Sustained MRD negative remission in del17p and TP53 mutated B cell prolymphocytic leukemia with ibrutinib and venetoclax.

B cell prolymphocytic leukemia is a rare and aggressive disorder often with high risk features including TP53 mutation, deletion 17p and complex karyotype. There is scarcity of data regarding treatment and existing therapies induce short lived remissions. Ibrutinib, a Bruton tyrosine kinase inhibitor, has had success in some patients with high risk features. Venetoclax, a BCL-2 inhibitor, has primarily been used in the relapsed setting. We present a case of B PLL with deletion 17p and mutated TP53 treated with ibrutinib and venetoclax in the frontline setting which resulted in measurable/minimal residual disease negative remission for approximately three years.

Tetralogy of Fallot with absent pulmonary valve syndrome; appropriate surgical strategies.

OBJECTIVE: To evaluate patients presenting with Tetralogy of Fallot with absent pulmonary valve syndrome to a tertiary care hospital and their surgical management. METHODS: The retrospective study was conducted at Congenital Cardiac Services, Aga Khan University Hospital, Karachi, Pakistan, and comprised data of Tetralogy of Fallot patients between April 2007 and June 2012. Data was analysed together with follow-up echocardiography. Variables assessed included demographics, imaging, operative technique, complications, post-operative recovery and follow-up echocardiography. SPSS 17 was used for statistical analysis. RESULTS: Of the 204 patients, 6 (3%) had undergone surgical correction for Tetralogy of Fallot with absent pulmonary valve syndrome. All 6(100%) patients underwent complete repair. Median age for surgery was 8.5 years (range: 0.5-29 years). Of the different surgical strategies used, Contegra and Bioprosthetic valve placement had satisfactory outcome with minimal gradient at Right Ventricular Outflow Tract, good ventricular function and mild valvular regurgitation. One (16.6%) patient with Trans Annular Patch developed post-operative Right Ventricle Outflow Tract gradient of 80mmHg with moderate pulmonary regurgitation. One (16.6%) patient with monocusp valve developed free pulmonary regurgitation at 6 months. The other 4(66.6%) patients are currently free from any complications or re-intervention. CONCLUSIONS: Early surgery is preferred in symptomatic patients. The repair depends upon achieving integrity of pulmonary circulation which is best achieved by using right ventricle to pulmonary artery conduit or inserting a pulmonary valve.

Aggressive angiomyxoma: swirled configuration on ultrasound and MR imaging.

Aggressive angiomyxoma is a rare, myofibroblastic tumour, of pelvi-perineum of young women. It is a slow growing, low grade neoplasm with a high risk of recurrence following initial resection. Aggressive angiomyxoma is often clinically misdiagnosed because of its variable presentation as a soft tissue mass of the vulva, perianal region, buttock or pelvis. It displays translevator extension with growth around the perineal structures. Fewer than 150 cases have been reported in the literature since 1983. Imaging is important to determine the extent of the lesion. We present layered configuration of the mass on ultrasound and Magnetic Resonance Imaging in a 40 years old woman with a left pelvi- perineal mass since 5 years. Histapathology after excision gave a diagnosis of Aggressive Angiomyxoma.

Clinical outcomes of surgically corrected atrial septal defects.

OBJECTIVE: To examine the outcomes of surgical repair of atrial septal defects in paediatric and adult patients. METHODS: The retrospective study comprised data of 84 patients who had undergone surgical correction of atrial septal defect at the Aga Khan University Hospital, Karachi, between June 2006 and December 2011. All patients with isolated atrial septal defect (ostium secundum, ostium primum and sinus venosus with or without partial anomalous pulmonary venous connection) were included. Clinical and transthoracic echocardiographic data was reviewed. SPSS 17 was used for statistical analysis. RESULTS: There were no deaths in the study population. The mean time for follow-up was 6.5 +/- 9.9 months. Most of the patients (n = 80; 95.2%) were in NewYork Heart Association class I at follow-up, while the remaining 4 (4.8%) were in New York Heart Association class II. Post-operatively, 8 (9.5%) patients developed brief episodes of arrhythmias. There were 3 (3.57%) patients who were re-admitted within 30 days; 2 (66.7%) had superficial wound infection, while 1 (33.3%) had to be re-opened because of cardiac tamponade. CONCLUSION: Surgical repair of atrial septal defects is a safe procedure which is associated with excellent results and low morbidity.

Midterm results of bovine jugular vein conduit for right ventricular outflow tract reconstruction.

OBJECTIVE: To evaluate the midterm results of Contegra conduit. METHODS: The retrospective study comprised patient record at Aga Khan University Hospital, Karachi, of conduits implanted between May 2007 and June 2012. Data collection was made from the clinical notes and from serial echocardiograms by a single cardiologist. The last followup echocardiography was done at the time of data collection in June 2012. SPSS 19 was used for statistical analysis. RESULTS: A total of 18 conduits had been implanted (16-22 mm) during the study period. Median age at the time of surgery was 9 years (range: 2.5-16 years). Early mortality was seen in 3 (16.66%) patients, but none was Contegra related. Of the remaining 15 patients, 2 (13.33%) with a diagnosis of Pulmonary Atresia-Ventricular Septal Defect with hypoplastic peripheral Pulmonary Arteries (PA), developed severe distal pressure gradient (50 mmHg) across Contegra over a median period of 18 months (range: 12-24 months), with resultant severe regurgitation and needed percutaneous intervention. There was no thrombosis, calcification, anuerysmal dilation or late deaths. CONCLUSION: At midterm followup, Contegra conduit was associated with low re-intervention rates with satisfactory haemodynamic results. However, long-term durability must be determined for this conduit, especially in patients with Pulmonary Atresia-Ventricular Septal Defect with hypoplastic peripheral Pulmonary Arteries.

Contegra valved conduit in the paediatric population: an exciting prospect for right ventricle to pulmonary artery reconstruction; experience and outcomes at Aga Khan University.

OBJECTIVE: The focus of this study is to share the experience and outcomes of Contegra graft implantation in the paediatric and adult population in Pakistan. METHODS: Between May 2007 and July 2011, 16 patients, underwent implantation of a Contegra valved conduit. All operations were performed through a median sternotomy with cardiopulmonary bypass. Indications included: Pulmonary atresia with ventricular septal defect (n = 11), Tetralogy of Fallot with absent Pulmonary Valve (PV) syndrome (n = 2), double outlet right ventricle, transposition of great arteries and pulmonary stenosis (n = 1), isolated aortic valve disease (n = 1) and a pseudo-aneurysm with infective endocarditis (n = 1).Conduit sizes varied between 16-22 mm. RESULTS: The three in hospital deaths were unrelated to the Contegra valved conduit. One patient was lost to follow up. Of the 12 survivors, 10 are currently free from re-operation or complications related to the conduit while one needed distal pulmonary artery dilatation owing to critical stenosis and another had severe Valvular regurgitation. Echocardiographic evaluation of the Contegra valved conduit demonstrated no haemodynamically significant valve regurgitation in 10 patients. CONCLUSION: In this small review of 16 operations using the Contegra valved conduit for Right Venticular Outflow Tract (RVOT) reconstruction in the paediatric population, we observed good post operative results concerning conduit function. The Contegra conduit provides an excellent substitute to the homograft with satisfactory early and mid-term results though long-term results are awaited in Pakistan.