Evaluation and management of pulmonary atresia with intact ventricular septum

The Consensus Conference of the American College of Medical Genetics has established guidelines regarding the evaluation of patients with mental retardation (MR) [Curry et al., Am. J. Med. Genet. 72:468-477, 1997]. They emphasized the high diagnostic utility of cytogenetic studies and of neuroimaging in certain clinical settings. However, data on the diagnostic yield of these studies in well-characterized populations of individuals with MR are scant. Majnemer and Shevell [J. Pediatr. 127:193-199, 1995] attained a diagnostic yield of 63%. However, this study included only 60 patients and the classification included pathogenetic and causal groups. The Stella Maris Institute has evaluated systematically patients with developmental delay (DD)/MR and performed various laboratory studies and neuroimaging in almost all patients. We report a retrospective analysis of the diagnostic yield of 120 consecutive patients observed at our Institute during the first 6 months of 1996. There were 77 males and 43 females; 47 were mildly delayed (IQ 70-50), 31 were moderately delayed (IQ 50-35), and 42 were severely delayed (IQ 35-20). Diagnostic studies (history, physical examination, standard cytogenetics, fragile X testing, molecular studies, electroencephalography, electromyography, nerve conduction studies, neuroimaging, and metabolic screening tests) yielded a causal diagnosis in 50 (41.6%) and a pathogenetic diagnosis in 47 (39.2%) of the 120 patients. Causal categories included chromosomal abnormalities (14), Fra(X) syndromes (4), known MCA/MR syndromes (19), fetal environmental syndromes (1), neurometabolic (3) disorders, neurocutaneous (3) disorders, hypoxic-ischemic encephalopathy (3), other encephalopathies (1), and congenital bilateral perisylvian syndrome (2). Pathogenetic categories included idiopathic MCA/MR syndromes (35), epileptic syndromes (10), and isolated lissencephaly sequence (2). Diagnostic yield did not differ across categories and degree of DD. Our results, while confirming the diagnostic utility of cytogenetic/molecular genetic, and neuroimaging studies, suggest the usefulness of accurate electroencephalogram recordings, and stress the importance of a thorough physical examination. Referral to a university child neurology and psychiatry service, where a comprehensive assessment with a selected battery of investigations is possible, yields etiologic findings in a high percentage of DD/MR patients, with important implications for management, prognosis and recurrence risk estimate.     

Outcome after operations for pulmonary atresia with intact ventricular septum

OBJECTIVE:Pulmonary atresia with intact ventricular septum is an anatomically heterogeneous anomaly with a variety of surgical strategies possible. We sought to compare the outcome of patients with a single ventricle approach to those with a biventricular repair and to compare outcome of patients with coronary abnormalities to those with normal coronary arteries. METHODS: A retrospective review of our surgical database revealed 67 patients with pulmonary atresia with intact ventricular septum operated on between 1981 and 1998. Patients were categorized on the basis of initial surgical strategy: strategy A, aortopulmonary shunt alone (n = 31); strategy B, right ventricular recruitment (n = 32); strategy C, heart transplantation (n = 4). Tricuspid valve size (Z-score) and coronary anatomy were determined. Right ventricular-coronary artery dependency was noted in 8 patients. RESULTS: Overall actuarial survivals at 1, 5, and 8 years were 82%, 76%, and 76%. Mortality was highest in infancy (10 of 16 deaths). Outcome was equivalent for all 3 strategies. There was no difference in tricuspid valve size between survivors and nonsurvivors (mean Z-score -2.0 (2.5) vs -2.0 (1.9), P =.83). There was no difference in survival based on severity of coronary abnormality. Only one third of patients had a successful biventricular repair, and the tricuspid valve was significantly larger in these than in patients who had Fontan operation (mean Z-score -0.53 [1.6], range -3.5 to 1, versus mean Z-score -3.03 [2.7], range -5.5 to 0, P =.002). CONCLUSIONS: Surgical outcome for patients born with pulmonary atresia with intact ventricular septum is satisfactory. The strategies of biventricular repair, single ventricle palliation, and heart transplantation allow for equal outcome among all anatomic subtypes.     

Transcatheter laser-assisted balloon valvulotomy as primary treatment in newborn with pulmonary atresia and intact ventricular septum

We report our initial experience and the first case in Thailand in successfully performing transcatheter laser perforation of membranous pulmonary valve and subsequent balloon dilations of the valve in a 14-day-old baby with pulmonary atresia and intact ventricular septum. After the procedure, right ventricular angiograms revealed anterograde flow across the pulmonary valve. There was no major complication. Doppler echocardiography one week later demonstrated a pressure gradient across the pulmonary valve of 30 mmHg and right ventricular systolic pressure of 60 mmHg. Her peripheral oxygen saturation improved from 70's immediately after the procedure to 92-97 per cent at one-month after the procedure.     

Determinants of successful balloon valvotomy in infants with critical pulmonary stenosis or membranous pulmonary atresia with intact ventricular septum

OBJECTIVES: This study reviewed our experience with percutaneous balloon valvotomy in infants with critical pulmonary stenosis or membranous pulmonary atresia with intact ventricular septum and defined the anatomic and hemodynamic characteristics of infants in whom this procedure is successful and provides definitive therapy. BACKGROUND: Unlike children with valvular pulmonary stenosis, the follow-up of infants with critical pulmonary stenosis undergoing percutaneous balloon valvotomy is limited. METHODS: Between December 1987 and August 1992, percutaneous balloon valvotomy was attempted in 12 infants with critical pulmonary stenosis (n = 10) or pulmonary atresia with intact ventricular septum (n = 2). Two outcome groups were identified: Group A patients are acyanotic, have mild residual pulmonary stenosis and have not required operation; Group B patients have required operation. RESULTS: Of the 12 infants, 11 had a successful balloon valvotomy procedure. Group A patients (n = 7) have a residual gradient of 22 +/- 18.7 mm Hg (mean +/- SD) at follow-up of 3.2 years (range 1.2 to 5.0). In Group B (n = 5), operation was required for inability to cross the pulmonary valve (n = 1) or persistent severe hypoxemia for > or = 2 weeks after valvotomy (n = 4). Significant differences (p < or = 0.01) between the two groups (Group A vs. Group B) were identified in pulmonary valve annulus (Z value) 8.1 mm (-1.1) versus 5.5 mm (-3.4); tricuspid valve annulus (Z value) 14.0 mm (0.8) versus 8.8 mm (-1.8); right ventricular volume 65 versus 29 ml/m2; and Lewis index 10.9 versus 8.9. CONCLUSIONS: Percutaneous balloon valvotomy is effective and likely to provide definitive therapy in infants with critical pulmonary stenosis or membranous pulmonary atresia with intact ventricular septum who have a tricuspid valve annulus > 11 mm, pulmonary valve annulus > or = 7 mm and right ventricular volume > 30 ml/m2.     

Pulmonary atresia with intact ventricular septum: long-term results of "one and a half ventricular repair"

BACKGROUND: Between 1982 and 1984, we successfully performed "one and a half ventricular repair" using a Glenn shunt for 3 patients with pulmonary atresia with intact ventricular septum. Here we review the 10-year follow-up results. METHODS: In these patients, the preoperative Z scores of the tricuspid valve diameters ranged from -5.2 to -6.5. Right ventricular outflow tract reconstruction combined with a Glenn shunt were performed in all patients. Cardiac catheterization was done at least 10 years post-operatively. RESULTS: All 3 patients have maintained New York Heart Association functional class I status for more than 10 years. Angiography in 2 patients confirms sufficient left pulmonary artery pressure with pulsatile blood flow and good right ventricular contraction. A pulmonary arteriovenous fistula has developed in 1 patient. CONCLUSIONS: Although the lower limits of the tricuspid valve diameter for "one and a half ventricular repair" using a cavopulmonary shunt have not yet been determined, we successfully performed this procedure in 3 patients with severely hypoplastic right ventricles and tricuspid valve diameter Z scores of less than -5.0. The results up to 10 years postoperatively are acceptable.     

Disease of the left ventricle in pulmonary atresia with intact ventricular septum. The limiting factor for long-lasting successful surgical intervention?

We and others have shown that normal myocardium exhibits 4 to 5 dB diastolic-to-systolic cyclic variation (CV) of integrated backscatter. To investigate the effect of intramyocardial contrast on integrated backscatter, we injected 5% sonicated albumin, containing microbubbles in the range of 5 microns in diameter, into the left atrium in nine open-chest dogs. The dogs were anesthetized and placed in the right lateral decubitus position on a specially designed table with a cutout allowing ultrasound imaging from below. Ultrasonic data was obtained from the right precordium by use of a prototype M-mode integrated backscatter system implemented in a commercially available two-dimensional system. Usable data were obtained in eight of nine dogs. Integrated backscatter increased up to 13 dB after contrast injections. There was a significantly decreased CV of integrated backscatter during myocardial contrast in all eight dogs. The mean level of CV of integrated backscatter for the eight dogs decreased from 4.7 dB (530 beats analyzed) without contrast to 2.8 dB during contrast (436 beats analyzed). There was a trend to greater CV at higher levels of contrast. Septal excursion, as measured by M-mode echocardiography simultaneously with integrated backscatter by the same ultrasound beam, was similar with and without contrast (mean 8.2 vs 8.3 mm). Thus left atrium contrast injection produces quantitatively measurable integrated backscatter effects. Cyclic variation of integrated backscatter decreases with contrast. However, at higher contrast levels the decrease tends to be smaller. These effects should be considered during quantitative tissue characterization and myocardial contrast studies.     

Surgical repair of coronary sinus type partial anomalous pulmonary venous drainage with intact atrial septum

A method to prevent co-elution of steroid sulfates with proteins in serum from the pre-column in column-switching HPLC was developed. The pre-column, a polymer-coated mixed function column, was used for ion-pair chromatography with 5 mM tetra-n-butylammonium (TBA) ion. As steroid sulfates, estriol 3-sulfate, dehydroepiandrosterone 3-sulfate and pregnenolone 3-sulfate were used. Human serum (25 microl) was diluted with mobile phases including 5, 100 and 500 mM TBA ion, and then injected directly into the pre-column. The peak areas of the steroid sulfates in serum samples were compared with those of the steroid standards without serum. When 25/microl of serum was diluted with mobile phase including 100 or 500 mM TBA ion, the steroid sulfates in serum were retained in the pre-column; however, the steroid sulfates from the same sample diluted with mobile phase containing 5 mM TBA ion were not retained in the pre-column. Addition of an excess amount of counter ion (TBA ion) into the serum sample made it possible to retain the steroid sulfates in the pre-column. This method was applied to column-switching HPLC for measurement of steroid sulfates in serum using a semi-microcolumn as the analytical column.     

Pulmonary atresia with intact i.v. septum (author''s transl)

Eight cases of pulmonary atresia with intact ventricular septum, are reviewed. Three corresponded to the group with small or hypoplastic right ventricle and five to the one with normal or enlarged right ventricular cavity. The electrocardiogram was of less value than plain chest radiography for the differential diagnosis of both groups. Cardiac catheterization revealed a right to left atrial shunt and the suprasystemic level of the right ventricular pressure. Selective angiocardiography demonstrates the stop of contrast at the level of pulmonary valve. Five patients were operated. An ascending aorta to right pulmonary artery anastomosis, Waterston type, was performed in three patients. Pulmonary valvotomy was carried out in the others.     

A case of total cavopulmonary connection with preceding tricuspid valve closure in pulmonary atresia and intact ventricular septum, right ventricular-coronary artery fistulae, and coronary artery stenoses]

More than half of the patients with pulmonary atresia and intact ventricular septum (PA/IVS) are known to complicate right ventricular-coronary artery fistula (fistulae) and particularly those with coronary artery stenoses bear a high mortality rate and remain in a surgical challenge. A 4-year-old girl was first admitted to our hospital at 5 days of age and right ventriculogram revealed markedly hypoplastic tripartite ventricle and multiple fistulae through which both coronary arteries and aortic root were retrogradely opacified. Echocardiographically measured diameter of the tricuspid valve was 5 mm (Z value: 4). She underwent pulmonary valvotomy and central aorto-pulmonary (AP) shunt at 16 days of age. Repeat right ventriculogram at 1.9 years of age disclosed multiple stenoses in left anterior descending coronary artery (LAD) with proximal dilatation and tortuosity. Additional findings of left ventricular dysfunction (LVEF of 61.5%) and depressed ST segment in left precordial leads prompted us to proceed to the second palliation which comprised take-down of central AP shunt, bidirectional cavopulmonary shunt and closure of tricuspid and pulmonary valves. Catheterization at 3.4 years of age disclosed antegradely filled LAD with apparent relief of stenoses and improvement of LVEF to 68.9%. She underwent definitive repair of total cavopulmonary connection at 4.0 years of age and is leading a normal life 2 years after surgery. This experience draws us to conclude that tricuspid valve closure is a meaningful palliative procedure for PA/IVS with fistulae and coronary artery stenoses, provided that proximal segments of both coronary arteries remain intact.     

Pulmonary valve atresia with ventricular septum defect: interventional recanalization of the right ventricular outflow tract]

A case of pulmonary atresia with ventricular septal defect is reported where continuity between the right ventricle and the hypoplastic pulmonary artery was established interventionally. The atretic valve was perforated using a special "perforation needle" with a sharp and stiff distal and a flexible proximal part. Perforation of the bifurcation was well tolerated without later sequelae. After perforation of the atresia, dilation was successfully performed using 2, 4, and 7.2 mm balloons with a pressure of 10 atm; the arterial oxygen saturation increased from 72% to 84%. Four weeks later repeated "valvuloplasty" was performed (balloon diameters 8 mm, 9.5 mm, and 12 mm) and the "valve" ring was dilated to a diameter of 10.5 mm. Although no general conclusions can be drawn from this single application, mechanical perforation of the atresia could become an attractive interventional approach for the treatment of pulmonary atresia.     

Surgical treatment of ventricular septal defect complicated by pulmonary hypertension at high altitude

Home care providers have a professional and legal obligation to help prevent their elderly patients from being abused and neglected by family members and other home care providers. The elderly are often in a vulnerable situation because they depend on family members or others to help with personal care, housekeeping chores, and money management. A recent article in a major newspaper illustrates the problem. It reported that Mr. X, who was 84 years old, had been without food or water while he lay curled in the trunk of his car for 2 days before he was found by the police. When found, he reported that he saw daylight only when his housekeeper lifted the car trunk lid to ask him if her forgery of his check looked authentic. After he was rescued, he acknowledged that he was confused about why his housekeeper, who had befriended him, had turned on him. He expressed concern for her and hoped she would get a break in her sentencing. "She didn't kill me," he said. This situation is not that unusual. Elder abuse and neglect is a major public health problem in the United States, with most cases hidden from public scrutiny. The National center on Elder Abuse reports that cases of domestic abuse against the elderly increased from 117,000 in 1986 to 241,000 in 1994, and that represented only a fraction of older Americans who were abused and neglected in their homes. The Center estimates that 818,000 elderly Americans were victims of various types of domestic abuse in 1994. They believe the rise in reported cases illustrates a growing pattern of violence and neglect among the nation's expanding elderly population.     

Surgical treatment of pulmonary aspergillosis

There is controversy about the optimal treatment for pulmonary aspergillosis. Eight patients with pulmonary aspergilloma underwent surgical treatment. Three patients had tuberculosis, one Sj?gren syndrome, one aortitis syndrome, one malignant lymphoma. Lobectomy was performed in five patients, segmentectomy in three patients. All patients are alive and have no recurrence. We have obtained excellent results from surgery and advocate early surgery for localized lesions to prevent life-threatening hemoptysis. This will allow patients to continue with further treatment for the underlying disease. We encountered a granulocytopenic patient with rapidly progressive aspergillus infection resulting in occlusion of main pulmonary artery leading to death. Surgical intervention could not prevent this fatal outcome. The selection of the patients with diffuse lesions should be made carefully.     

Systemic collateral and pulmonary artery stenosis in patients with congenital pulmonary valve atresia and ventricular septal defect

Angiograms of 30 patients with congenital pulmonary valve atresia, ventricular septal defect, and large systemic-pulmonary collateral arteries (SPCAs) were evaluated. All had aortography, 28 had SPCA arteriography, and 26 had right ventriculography. Seventeen (65%) of 26 patients had a right ventricular infundibulum, 23 (77%) had a pulmonary artery confluence, and five of the nine patients without a right ventricular infundibulum had a confluence. Sixty-six SPCAs of aortic origin were seen; 28 (42%) had narrowing and 21 patients (70%) had one or more narrowed SPCAs. Five patients had collaterals from internal mammary, subclavian or innominate arteries. Fourteen (47%) had hilar pulmonary artery stenosis. Of these 14 patients mild peripheral stenosis was demonstrated in five. Right aortic arch was present in 15 patients (50%). Complete angiographic delineation of pulmonary vasculature is an essential procedure for preoperative detection of pulmonary and SPCA stenoses in these patients.     

Surgical treatment of biliary atresia in the liver transplantation era

Biliary atresia (BA) still remains one of the most intractable gastrointestinal diseases in infancy despite the concerted efforts of pediatric surgeons all over the world. The introduction of liver transplantation has revolutionized the protocols for the treatment of this condition. In this editorial, the role of hepatic portoenterostomy (the Kasai procedure) in the surgical treatment of BA in the "transplantation era" will be discussed.     

Surgical treatment of chronic pulmonary thromboembolism

It has become increasingly obvious that free radicals and lipid peroxidation contribute to brain damage from trauma by mediating edema formation and ischemia. It should, therefore, be expected that the actual level of endogenous antioxidants, as for example, vitamin C and E in plasma, has an influence on the extent of free radical-induced injury. In this communication we investigate the effect of dietary changes in the free radical scavenger alpha-tocopherol on posttraumatic cerebral swelling in Sprague-Dawley rats. Low, normal, and high plasma levels of alpha-tocopherol were established by respective diets supplied over 2 weeks. Animals of all groups received the same food without alpha-tocopherol. One group was fed a vitamin E-free diet. The pellet-food for the other animals was supplemented either with 5-mg alpha-tocopherol/100 g or 250-mg alpha-tocopherol/100 g dry mass, respectively. The vitamin E-free diet lowered the alpha-tocopherol level in plasma to 30% of control, whereas supplementation with 250 mg/100 g led to a plasma concentration of 200% of control. The animals were then subjected to a focal cold injury of the left cerebral hemisphere. Twenty-four hours after trauma the brain was removed and the water content of each hemisphere was determined by the wet-dry weight method. Swelling of the traumatized hemisphere was calculated as the difference in weight between the traumatized and contralateral control hemisphere. The 2-week alpha-tocopherol supplementation or -deletion diet, respectively, did not either afford significant reduction or lead to an enhancement of traumatic brain swelling. Likewise, the increase in brain water content of the traumatized hemisphere was not affected. It is concluded that supplementation or depletion of alpha-tocopherol for 2 weeks, resulting in a marked increase or decrease of the vitamin E plasma level, does not influence formation of posttraumatic vasogenic brain edema.     

Surgical treatment of atypical pulmonary tuberculosis

During a 12 year period from January 1962 to December 1973, 48 patients with atypical mycobacterial infection of the lung were treated surgically with excellent results. There were no deaths, and sputum conversion was achieved in all of them. The considerable drug resistance of the atypical mycobacteria and the possible ill effects of prolonged conservative treatment in cases with active disease and drug resistant organisms are pointed out. Early surgical treatment is recommended in such circumstances. Some bacterioligical and biological characteristics of atypical mycobacteria are also discussed.