Left atrial myxoma-influence of tumour size on electrocardiographic findings.

OBJECTIVE: The data of 51 patients (33 females) who underwent excision of left atrial (LA) myxoma were retrospectively reviewed for correlation of tumour size and electrocardiographic (ECG) findings. METHODS AND RESULTS: Mean age was 39.1 ± 15 years (range 9-53 years). The LA enlargement (LAE) on ECG was defined by standard criteria. The LAE in ECG in these patients did not correlate with echocardiographic LA dimensions or with the degree of left ventricular (LV) inflow obstruction. But it was found that the presence of LAE in ECG predicted maximum tumour dimension of >5 cm and correlated with the degree of mitral regurgitation (MR). The LAE in ECG disappeared following surgery in 87.5% of patients. CONCLUSION: The LA enlargement on ECG in a patient with LA myxoma signifies larger tumour size or the presence of significant MR but is not necessarily associated with an increased LA size or LV inflow obstruction.

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL), and other tumor types. We report tumor risks in 358 patients with SDHB (n=295) and SDHD (n=63) mutations. Risks of HNPGL and pheochromocytoma in SDHB mutation carriers were 29% and 52%, respectively, at age 60 years and 71% and 29%, respectively, in SDHD mutation carriers. Risks of malignant pheochromocytoma and renal tumors (14% at age 70 years) were higher in SDHB mutation carriers; 55 different mutations (including a novel recurrent exon 1 deletion) were identified. No clear genotype-phenotype correlations were detected for SDHB mutations. However, SDHD mutations predicted to result in loss of expression or a truncated or unstable protein were associated with a significantly increased risk of pheochromocytoma compared to missense mutations that were not predicted to impair protein stability (most such cases had the common p.Pro81Leu mutation). Analysis of the largest cohort of SDHB/D mutation carriers has enhanced estimates of penetrance and tumor risk and supports in silicon protein structure prediction analysis for functional assessment of mutations. The differing effect of the SDHD p.Pro81Leu on HNPGL and pheochromocytoma risks suggests differing mechanisms of tumorigenesis in SDH-associated HNPGL and pheochromocytoma.

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

Mutations in succinate dehydrogense-B (SDHB) and the von Hippel-Lindau (VHL) genes result in an increased risk of developing chromaffin tumours via a common aetiological pathway. The aim of the present retrospective study was to compare the clinical phenotypes of disease in subjects developing chromaffin tumours as a result of SDHB mutations or VHL disease. Thirty-one subjects with chromaffin tumours were assessed; 16 subjects had SDHB gene mutations and 15 subjects had a diagnosis of VHL. VHL-related tumours were predominantly adrenal phaeochromocytomas (22/26; 84.6%), while SDHB-related tumours were predominantly extra-adrenal paragangliomas (19/25; 76%). Median age at onset of the first chromaffin tumour was similar in the two cohorts. Tumour size was significantly larger in the SDHB cohort in comparison with the VHL cohort (P=0.002). Multifocal disease was present in 9/15 (60%) of the VHL cohort (bilateral phaeochromocytomas) and only 3/16 (19%) of the SDHB cohort, while metastatic disease was found in 5/16 (31%) of the SDHB cohort but not in the VHL cohort to date. The frequency of symptoms, hypertension and the magnitude of catecholamine secretion appeared to be greater in the SDHB cohort. Renal cell carcinomas were a feature in 5/15 (33%) of the VHL cohort and 1/16 (6%) of the SDHB cohort. These data indicate that SDHB-related tumours are predominantly extra-adrenal in location and associated with higher catecholamine secretion and more malignant disease, in subjects who appear more symptomatic. VHL-related tumours tend to be adrenal phaeochromocytomas, frequently bilateral and associated with a milder phenotype.

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

OBJECTIVE: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations. The aim of this study was to describe the clinical manifestations of subjects with SDH-B gene mutations. DESIGN: Retrospective case-series. PATIENTS: Thirty-two subjects with SDH-B gene mutations followed up between 1975 and 2007. Mean follow-up of 5.8 years (SD 7.4, range 0-31). Patients seen at St Bartholomew's Hospital, London and other UK centres. MEASUREMENTS: Features of clinical presentation, genetic mutations, tumour location, catecholamine secretion, clinical course and management. RESULTS: Sixteen of 32 subjects (50%) were affected by disease. Two previously undescribed mutations in the SDH-B gene were noted. A family history of disease was apparent in only 18% of index subjects. Mean age at diagnosis was 34 years (SD 15.4, range 10-62). 50% of affected subjects had disease by the age of 26 years. 69% (11 of 16) were hypertensive and 80% (12 of 15) had elevated secretions of catecholamines/metabolites. 24% (6 of 25) of tumours were located in the adrenal and 76% (19 of 25) were extra-adrenal. 19% (3 of 16) had multifocal disease. Metastatic paragangliomas developed in 31% (5 of 16). One subject developed a metastatic type II papillary renal cell carcinoma. The cohort malignancy rate was 19% (6 of 32). Macrovascular disease was noted in two subjects without hypertension. CONCLUSION: SDH-B mutation carriers develop disease early and predominantly in extra-adrenal locations. Disease penetrance is incomplete. Metastatic disease is prominent but levels are less than previously reported. Clinical manifestations may include papillary renal cell carcinoma and macrovascular disease.

Venogram-guided extrathoracic subclavian vein puncture.

BACKGROUND: Subclavian vein puncture is commonly performed to insert the pacing lead for permanent pacemaker implantation. Our aim was to study the safety and feasibility of venogram-guided extrathoracic subclavian vein puncture for permanent pacemaker lead insertion. METHODS AND RESULTS: Sixty patients (32 males, and 28 females) underwent permanent pacemaker lead insertion by extrathoracic subclavian vein puncture at our institute between March 2002 and December 2002. Fifteen patients underwent dual-chamber and 45 single-chamber pacemaker implantation. All the patients underwent extrathoracic subclavian vein puncture guided by venogram, except 1 who underwent dual-chamber pacemaker implantation in whom the ventricular lead insertion was via the cephalic vein on an elective basis. The procedure was successful in all the patients. Inadvertent subclavian artery puncture occurred in 2 patients without any complication. There was no incidence of pneumothorax, hemothorax or pacemaker site infection. CONCLUSIONS: Venogram-guided extrathoracic subclavian vein puncture is safe and successful. It may be adopted as one of the preferred approaches for permanent pacemaker lead insertion.

Supravalvar aortic stenosis: clinical and hemodynamic profile, and surgical outcome.

BACKGROUND: Supravalvar aortic stenosis is the rarest of left ventricular outflow obstructions. Data on this rare entity from India are scarce. METHODS AND RESULTS: We retrospectively analyzed the data of 15 patients (13 males, mean age 15.5+/-10.18 years) with a diagnosis of supravalvar aortic stenosis confirmed by cardiac catheterization. Five patients had morphological features of Williams' syndrome. One patient had diffuse while the rest had discrete type of supravalvar aortic stenosis. Five patients did not have any associated lesions. A 9-year-old male had an ascending aortic aneurysm, and 3 patients had associated peripheral pulmonary artery stenosis. One child had a subaortic ventricular septal defect, and another had severe mitral regurgitation. Twelve patients had electrocardiographic evidence of left ventricular hypertrophy. Three patients had mild aortic valvar stenosis while 2 had aortic regurgitation. Six patients had dilated coronary arteries. Two patients with supravalvar aortic gradients of 20 and 40 mmHg were kept on close follow-up. One patient was not willing to undergo surgery while the other is awaiting surgery. Eleven patients underwent surgical correction. Dacron or pericardial patch aortoplasty was done in all the patients. In addition, one patient each underwent pulmonary artery plasty, ventricular septal defect closure, repair of ascending aortic aneurysm, and mitral valve replacement. The patient with diffuse type of supravalvar aortic stenosis underwent augmentation aortoplasty. Two patients died perioperatively. One was lost to follow-up. Two had moderate residual gradients. The rest of the patients were in New York Heart Association functional class I on follow-up of 6.3+/-4.7 years. CONCLUSIONS: Repair of supravalvar aortic stenosis by single sinus aortoplasty is safe and produces good results.

Congenital coronary anomalies of origin and distribution in adults: a coronary arteriographic study.

BACKGROUND: Coronary anomalies should be recognized to avoid problems during coronary intervention and cardiac surgery. METHODS AND RESULTS: We retrospectively reviewed 7400 coronary angiograms to find out the pattern and incidence of coronary anomalies of origin and distribution. We excluded patients with congenital heart diseases, coronary artery fistulae and patients with separate origin of the conus artery. and found 34 cases (0.46%) (22 males), mean age 50.7 +/- 12 years with coronary anomalies. Six cases underwent angiography prior to valve replacement and the rest were part of the evaluation for atherosclerotic coronary artery disease. The most common anomaly was separate origins of the left anterior descending coronary artery and left circumflex coronary artery [n=12 (35.3%)]. The next most common anomalies were origins of the right coronary artery from the left coronary sinus [n=7 (20.6%)] and left circumflex artery from the right sinus [n=6 (20%)]. A single coronary artery was seen in 3 cases (8.8%) which included one case of postmyocardial infarction ventricular septal rupture with triple-vessel disease, and another with two small coronary fistulae. One case each of the following coronary anomalies was found: (i) double right coronary artery, (ii) left anterior descending coronary artery from the right coronary sinus, (iii) all three coronary arteries originating separately from the right sinus, and (iv) left main coronary artery from the right sinus. Of these 34 patients, 11 (32.4%) had significant atherosclerotic disease in the anomalous vessel. CONCLUSIONS: The incidence of primary coronary anomaly seems to be less than that in earlier reports, but the pattern of anomalies appears to be similar.

Percutaneous transmitral commissurotomy in juvenile mitral stenosis--comparison of long term results of Inoue balloon technique and metallic commissurotomy.

OBJECTIVES: To compare the immediate and long term results of percutaneous mitral valvotomy using metallic commissurotome and Inoue balloon in juvenile mitral stenosis. BACKGROUND: Inoue balloon technique for mitral commissurotomy (IBMC) is well established and carried out worldwide in the treatment of juvenile mitral stenosis. Percutaneous mitral metallic commissurotomy (PMMC) is reported to be a cheaper and effective alternative to balloon mitral commissurotomy. METHODS: Thirty-three patients aged less than 20 years, who underwent PMMC, were compared with 33 age and sex matched control patients who underwent IBMC. Success of valvotomy, procedure related complications, and follow-up events of the two techniques were compared. RESULTS: Basal echocardiographic and hemodynamic data were similar in both groups. Procedural success was similar in both groups, 31/33. Complications like cardiac tamponade and mitral regurgitation (requiring or not requiring mitral valve replacement) were similar in both groups. On follow-up of more than 3 years, both groups had comparable hemodynamic parameters and restenosis rates. CONCLUSIONS: Both IBMC and PMMC are successful in providing relief from severe juvenile mitral stenosis in terms of gain in valve area and reduction in transmitral gradient. Both techniques have similar procedural success and complication rates. The long term follow-up results are comparable at follow-up of more than 3 years.