Evolution in the management of aorta to left ventricular tunnel in a national congenital cardiology centre.

An aorto-ventricular tunnel is a rare congenital cardiac defect, where a channel connects the lumen of the ascending aorta to the left or right ventricle. Four patients presented with an aorto-left ventricular tunnel over two decades at a median age of 8 months (range 0.1-10 months). Two patients (50%) had associated cardiac anomalies including hypoplastic left heart syndrome and left ventricular noncompaction/hypertrophic cardiomyopathy with aortic/pulmonary valve dysplasia in one patient each. Although traditionally surgical treatment has addressed this problem, management has evolved to transcatheter closure with excellent outcomes in appropriately selected patients at our national centre.

Is diffusion-weighted MRI sufficient for follow-up of neuroendocrine tumour liver metastases?

AIM: To assess if diffusion-weighted imaging (DWI) alone could be used for follow-up of neuroendocrine hepatic metastases. MATERIAL AND METHODS: This was a retrospective study, approved by the institutional review board. Twenty-two patients with neuroendocrine liver metastases who had undergone more than one liver magnetic resonance imaging (MRI) examination, (including DWI and using hepatocyte-specific contrast medium) were evaluated. Up to five metastases were measured at baseline and at each subsequent examination. The reference standard measurement was performed on the hepatocyte phase by one reader. Three independent readers separately measured the same lesions on DWI sequences alone, blinded to other sequences, and recorded the presence of any new lesions. RESULTS: The longest diameters of 317 liver metastases (91 on 22 baseline examinations and a further 226 measurements on follow-up) were measured on the reference standard by one reader and on three b-values by three other readers. The mean difference between DWI measurements and the reference standard measurement was between 0.01-0.08 cm over the nine reader/b-value combinations. Based on the width of the Bland and Altman interval containing approximately 95% of the differences between the reader observation and the mean of reference standard and DWI measurement, the narrowest interval over the nine reader/b-value combinations was -0.6 to +0.7 cm and the widest was -0.9 to 1 cm. In the evaluation of overall response using Response Evaluation Criteria in Solid Tumors (RECIST) 1.1 criteria, the weighted kappa statistic was between 0.49 and 0.86, indicating moderate-to-good agreement between the reference standard and DWI. CONCLUSION: The visualisation and measurement of hepatic metastases using DWI alone are within acceptable limits for clinical use, allowing the use of this rapid technique to restage hepatic disease in patients with neuroendocrine metastases.

Predictive value of PI-RADS classification in MRI-directed transrectal ultrasound guided prostate biopsy.

AIM: To correlate the results of transrectal ultrasound (TRUS)-guided targeted prostate biopsies (performed in the setting of at least one previous negative biopsy) with the Prostate Imaging Reporting and Data System (PI-RADS). MATERIAL AND METHODS: Fifty-two patients (mean age 64 years, range 52-76 years), with previous negative prostate biopsy underwent magnetic resonance imaging (MRI)-directed TRUS-guided targeted and sectoral biopsy. A retrospective review of MRI examinations was carried out, blinded to biopsy results. PI-RADS scores (T2, diffusion-weighted imaging [DWI] and overall) were assigned on a per lesion basis, and localised to sextants. The scores were correlated with biopsy results, and the positive predictive values (PPV) of PIRADS scores for positive biopsies were calculated. RESULTS: Overall, biopsies were positive in 23/52 (44.2%) patients. Eighty-one areas were targeted in 52 patients. On a per lesion basis, there was significant correlation between positive targeted biopsy and both T2 and overall PI-RADS score (p<0.001). The correlation between biopsy and DWI score was significant for peripheral zone tumours only, not for transitional zone tumours. The PPV of overall PI-RADS scores of 3, 4, and 5 were 10.6%, 44%, and 100%, respectively. The PPV of T2 PI-RADS scores of 3, 4, and 5 were 19.6%, 60%, and 100%, respectively. The PPV of DWI PI-RADS scores of 3, 4, and 5 were 50%, 27.3%, and 33%, respectively. When transitional tumours were excluded, the PPV of DWI PI-RADS 3, 4, and 5 were 40%, 43%, and 78%. CONCLUSION: The PIRADS score provides an effective framework for determining the likelihood of prostate cancer on MRI. The DWI PI-RADS score correlates well with the presence of peripheral zone tumour on targeted biopsy, but not with transitional zone tumours.

Should abdominal sequences be included in prostate cancer MR staging studies?

OBJECTIVES: Prostate cancer staging MR examinations commonly include abdominal sequences to assess for non-regional (common iliac or para-aortic) nodal metastasis. In our experience the diagnostic yield of this is limited, but incidental findings are frequent, often necessitating further investigations. The aim of this study is to assess the diagnostic utility of abdominal sequences in routine prostate cancer MR staging studies. METHODS: Findings on abdominal sequences of consecutive MRI prostate studies performed for staging newly diagnosed prostate cancer between September 2011 and September 2013 were reviewed with respect to adenopathy and additional incidental findings. Results were correlated with Gleason grade and serum prostate-specific antigen (PSA) level in each case. RESULTS: 355 MRI prostate examinations were reviewed. 4 (1.1%) showed enlarged non-regional lymph nodes. Incidental findings were found in 82(23.1%) cases, neccessitating further investigation in 45 (12.7%) cases. Enlarged non-regional nodes were associated with higher PSA level and Gleason grade (p=0.007, p=0.005 respectively). With a combined threshold of PSA > 20 ng/mL and/or Gleason grade ≥ 8 the sensitivity, specificity, PPV and NPV were 100, 60, 3 and 100% respectively for predicting the presence of non-regional adenopathy. CONCLUSIONS: Routine abdominal sequences are of very low yield in routine prostate cancer MR staging, frequently resulting in incidental findings requiring further work-up and should be reserved for high-risk cases. Our experience supports the use of an abdominal staging sequence in high-risk cases only.

Hemoptysis from bronchial varices associated with pulmonary vein stenosis: role of surgical repair.

We present the case of a 6-year-old child who presented with an episode of life threatening hemoptysis. Investigations revealed multiple areas of endobronchial varices and abnormal pleural vessels as well as severe left pulmonary vein stenosis and an atrial septal defect (ASD). After extensive work up and consultation he underwent repair of the left pulmonary vein using a sutureless technique and ASD closure. This resulted in a marked improvement in the appearances of the left lung. The bronchial varices in the right lung remain unchanged. No further hemoptysis has occurred and the child continues to be monitored.

Parvovirus B19 infection associated with dilated cardiomyopathy in patients with previous anthracycline exposure.

We describe two children with previous anthracycline exposure for cancer who presented with acute decompensated left ventricular dysfunction. Both patients had evidence of dilated cardiomyopathy and required mechanical ventilation and inotropic support. Parvovirus B19 was detected by polymerase chain reaction of the blood. After several weeks of ventilation and inotropic support, both patients were weaned from ventilation and managed with oral carvedilol, ACE inhibition, and diuretics. Acute left ventricular decompensation in patients following anthracycline exposure may not be solely attributed to drug exposure, and viral etiologies should be considered.

Risk factors for neo-aortic root enlargement and aortic regurgitation following arterial switch operation.

The objectives of this study were to evaluate changes in dimension of the neo-aortic annulus, aortic root, and aortic anastomosis following arterial switch operation (ASO) and to identify risk factors for developing abnormal neo-aortic root enlargement and aortic regurgitation (AR). Prior studies report development of neo-aortic root dilatation and AR in a small subset of patients after ASO. Predisposing factors for neo-aortic root dilatation and development of moderate/severe AR are poorly understood. We performed a retrospective review of all patients with d-transposition of the great arteries (d-TGA) or double-outlet right ventricle with subpulmonary ventricular septal defect (VSD) who underwent ASO from May 1986 to January 2001. Serial echocardiograms were reviewed to measure neo-aortic annulus, root, and anastomosis diameter (z scores) and to determine progression of AR. Potential risk factors were assessed for developing neo-aortic root enlargement and AR. There were 119 patients (44 female and 75 male): 73 patients had simple d-TGA, 36 had d-TGA with ventricular septal defect, and 10 had a Taussig-Bing heart. The median duration of follow-up was 65 months (range, 12-180). The median neo-aortic root (z = 0.55+/-2.2; p < 0.01) and aortic annulus dimensions (z = 1.57+/-1.75; p < 0.01) were significantly increased over the study period. Aortic anastomosis diameter correlated with growth of the ascending aorta (z = 0.55+/-1.24). Development of severe neo-aortic root enlargement was associated with prior pulmonary artery (PA) banding (p < 0.01), the presence of a VSD (p = 0.03), and Taussig-Bing anatomy (p < 0.01) but was independent of coronary arterial anatomy, coronary arterial transfer technique, or associated lesions (p > 0.05). At latest follow-up, there was no or trivial AR in 88 patients, mild AR in 29 patients, and moderate to severe AR in 3 patients. Risk factors for developing mild or worse AR included severe or rapid neo-aortic root dilatation (p < 0.01). Only 3 patients required surgical intervention for AR. Despite the significant prevalence of neo-aortic root enlargement at intermediate follow-up after ASO, there is a low incidence of significant AR. Prior PA banding, the presence of VSD, and Taussig-Bing anatomy are risk factors for severe root enlargement. Surgical intervention for AR was rare (2%), however, serial surveillance of such patients is vital to monitor for neo-aortic root enlargement and potential aortic valve dysfunction.

Outcome of 121 patients with congenitally corrected transposition of the great arteries.

Congenitally corrected transposition of the great arteries (ccTGA) is a rare disorder with reduced survival that is influenced by the presence of associated anomalies, tricuspid regurgitation (TR), and right ventricular (RV) function. The double switch procedure has been proposed as an aggressive surgical approach in selected patients. We sought to review our experience with conventional repair to determine if a change in surgical strategy was warranted. Clinical records of 121 patients with ccTGA and two adequate-sized ventricles were retrospectively reviewed. Median length of follow-up was 9.3 years; 5-, 10-, and 20-year survival rates were 92%, 91%, and 75%, respectively. Surgery was performed in 86 patients, including conventional biventricular repair in 47 patients. Risk factors for mortality by univariate analysis included age at biventricular repair (p = 0.04), complete atrioventricular (AV) canal defect (p = 0.02), dextrocardia (p = 0.05), moderate or severe TR (p = 0.05), and poor RV function (p = 0.001). By multivariate analysis, complete AV canal defect (p = 0.006) and poor RV function (p = 0.002) remained significant as risk factors for mortality. Risk factors for the development of significant TR included conventional biventricular repair (p = 0.03) and complete AV block (p = 0.04). Risk factors for progressive RV dysfunction included conventional biventricular repair (p = 0.02), complete AV block (p = 0.001), and moderate or severe TR (p < 0.001). This is the largest nonselected cohort of patients with ccTGA followed at a single center. Our results confirm that significant TR and poor RV function are risk factors for poor outcome and provide convincing evidence that patients undergoing conventional biventricular repair are at higher risk for deterioration of tricuspid valve and right ventricular function compared to palliated or unoperated patients. We support a move toward an alternative surgical approach (double switch procedure) in carefully selected patients.

The bronchial cast syndrome after the fontan procedure: further evidence of its etiology.

We describe a three-year-old boy who presented with recurrent expectoration of bronchial casts six months following creation of a fenestrated lateral tunnel Fontan circulation for pulmonary atresia with intact ventricular septum. Cardiac catheterization demonstrated elevated central venous pressure with two areas of stenosis within the Fontan circuit, specifically at the junction of the right superior caval vein and the right pulmonary artery, and between the atrial baffle and the right superior caval vein. Insertion of Palmaz stents in these areas resulted in a reduction in central venous pressure, and a transient reduction in production of casts. Eight weeks after catheterization, however, he produced further casts, which resulted in hypoxia, respiratory arrest and death. We reviewed the autopsied specimens obtained from patients with the Fontan circulation over an eleven-year period at our institution in order to ascertain the prevalence of subclinical production of bronchial casts. We found no casts in the thirteen patients examined. Hemodynamic assessment is vital in all patients who develop this syndrome, and should be the primary focus of investigation, rather than solely directing efforts at lysis of casts.

Cardiac rhabdomyoma: a report of alternative strategies to surgical resection.

Cardiac rhabdomyoma represents the commonest primary cardiac tumour. Its natural history is generally favourable, with resolution in the majority of cases. Surgical resection has been described for intractable arrhythmia, severe obstruction of the inflow or outflow tracts sufficient to compromise cardiac output, and systemic embolization. We describe an alternative palliative strategy, which was associated with regression of the tumour.

A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage.

A 30-year-old man with no family history of muscle disease presented with a progressive proximal myopathy and calf hypertrophy characteristic of Becker muscular dystrophy. A deletion of exons 45 to 48 in the dystrophin gene was confirmed by Southern blotting and multiplex polymerase chain reaction. However, muscle biopsy showed massive accumulation of glycogen, although no significant abnormality of glycolytic pathway enzymes could be demonstrated. This patient therefore has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology.

The major cystic fibrosis mutation in a British population.

We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested prenatal diagnosis in a future pregnancy. The delta F508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted. In only 4 families, 2 of them being consanguineous, did neither parent carry a deleted chromosome. Meconium ileus was associated with children who were delta F508/delta F508, delta F508/non-deleted and non-deleted/non-deleted.