Ian D. Sullivan

Ebstein's anomaly: Presentation and outcome from fetus to adult

OBJECTIVES This study was conducted to investigate the presentation and outcome of patients with Ebsteins anomaly of the tricuspid valve. BACKGROUND Ebstins anomaly may present at any age and has a highly variable clinical course. Previous natural history studies have been based on clinical and angiographic diagnosis and have included mainly older children and adults. Echocardiography, however, has facilitated fetal and neonatal diagnosis so that the natural history needs to be redefined. METHODS We reviewed 220 cases of Ebsteins anomaly presenting from fetal to adult life between 1958 and 1991, with 1 to 34 years of follow-up. RESULTS The most common presentation in each age group was abnormal routine prenatal scan for fetuses (86%), cyanosis for neonates (74%), heart failure for infants (43%), incidental murmur for children (63%) and arrhythmia for adolescents and adults (42%). Early presentation was frequently associated with other cardiac lesions, usually pulmonary stenosis or atresia. Surgery was undertaken at some stage in 86 (39%) of the 220 patients. Actuarial survival for all liveborn patients was 67% at 1 year and 59% at 10 years. There were 58 deaths, including 26 from heart failure, 19 perioperative and 8 sudden. Predictors of death included echocardiographic grade of severity at presentation (relative risk 2.7 for each increase in grade, 95% confidence limits 1.6 to 4.6), fetal presentation (6.9, confidence limits 1.6 to 16.5) and right ventricular outflow tract obstruction (2.1, confidence limits 1.1 to 4.4). Morbidity was mainly related to arrhythmias and late hemodynamic deterioration. Of 155 survivors, 129 (83%) were in functional class 1 and 104 (67%) were receiving no medical therapy. CONCLUSIONS In Ebsteins anomaly, fetal and neonatal presentation is associated with a poor outcome and can be predicted by the echocardiographic appearance and presence of associated lesions. In older children and adults, incidental findings and arrhythmia are common and the long-term outcome is superior.

Outcome in neonates with Ebstein's anomaly

The presentation and outcome of 50 patients with neonatal Ebsteins anomaly seen from 1961 to 1990 were reviewed. The majority (88%) presented in the 1st 3 days of life; cyanosis (80%) was the most common presenting feature. Associated defects, present in 27 infants (54%), included pulmonary stenosis in 11 and atresia in 7. Nine patients (18%) died in the neonatal period; there were 15 late deaths (due to hemodynamic deterioration in 9, sudden death in 5 and a noncardiac cause in 1) at a mean age of 4.5 years (range 4 months to 19 years). Actuarial survival at 10 years was 61%. A new echocardiographic grade (1 to 4 in order of increasing severity of the defect) was devised with use of the ratio of the area of the right atrium and atrialized right ventricle to the area of the functional right ventricle and left heart chambers. Cardiac death occurred in 0 of 4 infants with grade 1, 1 (10%) of 10 with grade 2, 4 (44%) of 9 with grade 3 and 5 (100%) of 5 with grade 4. In a multivariate analysis of clinical and investigational features at presentation, echocardiographic grade of severity was the best independent predictor of death. Neonates with Ebsteins anomaly have a high early mortality rate and those surviving the 1st month of life remain at high risk of late hemodynamic deterioration or sudden death. Echocardiographic grading of severity of the defect permits prognostic stratification.

“Acquired” discrete subvalvular aortic stenosis: Natural history and hemodynamics☆

Discrete subvalvular aortic stenosis is a progressive lesion. Most reported cases have had a measurable left ventricular-aortic gradient that progressed in severity. This report describes 35 patients in whom no significant left ventricular-aortic obstruction was noted at initial cardiac catheterization, but who later were shown to have significant subvalvular aortic stenosis. In 24 of the 35 cases, absence of a significant left ventricular-aortic gradient (less than or equal to 10 mm Hg) was documented at initial cardiac catheterization. In 11 patients, a left ventricular-aortic pressure gradient was not obtained or not sought in the absence of clinical evidence of an obstructive lesion. In each case, discrete subaortic stenosis was not noted on angiography. Associated lesions included ventricular septal defect in 7, patent ductus arteriosus in 12, coarctation of the aorta in 8, pulmonary stenosis in 3, atrioventricular canal in 2 and miscellaneous lesions in 3 cases. The 35 patients had documentation of subvalvular aortic stenosis 3 months to 19 years after their initial study based on repeat catheterizations in 26, echocardiography in 6 or discovery at surgery in 3 cases. There were eight children with coarctation and no left ventricular-aortic gradient who developed significant subvalvular stenosis at a median of 2 years 9 months after initial cardiac catheterization. Of 30 patients with associated lesions, 23 had surgical intervention before development of subvalvular aortic stenosis, but only 5 of 17 patients with ventricular septal defect had surgical repair or palliation specifically for the interventricular communication before development of subvalvular aortic stenosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Percutaneous balloon valvuloplasty for pulmonary valve stenosis in infants and children.

Pulmonary valve stenosis was relieved by balloon dilatation during cardiac catheterisation on 27 occasions in 23 infants and children aged 7 days to 12 years, median 31 months (three aged less than 2 weeks). Pulmonary valve diameter was estimated by cross sectional echocardiography to assist in the choice of balloon size. Before dilatation the right ventricular systolic pressure ranged from 41 to 190 (median 92) mm Hg and was suprasystemic in 10 patients. There were significant reductions in the ratio of right ventricular to systemic systolic pressure and pulmonary systolic pressure gradients immediately after balloon dilatation. Twelve patients underwent recatheterisation (11 at six months and one at one week after balloon dilatation), which showed further improvement with significant reductions in right ventricular pressure or pulmonary valve gradient or both, particularly in the patients with the least satisfactory initial results. This improvement was attributed to resolution of the obstruction at infundibular level. Repeat pulmonary valve dilatation was successfully performed in four patients who had poor results after initial dilatation. Balloon pulmonary valvotomy appears to provide good short term and medium term relief of pulmonary valve stenosis and may obviate the need for surgery in many cases. An apparently poor immediate haemodynamic result does not preclude a good longer term result.

Is banding of the pulmonary trunk obsolete for infants with tricuspid atresia and double inlet ventricle with a discordant ventriculoarterial connection role of aortic arch obstruction and subaortic stenosis

Banding the pulmonary trunk may exacerbate or promote the development of subaortic stenosis in patients with double inlet ventricle or tricuspid atresia with a dominant left ventricle and discordant ventriculoarterial connection and, therefore, may be an inappropriate palliative procedure for such patients. To examine this possibility, 102 consecutive infants were studied who presented with this anatomy between 1972 and 1987. Obstruction of the aortic arch was present in 52 patients. In 28 patients (17 with aortic arch obstruction), subaortic stenosis was already apparent at presentation. Of the remaining 74 patients, 19 received no palliative surgery and 55 underwent banding of the pulmonary trunk either with (n = 22) or without (n = 33) aortic arch repair. Outcome was significantly worse in patients with associated aortic arch obstruction. All such patients either died or developed subaortic stenosis by 3 years of age (survival free of subaortic stenosis 0 of 22 versus 22 of 33 for patients with isolated banding of the pulmonary trunk, p less than 0.001). After isolated banding, there was a lower ratio of the ventricular septal defect to ascending aorta diameters at presentation in the patients who developed subaortic stenosis than in the patients who did not (0.60 +/- 0.08 versus 1.03 +/- 0.15, p less than 0.001). Of the latter, 18 (95%) of 19 patients fulfilled criteria for a Fontan procedure at recatheterization. Thus, the presence of aortic arch obstruction is associated with rapid development of subaortic stenosis after banding of the pulmonary trunk. Alternative initial surgery, even though high risk, may be indicated. In the absence of such obstruction, banding the pulmonary trunk can be performed at reasonable risk and, provided that the ventricular septal defect is of adequate size, satisfactorily prepares most patients for a later Fontan procedure.

Five-year follow-up after balloon pulmonary valvuloplasty

OBJECTIVES The aim of this study was to assess results 5 years after balloon pulmonary valvuloplasty. BACKGROUND Since the technique of balloon pulmonary valvuloplasty was first reported in 1982, it has become the treatment of choice for pulmonary valve stenosis. In contrast to surgical valvotomy, the long-term outcome after balloon pulmonary valvuloplasty is unknown. METHODS We reviewed the findings in 34 patients 5.2 +/- 0.8 (mean +/- SD) years after balloon pulmonary valvuloplasty: 27 with isolated pulmonary stenosis, 5 with Noonan syndrome and 2 with previous surgical valvotomy. In eight patients (three with Noonan syndrome), a second balloon valvuloplasty was the index procedure for analysis. RESULTS The transpulmonary gradient (mm Hg) was 74 +/- 34 before balloon pulmonary valvuloplasty, 36 +/- 26 immediately after, 22 +/- 9 at cardiac catheterization in 29 patients 6 +/- 0.6 months later and 19 +/- 10 by Doppler study at 5 years. At 5 years 26 patients (group A) had a residual gradient of < or = 20 mm Hg; the remaining 8 (group B) had a gradient of > 20 mm Hg. Four group B patients had Noonan syndrome (p = 0.01). Balloon/pulmonary valve diameter ratio was larger for group A patients than for group B patients with isolated pulmonary stenosis (1.20 +/- 0.10 vs. 1.00 +/- 0.07, p = 0.005); larger balloons were used in group B patients with Noonan syndrome (1.30 +/- 0.10). Group A patients were more likely than group B patients to have significant pulmonary incompetence (6 of 24 vs. 0 of 8) and had a greater right ventricle/left ventricle long-axis diastolic dimension ratio (0.47 +/- 0.10 vs. 0.35 +/- 0.04, p = 0.05). In the subgroup of five patients with Noonan syndrome and two with prior surgical valvotomy, the transpulmonary gradient was reduced from 74 +/- 24 mm Hg before balloon valvuloplasty to 23 +/- 12 mm Hg at 5 years. In addition, two patients with isolated pulmonary valve stenosis had pulmonary valve dysplasia by angiographic criteria: transpulmonary gradients of 85 and 56 mm Hg were reduced to 20 and 11 mm Hg, respectively, at 5 years. CONCLUSIONS Relief of obstruction persists at 5 years especially if oversized balloons are used. Acceptable results can be obtained in patients with a dysplastic valve. More complete relief of right ventricular outflow gradient is associated with increased right ventricular dimension, probably because more pulmonary incompetence is induced. This is well tolerated at 5 years but may be important in the longer term.

Extending the Boundaries of the Primary Arterial Switch Operation in Patients With Transposition of the Great Arteries and Intact Ventricular Septum

Background—We have previously suggested that the primary arterial switch operation is a feasible strategy for patients with transposition of the great arteries and intact ventricular septum (TGA-IVS) up to age 2 months. This study reports our current results with this approach and examines whether this policy could be extended beyond age 2 months. Methods and Results—380 patients who underwent arterial switch for TGA-IVS were reviewed. 275 patients were younger than 3 weeks at the time of surgery (early switch group); 105 patients were 3 weeks or older (range, 21 to 185 days) (late switch group). There was no difference in outcome in terms of in-hospital mortality (5.5% versus 3.8%) or need for mechanical circulatory support (3.6% versus 5.7%) between early and late switch groups. However, duration of postoperative ventilation (4.9 versus 7.1 days, P=0.012) and length of postoperative stay (12.5 versus 18.9 days, P<0.001) were significantly prolonged in the late switch group. Primary left ventricular failure resulting in death occurred in 2 patients in the late switch group, with no deaths in 9 patients aged 2 to 6 months. Conclusions—This experience confirms that in TGA-IVS, the left ventricle maintains the potential for systemic work well beyond the first month of life. Consequently, neonates at high risk or late referrals can benefit from delayed arterial switch, even beyond age 2 months. However, the need for mechanical support in some of the older patients may limit the widespread adoption of such a strategy.

Anomalous origin of the left coronary artery from the pulmonary trunk. Potential for false negative diagnosis with cross sectional echocardiography.

Cross sectional echocardiography can identify anomalous origin of the left coronary artery from the pulmonary trunk. It has been suggested that identification of the left coronary artery arising from the aorta using this technique excludes the diagnosis. In three such infants the anomalous origin of the left coronary artery was identified in each by cross sectional echocardiography. In all three cases, however, an echo free linear structure apparently arising from the aorta, resembling a normal left coronary artery, was imaged. Anatomical sections in one patient, simulating cross sectional echocardiographic cuts, showed that this structure was almost certainly the transverse sinus of the pericardium. False positive cross sectional echocardiographic diagnosis of this condition is also possible because of the failure to image a normally arising left coronary artery. Thus identification of the anomalous origin of the left coronary artery from the pulmonary trunk appears to be the only reliable echocardiographic finding in this condition, and contrast cineaortography remains necessary in patients in whom the diagnosis is suspected clinically or electrocardiographically.

Late outcome of survivors of intervention for neonatal aortic valve stenosis

BACKGROUND This study examined the late outcome after intervention for neonatal aortic valve stenosis. METHODS Seventy-three neonates (59 boys and 14 girls) underwent intervention for critical aortic valve stenosis during the first 30 days of life at two institutions, The Hospital for Sick Children, London, and Duke University Medical Center, Durham, North Carolina. Procedures performed include closed valvotomy (n = 12), open valvotomy with inflow occlusion (n = 14), open valvotomy with cardiopulmonary bypass (n = 33), balloon valvotomy (n = 12), and other procedures (n = 2). The mean age at the first intervention was 8 +/- 1 days. RESULTS The hospital mortality was 52.1%. The mean duration of follow-up for the hospital survivors (n = 35) was 8.3 +/- 1.1 years. The actuarial survival for the hospital survivors was 93.3% +/- 4.7% at 10 years and 83.9% +/- 9.8% at 15 years, whereas event-free survival (reintervention, endocarditis, or early death) was 61.8% +/- 9.3% at 5 years, 34.2% +/- 10.8% at 10 years, and 27.4% +/- 10.6% at 15 years. Three patients have died and 11 patients have required aortic valve replacement during the follow-up period. The age at the initial intervention, the type of initial intervention, and the year of initial intervention were not predictive of early death or need for reintervention. At last follow-up, 26 of the long-term survivors (n = 32) were in functional class I and 6 were in functional class II. CONCLUSIONS Aortic stenosis in the neonatal period is a difficult problem with a high initial mortality. Late survival and functional class are excellent for patients surviving the initial hospitalization, but most require further intervention within 10 years.

Percutaneous balloon dilatation of aortic valve stenosis in neonates and infants.

Percutaneous balloon dilatation of severe aortic valve stenosis was attempted in thirteen patients (seven neonates and six infants). In two the valve could not be crossed and both died during subsequent operation. Two patients died during manipulation of the balloon catheter. No significant benefit was obtained in another patient who later died during operation. Balloon dilatation was successful in the remaining eight patients, reducing the aortic valve pressure gradient from a mean of 63 mmHg (95% confidence interval 38 to 88 mmHg) to a mean of 23 mmHg (95% confidence interval 7 to 39 mmHg). Two of these patients subsequently died from heart failure related to other cardiac lesions. The six survivors have done well. At follow up the maximum Doppler velocities in the ascending aorta ranged from 1.9 to 4.0 m/s after 2-23 months, but despite this evidence of an increasing valve gradient there has been lasting clinical improvement.