardiectomy. After pericardiectomy, this variation reduced to 14.43±7.76% (p<0.001). There was also significant reduction in the respiratory variation in tricuspid E velocities from 31.33±18.81% to 17.35±16.26% (p<0.001). After pericardiectomy, the mean ratio of mitral annular velocities, medial e': lateral e', reduced from 1.08 to 0.87 (p<0.03). The phenomenon of 'annulus reversus' was found to persist in 6 'responders', thereby reflecting a 50% reduction in its incidence after pericardiectomy (p<0.001). The ratio of mitral E to medial e' (E/e') increased from 4.21±1.35 before pericardiectomy to 6.91±2.62 after pericardiectomy (p=0.001). CONCLUSION: Among clinical responders to surgical pericardiectomy, echocardiographic assessment revealed a significant reduction in vena caval congestion, LA size, ratio of LA to aortic annulus, septal bounce, respiratory variation in mitral and tricuspid E velocities, mitral annular medial e' and the phenomenon of annulus reversus. Also, there was a significant rise in minimum tricuspid and mitral E velocities and the E/e' ratio.

Percutaneous tricuspid valvotomy for pacemaker lead-induced tricuspid stenosis.

Permanent pacemaker lead-induced tricuspid regurgitation is extremely uncommon. We report a patient with severe tricuspid stenosis detected 10 years after permanent single chamber pacemaker implantation in surgically corrected congenital heart disease. The loop at the level of the tricuspid valve may have caused endothelial injury and eventually led to stenosis. Percutaneous balloon valvotomy for such stenosis has not been reported from India.

Classical Cardiovascular Manifestations of Marfan Syndrome.

Presence of multiple cardiovascular manifestations of the Marfan syndrome in the same patient is not commonly encountered. We present a 49 year-old lady with this syndrome who presented with decompensated heart failure. Evaluation revealed presence of extensive Stanford type A aortic dissection alongwith severe aortic and mitral incompetence. However, the patient declined surgery and was discharged on medical management. At a year's follow-up, she had dyspnea of NYHA class II with persistent cardiovascular findings.

An extremely rare cause of Eisenmenger syndrome.

Persistent Truncus Arteriosus (PTA) is an extremely rare defect accounting for under 1% of all congenital heart disease, and over 85% of patients succumb to heart failure in infancy. We report a case of van Praagh type A3 PTA, which represents its rarest variant and accounts for only 8-10% of all patients with PTA. The presence of ductal stenosis in such cases is further exceedingly rare.

Hypopituitarism as unusual sequelae to central nervous system tuberculosis.

Neurological tuberculosis can very rarely involve the hypophysis cerebri. We report a case of an eighteen year old female who presented with five months duration of generalised apathy, secondary amenorrhea and weight gain. She was on irregular treatment for tuberculosis of the central nervous system for the last five months. Neuroimaging revealed sellar and suprasellar tuberculomas and communicating hydrocephalus requiring emergency decompression. Endocrinological investigation showed hypopituitarism manifesting as pituitary hypothyroidism, hypocortisolism, hypogonadotropic hypogonadism, and hyperprolactinemia. Restarting anti-tuberculosis treatment, hormone replacement therapy, and a ventriculo-peritoneal shunt surgery led to remarkable improvement in the general condition of the patient.