An unusual cause of severe cyanosis in infancy.

An infant presented with cyanosis due to a diaphragmatic Morgagni hernia compromising right ventricular diastolic filling and resulting in right-to-left atrial-level shunting as demonstrated by contrast echocardiography. There was complete resolution of cyanosis after repair of the hernia.

Pre- and postoperative exercise testing of the child with coarctation of the aorta.

Exercise studies in patients with coarctation of the aorta (CoA) are reviewed. A brief survey of the natural history of unoperated CoA, the pioneers who reported the first operative repair, and comments on blood pressure measurements are provided. Preoperative and postoperative (postop) exercise studies of patients with CoA are also reviewed. The various etiological factors which may contribute to hypertension found in some post-op CoA patients are discussed.

Factors associated with stroke following the Fontan procedure.

We reviewed the results of 68 consecutive Fontan procedures from 1978 to 1993 to determine the frequency of late central neurologic complications of the Fontan procedure in patients living at a mean altitude of 4500 feet. Two surviving patients had transient neurologic symptoms or signs with no corresponding evidence of brain injury by magnetic resonance imaging (MRI), whereas six surviving patients had strokes defined by sustained neurologic symptoms or signs with areas of brain injury identified by MRI [8.8% (6.0-13.0%; 70% confidence limits)]. Collectively, patients with neurologic symptoms had normal hemoglobin values, platelet counts, partial thromboplastin times, and prothrombin times at the onset of clinical neurologic findings. Two patients were taking antiplatelet agents, and one patient was taking warfarin. One of the patients with transient neurologic findings and all of the stroke patients had residual right-to-left shunts. Thus strokes were not uncommon in our patients after the Fontan procedure. Brain injury may result from thromboembolic events associated with residual right-to-left shunts, but our total number of asymptomatic patients with a residual shunt or brain abnormalities by MRI is not known.

Absorbable polydioxanone suture and results in total anomalous pulmonary venous connection.

BACKGROUND: Despite theoretical advantages of absorbable suture in the growing vascular anastomosis, there has not been a documented advantage over nonabsorbable suture in preventing late anastomotic stenosis in total anomalous pulmonary venous connection (TAPVC). METHODS: We reviewed our experience from 1982 to 1994 with 65 hospital survivors of total TAPVC repair to examine the influence of suture type on survival and incidence of late pulmonary venous obstruction. From 1982 until 1988, we used continuous nonabsorbable polypropylene suture for the pulmonary venous-left atrial anastomosis in supracardiac, infracardiac, and mixed types of TAPVC: In 1989, we adopted a running absorbable polydioxanone suture technique. Cardiac catheterization and echocardiography were used to evaluate late pulmonary venous obstruction. RESULTS: Late pulmonary venous obstruction occurred in 17% (4/23) of survivors after repair with polypropylene suture compared with 3.2% (1/32) after repair with polydioxanone suture (p < 0.05). There were no instances of late pulmonary venous obstruction in the intracardiac TAPVC group (0/10). All late pulmonary venous obstructions occurred within 16 months after operation. The actuarial 3-year and 5-year freedom from late pulmonary venous obstruction was 100% for intracardiac TAPVC, 96% for the polydioxanone group, and 81% for the polypropylene group. Five patients died late (5/65, 7.7%), 3 in the polypropylene suture group (3/23, 13%) and 2 in the polydioxanone group (2/32, 6%). CONCLUSIONS: Continuous absorbable polydioxanone suture for the repair of TAPVC results in a low incidence of late pulmonary venous obstruction and death and appears to offer advantages over a continuous nonabsorbable suture. A continuous nonabsorbable suture may limit growth of a vascular anastomosis, particularly one involving a "low-pressure" anastomosis such as in the repair of TAPVC:

A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.

Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart defect that, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history and has a low recurrence risk. However, we recently reported a large Utah-Idaho family in which TAPVR segregates as an autosomal dominant trait with decreased penetrance. Linkage mapping with highly polymorphic microsatellite markers localizes the disease locus in this pedigree to the centromeric region of chromosome 4 (maximum lod = 6.51 at theta = .00). Apparent genetic anticipation in the pedigree prompted a search for expanded trinucleotide repeats by using repeat expansion detection. We have found no evidence for a trinucleotide repeat expansion that segregates with TAPVR. A vascular endothelial growth-factor receptor that is thought to have a role in vasculogenesis maps near the pericentric region of chromosome 4 and is a candidate gene for both familial and sporadic cases of TAPVR.

Familial total anomalous pulmonary venous return: a large Utah-Idaho family.

Total anomalous pulmonary venous return (TAPVR) is a rare form of cyanotic congenital heart disease which, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history, and is generally thought to have a low recurrence risk. However, 15 instances of familial TAPVR have been reported previously, suggesting a genetic cause in some cases. We report on a large family in which TAPVR appears to be determined multifactorially or as an autosomal dominant trait with variable expressivity and reduced penetrance.

Comparison of angioplasty and surgery for unoperated coarctation of the aorta.

BACKGROUND: The use of balloon coarctation angioplasty instead of surgery as treatment for unoperated coarctation of the aorta is controversial. The efficacy and complications of the two procedures have not been studied before in a prospective fashion. METHODS AND RESULTS: Thirty-six patients were prospectively randomized to either angioplasty (20 patients) or surgery (16 patients). Immediate results and patient follow-up, including physical examination, angiograms, and magnetic resonance imaging, were compared between groups. Reduction in peak systolic pressure gradient across the coarctation was similar (86%) immediately after both balloon coarctation angioplasty and surgery. On follow-up, aneurysms were seen only in the angioplasty group (20%) and not in the surgery group (0%). No aneurysms have shown progression or required surgery. The incidence of other complications was similar in both groups, although two patients experienced neurological complications after surgery. Although not statistically different, the incidence of restenosis (peak systolic pressure gradient > or = 20 mm Hg) tended to be greater in the angioplasty group (25%) than in the surgery group (6%). Restenosis after angioplasty occurred more frequently in patients with an aortic isthmus/descending aorta diameter ratio < 0.65 and was associated with an immediate catheterization residual peak systolic pressure gradient across the coarctation > or = 12 mm Hg. CONCLUSIONS: Immediate gradient reduction is similar after balloon coarctation angioplasty and surgical treatment of unoperated coarctation of the aorta. The risks of aneurysm formation and possibly restenosis after angioplasty are higher than after surgery, although the risks of other complications are similar. Balloon coarctation angioplasty may provide an effective initial alternative to surgical repair of unoperated coarctation of the aorta in children beyond infancy, particularly in patients with a well-developed isthmus. Further follow-up is necessary to determine the long-term risks of postangioplasty aneurysms.

Treatment of Kawasaki syndrome: a comparison of two dosage regimens of intravenously administered immune globulin.

Because intravenously administered immune globulin (IVIG) is effective in reducing the incidence of coronary artery aneurysms in Kawasaki syndrome when given at a dose of 400 mg/kg daily for 4 days, we undertook a multicenter clinical trial comparing two dosage regimens of IVIG. Patients were randomly assigned to receive IVIG at either 400 mg/kg daily for 4 days (22 patients) or 1 gm/kg as a single dose (22 patients). All patients received aspirin therapy, and all were enrolled within 7 days of onset of fever. The presence of coronary artery aneurysms was evaluated by means of two-dimensional echocardiography before infusion; at days 4 to 6, 14 to 21, and 42 to 49 after infusion; and at 1 year. Coronary artery aneurysms were detected in 3 of the 44 patients, including one patient receiving 400 mg/kg and two patients receiving 1 gm/kg (p value not significant). No giant aneurysms were detected. No major side effects occurred with either dosage regimen. Patients receiving the 1 gm/kg dose had a faster resolution of fever and were discharged from the hospital approximately 1 day sooner than the 400 mg/kg group (p = 0.01). Although the relatively small sample size in this trial does not allow for a more definitive statement regarding the occurrence of coronary artery aneurysms, it appears that the 1 gm/kg dose is associated with a more rapid clinical improvement and a shorter hospital stay.

Early and late results in pulmonary atresia and intact ventricular septum.

We examined the early and late results of operations in 29 consecutive neonates with pulmonary atresia and intact ventricular septum treated from 1980 to 1988. Transventricular pulmonary valvotomy and central aorta-pulmonary artery shunting were performed in 19 of 22 infants who had a patent infundibulum. Pulmonary valvotomy alone was performed in 3 of the 22 infants with a patent infundibulum, but 2 of these required subsequent systemic-pulmonary artery shunts. Primary shunting was used to palliate 7 infants who had absent infundibular portions of the right ventricle and a very diminutive right ventricular cavity. Tricuspid valve excision and atrial septectomy were also performed in 5 of these 7 infants to decompress large fistulous communications between the right ventricule and coronary artery. Two early deaths (2/29, 6.9%) occurred overall. Both were in infants who had a very small right ventricle. Definitive operation has been accomplished in 16 patients; 13 have had closure of residual interatrial communications and shunt ligation with no deaths, and 3 have undergone modified Fontan repair with 1 death. Actuarial survival rate for the entire group, including operative deaths, is 86% at 5 years. The technique of transventricular pulmonary valvotomy and systemic-pulmonary artery shunting offers a reliable means of palliating neonates with pulmonary atresia and intact ventricular septum and obtains good late right ventricular growth. Systemic-pulmonary shunting, tricuspid valvectomy, and atrial septectomy may offer a means of reducing or obliterating right ventricular-coronary artery fistulas.

Gradient reduction, aortic valve regurgitation and prolapse after balloon aortic valvuloplasty in 32 consecutive patients with congenital aortic stenosis.

From 1986 to 1988, balloon aortic valvuloplasty was performed in 32 patients with congenital valvular aortic stenosis. The patients ranged in age from 2 days to 28 years (mean +/- SD 8.3 +/- 5.9). One balloon was used in 17 patients and two balloons were used in 15 patients. Immediately after valvuloplasty, peak systolic pressure gradient across the aortic valve decreased significantly from 77 +/- 27 to 23 +/- 16 mm Hg (p less than 0.01), a 70% reduction in gradient. At early follow-up study (4.1 +/- 3.3 months after valvuloplasty), there was a 48 +/- 20.5% reduction in gradient compared with that before valvuloplasty, and at late follow-up evaluation (19.2 +/- 5.6 months), a reduction in gradient of 40 +/- 29% persisted. Echocardiography showed evidence of significantly increased aortic regurgitation in 10 patients (31%) and aortic valve prolapse in 7 patients (22%). There was no correlation between the balloon/anulus ratio and the subsequent development of aortic regurgitation or prolapse. In fact, no patient who showed a significant increase in aortic regurgitation had had a balloon/anulus ratio greater than 100%. It is concluded that balloon aortic valvuloplasty effectively reduces peak systolic pressure gradient across the aortic valve in patients with congenital aortic stenosis. However, subsequent aortic regurgitation and prolapse occur in a significant number of patients, even if appropriate technique and a balloon size no greater than that of the aortic anulus are used.

Balloon pulmonary valvotomy: palliation for cyanotic heart disease.

Balloon pulmonary valvotomy was attempted in eight children with cyanotic congenital heart disease and pulmonic stenosis who were scheduled for a palliative procedure (shunt). In seven patients the balloon could be positioned across the pulmonary anulus, and valvotomy was performed. Five of the patients had tetralogy of Fallot with multiple levels of pulmonary outflow obstruction. For all patients in whom the balloon could be properly positioned the valvotomy was successful, as judged by arterial hemoglobin saturation, which increased from 72% +/- 5% to 83% +/- 5% (p less than .005). Valvotomy was followed by an immediate rise in mean pulmonary artery pressure (12.6 +/- 2.8 to 18.3 +/- 4.8 mm Hg, p less than 0.05) and a decline in hematocrit level at 2 months (54% +/- 5% to 47% +/- 4%, p less than 0.05). There was no mortality or complication from the valvotomy, and the need for a systemic to pulmonary artery shunt was eliminated in six of eight patients. Follow-up has ranged from 0.5 to 2.8 years. This trial indicates that balloon pulmonary valvotomy can be safely performed and is effective palliation in selected patients with cyanotic heart disease that is not suitable for primary repair. The increased pulmonary flow may improve oxygenation and growth of the pulmonary arteries without the need of a systemic to pulmonary artery shunt.

Resurgence of acute rheumatic fever in the intermountain area of the United States.

We describe an outbreak of acute rheumatic fever that occurred in the intermountain area centered in Salt Lake City, Utah. Seventy-four children meeting the modified Jones criteria for the diagnosis of acute rheumatic fever were evaluated by the staff at Primary Children's Medical Center, Salt Lake City, from January 1985 through June 1986. This represents an eightfold increase over the average annual incidence at this hospital during the past decade. Carditis, a dominant feature of the outbreak, was confirmed by auscultation in 53 of the patients (72 percent). An additional 14 patients were found to have mitral regurgitation by Doppler ultrasound examination, raising the total incidence of carditis to 91 percent. The children were predominantly from white (96 percent) middle-class families with above-average incomes and with ready access to medical care. There was no apparent increase in the incidence of streptococcal disease or other explanation for the marked increase in acute rheumatic fever. However, mucoid M type 18 and M type 3 group A streptococcal strains were isolated from several siblings of the patients and from schoolchildren (chosen at random) in the area. We conclude that acute rheumatic fever remains an important health problem in the United States.

Acute rheumatic fever in the 1980s.

Acute rheumatic fever (ARF) is an inflammatory sequela which occurs in 1-3% of children afflicted with group A beta-hemolytic streptococcal pharyngitis (strep throat). The major manifestations are carditis, migratory polyarthritis and chorea. ARF recurs with repeated strep throats and frequently leads to rheumatic heart disease (RHD), usually mitral and aortic regurgitation and mitral stenosis. ARF likely results from an abnormal host immune response with a host-antibody/streptococcal antigen production in pharyngeal tissue and subsequent cross-reaction of host antibodies with host end organs. Treatment includes eradication of the streptococcus, use of high doses of salicylates and adrenal corticosteroids, and prolonged bed rest with gradual ambulation after clinical and laboratory signs of the disease are gone. While the incidence and mortality of ARF and RHD have decreased drastically in the affluent industrialized countries of Europe, North America, and in Japan, the disease is a major health problem in the less affluent, 'developing' countries of Latin America, the Middle East, Africa, India and Southeast Asia. The major risk factors for ARF are believed to be genetic or familial, inadequate medical care and crowded conditions. The last two factors are socioeconomic but may also be influenced by ethnic cultural behavior. Genetic propensity for ARF is supported by recent evidence of a specific DR-HLA marker in the majority of people with ARF or RHD. Finally, while ARF appears to be vanishing in most areas of the country, it is still prevalent in some affluent populations and in some disadvantaged minorities.

Effects of exercise training on aerobic fitness in children after open heart surgery.

Graded treadmill tests to maximal exercise were given to 24 children 1 year or more after open-heart surgery and to 26 age- and sex-matched controls, before and after 9 weeks of exercise training to test whether or not they could increase their aerobic fitness levels. The corrected cardiac lesions included tetralogy of Fallot, aortic stenosis, transposition of the great arteries and atrioventricular canal (AVC). Maximal exercise variables measured were heart rate (HR), oxygen consumption (VO2), and workload (stage of exercise and time on treadmill). The results of the pretraining tests indicated that the fitness levels of the 24 patients were significantly less than those of the controls. Of the original groups, 9 controls and 12 patients satisfactorily completed the training (jogging) program. The results of the post-training tests indicated that both the patients and controls significantly improved their fitness levels. Specifically, most subjects improved their maximal workload with little or no increase in maximal HR or VO2. In conclusion, children after open-heart surgery for complex congenital heart disease can further improve their work capacity by a dynamic exercise program. After training, they are able to do more work at a given VO2.

Hypertrophic cardiomyopathy in infants: clinical features and natural history.

The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of non-dilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. Twelve of the 14 infants who underwent left-heart catheterization showed substantial obstruction to left ventricular outflow (peak systolic pressure gradient greater than or equal to 35 mm Hg). However, unlike older patients with hypertrophic cardiomyopathy, infants with this condition commonly had marked obstruction to right ventricular outflow (35-106 mm Hg) (nine patients); in six patients, the magnitude of obstruction to right ventricular outflow was at least as great as that to left ventricular outflow. Asymmetric hypertrophy of the ventricular septum relative to the left ventricular free wall was present in the 16 patients who had echocardiographic or necropsy examination. Ventricular septal thickening was substantial in patients studied both before and after 6 months of age (mean 16 mm), indicating that in patients with hypertrophic cardiomyopathy, marked left ventricular hypertrophy may be present early in life and is probably congenital. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.

Surgical treatment of patent ductus arteriosus in preterm infants. Four-year experience with ligation in the newborn intensive care unit.

Seventy-nine consecutive patent ductus arteriosus (PDA) ligations were performed in our newborn intensive care unit (NBICU) over a four-year period. Seven infants (9%) died within one month after surgery. The deaths were not attributed to the surgery but were associated with preexisting medical complications or new intracranial hemorrhages. Significant surgical morbidity was rare. We conclude that ligation of the PDA in the premature infant can be a safe and effective procedure, when pharmacologic closure is ineffective or contraindicated. Furthermore, PDA ligation may be safely performed in the NBICU.

The natural history of hypertrophic cardiomyopathy in infants of diabetic mothers.

Eleven infants of diabetic mothers with hypertrophic cardiomyopathy have been followed for 30 to 40 months. All infants presented with cardiorespiratory distress and were found to have disproportionate septal hypertrophy on echocardiogram. Cardiac catheterization was done in four infants; three had significant subaortic obstruction. One infant had remarkable improvement after treatment with propranolol. Two infants who received digoxin did poorly and responded favorably to cessation of therapy. The natural history of HCM-IDM appears to be benign, with a resolution of symptoms within two to four weeks and a resolution of septal hypertrophy within two to 12 months. Most of the infants need only supportive care; if pharmacologic intervention is deemed necessary, propranolol appears to be the drug of choice. The natural history of this entity is that of spontaneous regression of symptoms and septal hypertrophy irrespective of therapy.

Right atrial ball-valve thrombus: a complication of central venous alimentation in an infant. Diagnosis and successful surgical management of a case.

The following is a case report of a 6-week-old premature infant in whom a ball-valve thrombus developed after prolonged central venous alimentation. Clinical presentation included facial edema, cyanotic episodes, and apnea. No murmur was present, but the diagnosis was suspected when a calcified right atrial mass became apparent on the plain chest film. The diagnosis was confirmed by echocardiography and then venous and cardiac angiography. The calcified thrombus was removed successfully from the right atrium by use of profound hypothermia with ether anesthesia and total circulatory arrest. Subsequently, the patient made an uneventful recovery and is healthy 3 years postoperatively.

Maturational changes in left and right ventricular electromechanical intervals in the newborn lamb.

Electromechanical intervals of right and left ventricles were examined in newborn lambs (9 hours to 42 days). The electromechanical interval of the left ventricle did not change with maturation, while that of the right ventricle became progressively longer, resulting in an increasing ventricular mechanical asynchrony. We postulate that the pattern of developing mechanical asynchrony described may occur secondary to postnatal changes in ventricular morphology.