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PubMedDate not supplied

Truncus arteriosus repair with double aortic homograft.

Truncus arteriosus (TA) represents 1% to 3% of congenital heart malformations and carries a high mortality if untreated of approximately 85% at 1 year, with almost half the deaths occurring during the first month of life. Significant truncal valve regurgitation (TVR) can be present in up to 50% of cases and reduces survival if persistent after surgical correction. Repair of truncal valves is a promising approach since growth potential and hemodynamics are maintained. Nevertheless this remains a technical challenge and as much as 50% of these valves still need to be replaced at the time of primary repair. Cryopreserved aortic homografts used as aortic root substitutes have provided preservation of excellent hemodynamic conditions as well as prevention of infectious and thromboembolic complications of prosthetic valves. Even if they present structural deterioration with time, they represent an attractive alternative to prosthetic valves in infants and children who would anyhow need reoperation because of the outgrowth of valvular or conduit substitutes.

Abnormalities, Multiple↗

PubMed2006

Bovine jugular vein conduit for right ventricular outflow tract reconstruction: evaluation of risk factors for mid-term outcome.

BACKGROUND: The bovine jugular vein conduit (Contegra [Medtronic, Inc, Minneapolis, MN]) is one option for right ventricular outflow tract reconstruction. We examined the effect of patient age, conduit size, hemodynamics, and cardiac malformation on early and mid-term outcome. METHODS: Seventy-eight bovine jugular vein implantations were performed over 5 years. Follow-up averaged 31 +/- 17 months. Risk factor and adverse event analyses for graft dysfunction were performed by multivariate logistic regression and Kaplan-Meier analysis. RESULTS: There was no early mortality. Two late deaths occurred after 9 and 15 months. Early postoperative echocardiography revealed bovine jugular vein regurgitation greater than 2+ in 10 patients, all of which had conduit dilatation, had received a 12-mm conduit, and had a right-ventricular-to-left ventricular pressure ratio greater than 0.6. Two additional patients had severe conduit incompetence develop at the 2-year follow-up. During follow-up, mean gradients increased from 15 to 23 mm Hg (p = 0.03) and stenosis at the distal anastomosis occurred in 25% of patients. Percutaneous interventions were performed in 19 patients (24.4%). Conduit exchange was required in 10 patients (12.8%) after a mean of 14.9 months for severe graft incompetence (8 patients) and progressive supravalvular stenosis (2 patients). Freedom from reoperation was 77.6% and 59.3% at 1 and 4 years for patients less than 1 year of age compared with 93.5% and 87.4% for patients older than 1 year of age (p < 0.001). Risk factors for reoperation were age less than 1 year, correction of truncus arteriosus, conduit size of 12 mm, and persistently elevated right-ventricular-to-left ventricular pressure ratio greater than 0.6 (p = 0.001 each). CONCLUSIONS: Bovine jugular vein implantation is associated with low reoperation and acceptable reintervention rate in patients older than 1 year of age. In infants with persistently elevated right ventricular pressure, reoperation rate was high and had to be compared with other established surgical options.

Adolescent↗

PubMed1997

Three-vessel view of the fetal upper mediastinum: an easy means of detecting abnormalities of the ventricular outflow tracts and great arteries during obstetric screening.

The three-vessel view is a transverse view of the fetal upper mediastinum is as simple to obtain as the four-chamber view. It demonstrates the main pulmonary artery, ascending aorta and superior vena cava in cross- or oblique sections. The purposes of this study were to describe the normal anatomy of the three-vessel view and to analyze what anatomical changes would occur in this view when there are lesions of the ventricular outflow tracts and/or great arteries. Sonograms of 29 fetuses with lesions involving the ventricular outflow tracts and/or great arteries were reviewed. Three-vessel views were evaluated in terms of vessel size, number, arrangement and alignment. Twenty-eight of 29 fetuses showed an abnormal three-vessel view that included abnormal vessel size (n = 12), abnormal alignment (n = 8), abnormal arrangement (n = 7) and abnormal vessel number (n = 3). The vessel size was abnormal in obstructive lesions of the right (n = 4) or the left (n = 8) side of the heart. An abnormal alignment was seen in tetralogy of Fallot (n = 6) and double-outlet right ventricle (n = 2) that showed anterior displacement of the aorta. An abnormal arrangement was seen in complete (n = 4) and corrected (n = 1) transposition, double-outlet right ventricle (n = 1) and pulmonary atresia with ventricular septal defect (n = 1). Only two vessels were seen in truncus arteriosus (n = 1). Four vessels were seen in persistent left superior vena cava (n = 2). A fetus with pulmonary atresia and intact ventricular septum showed a normal three-vessel view. In conclusion, most of the lesions involving the ventricular outflow tracts and/or great arteries showed an abnormal three-vessel view.

Aortic Valve Stenosis↗

PubMedDate not supplied

Boy:girl ratio in children born with different forms of cardiac malformation: a population-based study.

The boy:girl ratio was calculated for all live births with cardiac malformation in Bohemia (population 6.3 million) from 1977-1984. Complete coverage of all deceased children in Bohemia by necropsy and of all patients with heart disease by our center enabled us to collect reliable data. Of 4409 children born with a heart defect, there were 2296 boys and 2113 girls, a ratio of 1.09:1. In the total population of 664,218 children born during the same period of time, the ratio was 1.06:1. A higher proportion of boys was found with double outlet right ventricle (2.68:1), hypoplastic left heart (2.25:1), transposition of the great arteries (2.11:1), aortic stenosis (1.95:1), pulmonary atresia (1.55:1), tricuspid atresia (1.45:1), coarctation of the aorta (1.30:1), and corrected transposition of the great arteries (1.25:1). There were significantly more girls than boys with persistent ductus arteriosus (1:1.66), Ebstein's anomaly of the tricuspid valve (1:1.57), truncus arteriosus (1:1.22), atrioventricular septal defect (1:1.17), and tetralogy of Fallot (1:1.12). The difference in sex prevalence in the remaining heart defects was less than 10%.

Child, Preschool↗

PubMed1984

Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.

Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated alpha-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.

Female↗

PubMedDate not supplied

Congenital heart disease among 815,569 children born between 1980 and 1990 and their 15-year survival: a prospective Bohemia survival study.

The objective of this study was to ascertain the prevalence and survival rate of children born with a heart defect. A total of 816, 569 children live-born between 1980 and 1990 in Bohemia (52,478 km(2), population 6.314 million, western Czech Republic) were followed up and those with suspected heart disease referred to a center. Echocardiography was done in all of them. All dead children were autopsied. Congenital heart disease was found in 5030 of 816, 569 children (6.16 per 1000 live births). The most frequent conditions were ventricular septal defect (41.59%), atrial septal defect (8.67%), aortic (7.77%) and pulmonary (5.81%) stenoses, transposition of the great arteries (5.39%), coarctation of the aorta (5.29%) and persistent ductus arteriosus (5.07%). The first week was survived by 92.46%, the first month by 89.14%, 6 months by 82.42%, and the first year of life by 80.02%, and 77.11% (95% CI 75. 91-78.31%) survived to age 15 years. The best prognosis was found in pulmonary stenosis (15-year survival 95.55%), atrial septal defect (92.04%), persistent ductus arteriosus (90.59%), ventricular septal defect (89.37%) and aortic stenosis (88.39%). The worst results were attained in hypoplastic left heart, truncus arteriosus and pulmonary atresia with intact ventricular septum. In conclusion, the prevalence of congenital heart disease was 6.16 per 1000 live births; 77.11% of patients survived to age 15 years.

Actuarial Analysis↗

PubMed1999

[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].

BACKGROUND AND OBJECTIVE: Congenital cardiovascular (c-v) malformations are the leading signs of two syndromes of highly variable phenotypes, the DiGeorge syndrome (DGS) and the velo-cardio-facial syndrome (VCFS), both of which in the majority of cases are caused by microdeletion in the chromosome region 22q11.2. It was the aim of this study to ascertain the frequency of these chromosomal abnormalities in patients with unselected congenital cardiovascular malformation, and to assess the type of c-v malformation for which microdeletion analysis of the mentioned region would be indicated. PATIENTS AND METHODS: The cohort consisted of 90 patients with congenital c-v malformations (35 males, 55 females; mean age 3.6 years (19th week of pregnancy-36 years). Most of them were newborns. The c-v anomalies were: ventricular septal defect (n = 20), pulmonary atresia (10), Fallot's tetralogy (9), truncus arteriosus communis (6), aortic valve stenosis (6), atrioventricular canal (6), type B interrupted aortic arch (5), atrial septal defect (5), tricuspid atresia (4), hypoplastic left heart syndrome (4), persisting ductus arteriosus (3), pulmonary valve stenosis (3), complete (third degree) atrioventricular block (2), Ebstein's anomaly (1), tachycardia (1) and enlarged right atrium (1). Four of 14 fetuses included in this study had complex cardiac anomalies that could not be definitively classified. Cytogenetic karyotype analysis was unremarkable in all cases. Microdeletion detection was done by fluorescence-in-situ-hybridization (FISH). RESULTS: 14 of the 90 cases (about 16%) showed microdeletion in the examined chromosomal region 22q11.2. Among the group with microdeletion were aortic arch interruption (5/5), ventricular septal defect (2/20). Fallot's tetralogy (1/9) and atrial septal defect (1/5). All the deletion carriers had other signs of the DGS/VCFS complex. One parent each in two of the microdeletion patients had the same microdeletions. CONCLUSION: In patients with congenital c-v and associated malformations of dysmorphism microdeletion diagnosis of 22q11.2 by FISH is indicated in addition to conventional cytogenetic testing. The incidence of this microdeletion seems to be especially high among patients with type B interrupted aortic arch.

Adolescent↗

PubMed1986

Interrupted aortic arch: natural history and operative results.

The chances of survival for patients with interruption of the aortic arch depend mainly on early recognition and medical treatment before symptoms of cardiogenic shock appear, and specifically on early operative repair after the exact diagnosis has been established. Accurate angiography with visualization of the interrupted aortic arch and delineation of associated cardiac malformations is of prime importance for the surgical management and prognosis. Among our 36 patients with interrupted aortic arch, 27 were operated on. The operative mortality in 22 patients with associated ventricular septal defect (VSD) and persistent ductus arteriosus (PDA) was reduced from 43% (in seven patients seen up until 1979) to 7% (in 15 patients seen since 1980). One patient with interrupted aortic arch type C and another infant with associated truncus arteriosus were successfully corrected on day 9 and day 17 of life, respectively. In the patients with associated VSD and PDA as well as in the one patient with associated truncus arteriosus, the primary correction--direct anastomosis of the interrupted segments without prosthesis and VSD closure and in the case with truncus, the additional positioning of a valve-bearing allograft conduit from the right ventricle to the pulmonary artery--has been more successful than a two-step approach with initial pulmonary artery banding.

Aorta, Thoracic↗

PubMed1996

Echocardiographic findings in Eldoret: retrospective study.

Echocardiographic (ECHO) findings in 211 consecutive examinations performed at Eldoret Medical Services from August 1992 to May 1994 were analysed. Most patients were referred by physicians from Eldoret and from the surrounding hospitals for assessment of heart failure or a heart murmur. Thirty three echocardiograms were judged as being normal and 177 abnormal. Of the abnormal ECHOs, congenital heart disease accounted for 38.4% while rheumatic heart disease accounted for 40.7%: Of the 68 patients with congenital defects, 21 (30.1%) had ventricular septal defects; 19 (27.9%) persistent ductus arteriosus; five (7.5%) mitral valve; four (5.9%) tetralogy of Fallot; and three (4.4%) atrial septal defects. In addition, there were two (3.0%) patients each with complete atrio-ventricular septal defects, tricuspid atresia, complete transposition of the great arteries, truncus arteriosus, single ventricle and bicuspid aortic valve. Of the 67 patients with uncomplicated rheumatic heart disease, mitral valve involvement alone was seen in 39 (58.2%), mitral and aortic in 26 (38.8%) and aortic valve alone in two (3.0%). Rheumatic heart disease was complicated by bacterial endocarditis in five patients. Nine patients had pericardial effusion. The possible role of colour-flow ECHO as a feasible, non-invasive and, in the long term, cost-effective means of allowing for early detection and timely institution of secondary prophylaxis while rheumatic heart disease is still asymptomatic is highlighted.

Adolescent↗

PubMed1978

Association of interrupted aortic arch with malformations producing reduced blood flow to the fourth aortic arches.

Interrupted aortic arch is a rare congenital malformation of the great arteries with loss of continuity between the proximal portion of the aortic arch and the descending aorta, which is usually supplied by a patent ductus arteriosus. The hearts of 12 patients with interrupted aortic arch listed in the autopsy files of The Johns Hopkins Hospital were evaluated. Four categories were identified. Seven hearts with normal outflow tract relations had significant pulmonary arterial override of a ventricular septal defect and thus recevived part of left ventricular and all of right ventricular ejection flow; flow into the aorta was correspondingly reduced. Two hearts had mitral valve obstruction with decreased left heart flow. Two hearts had double inlet left ventricle and transposed great arteries with the aorta originating from a small anterior conal chamber. One heart had a truncus malformation with a disproportionately large flow entering the pulmonary arterial division. In each of these hearts, the pattern of the outflow tracts and associated malformations suggested that there was a preferential flow of blood into the sixth arches and correspondingly a reduced flow into the fourth arches at the time of normal disappearance of components of the embryonic aortic arch system. Thus, interrupted aortic arch may simply be disappearance of the normally persisting connection between the left fourth and sixth arches as a result of flow imbalance in early cardiogenesis.

Aorta, Thoracic↗

PubMed1979

Morphogenesis of the truncus arteriosus of the chick embryo heart: tissue reorganization during septation.

Septation of the truncus arteriosus of the normal chick embryo heart was surveyed systematically with the light microscope. Tissue from replicate samples at successive periods of development was sectioned within an arbitrary coordinate system based on positional reference points along the external surface of the heart. Correlation of several aspects of tissue morphology within this spatial and temporal reference-frame yielded a new description of tissue associations and kinetics during septation. A stable complex of tissue structures appeared in the downstream, distal truncus at Stage 25 and persisted throughout the septation process. This complex consisted of (1) the cephalic margin of the myocardial sheath, and (2) the adjacent bifurcation of the vascular lumen, linked together by (3) the newly condensed Y-shaped strap of cells forming the aorticopulmonary septum. The apparent motion of this septation-complex toward the ventricle(s), the appearance within the thoracic cavity of the adjacent segments of the aortic arches, and measures of tissue length and width suggested that septation was accompanied, and perhaps initiated, by increased tension along the truncus. The truncal ridges remained upstream from the complex, with mesenchymal condensations beneath the endocardium differentiating into the definitive semilunar valves. Downstream from the bifurcation, mesenchyme in the aortic arch region condensed around the separate lumens to form the smooth muscular tunica media of the great arteries. The epicardium developed in a caudocephalic direction along the heart tube. Vagal innervation approached the heart cephalocaudally. Capillaries formed along the dividing truncus in both directions. Autoradiography following 3H-thymidine labelling demonstrated reduced DNA synthetic activity in the cephalic margin of the myocardium and aorticopulmonary septum, compared with the associated loose mesenchyme.

Animals↗

PubMed1993

Replacement of the thoracic aorta with collagen-impregnated woven Dacron grafts. Early results.

We used the collagen-impregnated woven double-velour Dacron graft in 120 patients undergoing 122 aortic reconstructions. Seventy-nine aortic root, ascending, or arch replacements were performed during cardiopulmonary bypass with or without circulatory arrest; 53 of the 79 were for acute aortic dissection. In addition, three infants and one child underwent repair of truncus arteriosus. There were no deaths caused by hemorrhage or bleeding-related complications. For aortic root replacement, the impervious nature of the collagen-impregnated woven double velour Dacron graft allowed elimination of wrap-around techniques. Eight deaths occurred as a result of multisystem organ failure, which followed late diagnosis of type A dissection. Two patients underwent reoperation for late complications of type A dissection. Thirty-nine patients underwent treatment for disease of the descending aorta; eight of these patients underwent a central cannulation technique with profound hypothermic cardiopulmonary bypass. The other 31 underwent repair with aortic crossclamping without bypass. Four of these patients died: two as a result of multisystem organ failure, one as a result of uncontrolled bleeding from the native dissected aorta, and one as a result of intestinal necrosis. Follow-up studies for 2 months to 5 years revealed three late deaths caused by the rupture of a persistent aneurysmal false lumen after type A dissection. The intraoperative advantages of the collagen-impregnated woven double velour Dacron graft represent an important advance in vascular graft technology. Its handling and suturing characteristics are excellent, and the graft is completely impervious in its originally manufactured state. Needle holes self-seal rapidly. Medium-term follow-up by clinical, angiographic, computed tomographic, and magnetic resonance imaging techniques showed no late graft complications--specifically, no dilatation or thrombus formation.

Adult↗

PubMed1974

Management of truncal valvular regurgitation.

The presence of significant truncal valvular regurgitation presents a technically difficult and life-threatening challenge during operations for correction of the truncus arteriosus anomaly. The problem was encountered in 19 of 71 patients (26%) who underwent such operations. A simple technique for managing this problem, namely, temporary cusp approximation, has evolved and has proved successful in all 11 patients in which it was used. The indications for replacement of the regurgitant truncal valve have not yet been defined. The suggestion is made that in all but the most severe instances of truncal valvular regurgitation, persistence of the regurgitation postoperatively may currently be preferable to replacement of the valve.

Adolescent↗

PubMed1999

Maternal smoking and congenital heart defects.

The Swedish Child Cardiology Registry (CCR) and the Swedish Medical Birth Registry (MBR) were used to investigate a possible association between maternal smoking during pregnancy and congenital heart defects. Among 1,413,811 infants born in 1983-1996 with known smoking exposure in early pregnancy, 3384 infants with congenital heart defects were selected (458 term infants with persistent ductus arteriosus (PDA) identified from MBR or CCR, and 2926 infants with other heart defects, identified from CCR). After controlling for year of birth, maternal age, parity, and educational level, a weak, statistically significant association between all heart defects and maternal smoking was found (odds ratio (OR): 1.09; 95% confidence interval (CI): 1.01-1.19). When infants with isolated PDA were removed from the case group the significance disappeared (OR: 1.07; 95% CI: 0.98-1.17). For truncus abnormalities (OR: 1.23; 95% CI: 1.02-1.49), atrial septal defects (OR: 1.63; 95% CI: 1.04-2.57), and PDA (OR: 1.30; 95% CI: 1.05-1.62), a rather strong effect of maternal smoking was indicated. The increased OR for PDA remained when gestational duration and intrauterine growth was also controlled for. Further research based on independent data sets is needed to conclude whether the risk estimates for maternal smoking are true and truly differ between the groups. The classification system used (with 24 classes) is described in enough detail to permit a repetition of the study.

Confounding Factors, Epidemiologic↗

PubMedDate not supplied

[Multifocal atrial tachycardia in infancy].

Four infants with multifocal atrial tachycardia are presented. They all displayed the typical ECG-findings of this particular form of supraventricular tachycardia: at least 3 different P-waves; varying atrial rate over 100 beats per minute; an isoelectric baseline between P-waves and a permanent variation of PP-, PR- and RR-intervals. One baby had a truncus arteriosus communis, the other 3 were healthy except for their rhythm disorder. In 2 of our patients, the multifocal atrial tachycardia was already present at birth, in the other 2 infants it became apparent at age 2 and 4 months respectively. Two children were asymptomatic, the other 2 had a slightly enlarged heart and some evidence of pulmonary venous congestion on chest roentgenogram. All 4 patients received digoxin. The tachycardia disappeared in 2 cases under but without definite causal relation to that treatment. In the 2 other cases the tachycardia persists in spite of treatment. Multifocal atrial tachycardia is a rare form of rhythm disturbance in infancy; it is difficult to treat but frequently resolves spontaneously within the first year of life.

Cardiac Pacing, Artificial↗

PubMed1992

Children with congenital heart disease: probability of natural survival.

The age distribution of death in all children with congenital heart disease (CHD), who died in a 27-year period in Central Bohemia (population of 1.2 million), and the data on the incidence of CHD in children born in Bohemia (population of 6.3 million) in 1980 were used to calculate the probability of survival of a child born with CHD. Eighty-six percent of these children survived to the first month of life--mostly those with pulmonary stenosis (PS, 99%), aortic stenosis (AS, 95%), ventricular septal defect (VSD, 92%), and atrioventricular septal defect (AVSD, 91%). Seventy-one percent of patients survived the first year of life--mostly those with PS (97%), AS (91%), atrial septal defect (ASD, 89%), VSD (80%), and persistent ductus arteriosus (PDA, 78%). In total, 67% of CHD patients can be expected to survive childhood. The highest survival rates were found in PS (94%), AS and ASD (84%), VSD and PDA (70-80%), and coarctation of the aorta (COA, 68%). The survival rate for the remaining forms of CHD was less than 50%. The highest mortality rate (10% of all children born with CHD) can be expected in the first postnatal week. The lowest survival in the first week was found among those with hypoplastic left heart (HLHS, 39%), double-outlet right ventricle (DORV, 50%), truncus arteriosus (TrA, 57%), pulmonary atresia (PA, 70%), and transposition of the great arteries (TGA, 83%). In addition, total anomalous pulmonary venous connection (TAPVC) and single ventricle had the highest risk of death in the first year of life.

Adolescent↗

PubMed1997

Mechanical valve in aortic position is a valid option in children and adolescents.

OBJECTIVE: The choice of a valve substitute remains a challenge in young patients, with numerous reports of early degeneration and calcification of biological valves in this age group. Therefore an assessment of the long-term results after mechanical aortic valve replacement in children was initiated. METHODS: A retrospective study was conducted in 54 consecutive patients aged 1.1 to 17 years (mean 12.8 +/- 4 years) operated on between 1975 and 1993. Aetiology was congenital in 34 patients, rheumatic in 13, infectious in 5, and dystrophic in 2. Concomitant surgery included mitral valve replacement (10), aortic annulus enlargement (9), correction of truncus arteriosus (7), Bentall operation (2), coarctation repair (2), tricuspid valvuloplasty (2), correction of double outlet right ventricle (1), and replacement of a right ventricle to pulmonary artery conduit (1). A Bjork-Shiley valve was implanted in 14 patients, and a St Jude Medical valve in 40. All patients were given Warfarin with a monthly INR control. Follow-up was completed through questionnaires mailed to referring physicians and direct clinical examination. RESULTS: Overall early mortality was 13% (7 cases), and 6% (2 cases) in the 32 patients operated on after 1984. Follow-up was complete in 45 survivors (2 lost to follow-up), with a total follow-up of 261 patient-years. There were 6 late deaths, 4 being cardiac and due to persistent LV dysfunction, and 2 valve-related, due respectively to major gastro-intestinal bleeding and massive thromboembolism. Linearized rates of valve thrombosis and anticoagulant-related hemorrhage were both 0.3% per patient-year. Actuarial survival rate was respectively 84.5% at 5 years and 70.2% at 10 years. Reoperation was necessary in 3 patients for recurrent LV outflow tract obstruction. One patient with severe LV dysfunction is awaiting a heart transplant. CONCLUSION: We conclude that the longterm outcome after mechanical aortic valve replacement in children and adolescents is satisfactory and comparable to currently available reports on biological substitutes. The mandatory anticoagulant therapy is well tolerated in this age group.

Adolescent↗

PubMed1981

Clinical and immunologic spectrum of the DiGeorge syndrome.

This report summarizes the spectrum of clinical and immunologic findings gathered prospectively in 13 patients with the DiGeorge syndrome. Our patients demonstrated marked variability in both the clinical manifestations and the degree of immunodeficiency, confirming the findings of earlier individual case reports and retrospective autopsy reviews. Ages at the time of presentation ranged from one day to 4 months. Congenital heart defects including truncus arteriosus, ventricular septal defect, interrupted aortic arch, and tetralogy of Fallot commonly brought these infants to medical attention within the first two weeks of life. Abnormal calcium homeostasis was found in all patients. Those patients presenting after the first month of life often had hypocalcemic seizures as the initial clinical manifestation. Parathyroid hormone levels and the number and location of parathyroid glands varied considerably. Immunologic evaluation revealed that total lymphocyte counts, percent T-cells, total T-cells, and T-lymphocyte function ranged from normal to severely depressed. The most consistent immunologic abnormality, found in 11 of the 13 patients, was a decrease in total T-cells. Sequential studies in five patients demonstrate that spontaneous resolution of immunodeficiency may occur in some, yet progressive loss of immune function may be observed in others. Complete immunologic evaluation and careful followup is mandatory in infants with persistent hypocalcemia and congenital heart disease who are suspected to have DiGeorge syndrome.

B-Lymphocytes↗