Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex ligation-dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high-throughput method for the diagnosis of 22q11.2 deletion syndrome.

Masa auricular derecha móvil e insuficiencia tricúspide / Mobile right atrial mass and tricuspid insufficiency

Los principales diagnósticos diferenciales que se plantean ante el hallazgo de una masa intracardíaca móvil en la infancia son los trombos, las vegetaciones y los tumores. Las manifestaciones clínicas que pueden darse en estos pacientes son diversas e incluyen soplos, cianosis central, arritmias, dolor torácico, síncope, fiebre e insuficiencia cardíaca. Presentamos el caso de una niña de 19 meses de edad, asintomática desde el punto de vista cardiovascular, en la que tras auscultarse un soplo protosistólico en borde esternal izquierdo, se realizó un ecocardiograma que mostró insuficiencia tricúspide y una masa auricular derecha móvil cuyas características típicas nos dieron el diagnóstico (AU)

[Thyroid function alterations in children with congenital cardiac disease after catheterization with iodinated contrast agents]. / Alteraciones de la función tiroidea en niños con cardiopatía congénita tras la realización de cateterismo con contrastes yodados.

INTRODUCTION AND OBJECTIVES: Iodinated contrast agents can block thyroid hormone synthesis. The aims of this study were: 1st) to study the incidence of thyroid function disturbances in children with congenital heart disease after cardiac catheterization, 2nd) to analyze the predisposing factors that may lead to the development of hypothyroidism after angiography, and 3rd) to determine the duration of these hypothyroidism states. PATIENTS AND METHODS: From february 1993 to April 1997 thyrotropine (TSH) and free thyroxine (FT4) serum values were analyzed before cardiac catheterization and in the two following weeks, in 99 children under three years of age, with congenital cardiac disease. Those patients who showed any postangiography increase in TSH were further evaluated by weekly measures of serum thyroid hormones and TSH until normal values were obtained or until the initiation of hormonal replacement therapy. The patients' data (age, previous exposure to contrast agents, cardiac disease, associated extracardiac malformations, renal failure, severity of illness, treatment) and the catheterism data (the dose and type of contrast and the fluoroscopy time) were included in the univariant analysis. RESULTS: 10 mUI/ml), that persisted beyond three weeks in six cases. The occurrence of multiple malformation syndromes was the most clearly associated risk factor (p < 0,01) not only in the development of postangiography hypothyroidism but also in longer hormonal dysfunction. CONCLUSIONS: Thyroid function should be tested in every patient with multiple malformation syndrome that undergo angiocardiography with iodinated contrast agents.

Cardiac tamponade after a systemic-pulmonary shunt complicated by serous leakage.

A newborn baby with complex congenital heart disease had severe persistent pericardial effusion after a systemic-pulmonary shunt. Pericardiocentesis and pericardiotomy could not stop pericardial leakage. At reoperation, topical application of a fibrin glue resulted in resolution of the leak and avoided replacement of the graft.

Multiple organ involvement in perinatal asphyxia.

OBJECTIVES: (1) To evaluate the frequency and spectrum of severity of multisystem dysfunction after perinatal asphyxia and (2) to analyze the relationship between the clinical and biochemical markers of perinatal asphyxia and multiorgan involvement. STUDY DESIGN: Seventy-two consecutive term newborn infants with perinatal asphyxia were studied prospectively. Systematic neurologic, renal, pulmonary, cardiac, and gastrointestinal evaluations were performed. Involvement of each organ was classified as moderate or severe. RESULTS: Involvement of one or more organs occurred in 82% of the infants; the central nervous system (CNS) was most frequently involved (72%). Severe CNS injury (7 infants) always occurred with involvement of other organs, although moderate CNS involvement was isolated in 14 infants. Renal involvement occurred in 42%, pulmonary in 26%, cardiac in 29%, and gastrointestinal in 29% of the infants; 15% neonates had renal failure and 19% had respiratory failure. The Apgar scores at 1 and 5 minutes were the only perinatal factors related to the number of organs involved and the severity of involvement; the Apgar score at 5 minutes had the stronger independent association. No relationship or organ dysfunction was found with the umbilical cord arterial blood pH, meconium-stained amniotic fluid, umbilical cord abnormalities, presentation, or type of delivery. CONCLUSIONS: Our findings indicate that the Apgar score at 5 minutes, in infants who have other criteria for asphyxia, is the perinatal marker that may best identify infants at risk of organ dysfunction.

Complete atrioventricular canal. Anatomic study and presentation of a new technique for total correction.

A new surgical technique for total correction of complete common atrioventricular canal was evolved from study of 34 specimens from affected infants who had died in the first year of life. An interventricular patch was fashioned to reconstruct the interventricular septum and the atrioventricular valves. The patch had two distinct components, one superior or atrial and the other inferior or ventricular. The division was made by inserting a lateral support at different levels on either face of the patch, to which the anterior and posterior atrioventricular cusps were sutured. The interatrial defect was closed with a patch that, together with the atrial component of the interventricular patch, produced a foramen ovale type closure mechanism. The authors present the pathologic observations which served as a basis for development of the surgical technique.

Extraatrial interatrial duct and reestablishment of aortopulmonary communication by enlarging the aortic arch. Experimental development of two surgical techniques for hypoplastic left heart syndrome palliation without extracorporeal circulation.

A new surgical procedure is presented for palliation of hypoplastic left heart syndrome. The first palliative technique consists of creation of an extraatrial interatrial duct and the second, reestablishment of the aortopulmonary communication by enlarging the aortic arch with a "conduit patch". Both procedures avoid having to clamp small systemic vessels and pulmonary veins and extracorporeal circulation is not needed. Extraatrial interatrial ducts were created in 10 dogs and the effectiveness of the procedure was evaluated. Reestablishment of the aorto-pulmonary communication and enlargement of the aortic arch was done in 7 specimens from patients with hypoplastic left heart syndrome who had died in the first hours of life and in 8 dogs. The surgical procedures, their advantages and the results obtained are described.

Cardiac rhabdomyoma presenting as fetal hydrops.

Fetal hydrops and possible congenital heart disease with atrioventricular block was diagnosed one day before birth in a male infant of 35 weeks' gestation. Echocardiography and angiocardiography soon after birth revealed a cardiac tumor. The child died three days after birth. Necropsy showed tuberous sclerosis involving the heart (type-I rhabdomyoma), kidneys, retina, and central nervous system.

[Right cervical aortic arch: report of 2 cases, one associated with aortic coarctation]. / Arco aórtico cervical derecho: aportación de dos casos, uno asociado a coartación aórtica.

Cervical aortic arch is a rare congenital vascular anomaly. Usually it appears as an asymptomatic pulsatile cervical mass, but symptoms of tracheal and esophageal compression may be present in 25% of the patients. About 40% of cases are associated with vascular or heart abnormalities. Angiography provides definitive diagnosis. Authors report two patients with right cervical aortic arch, one of them associated with aortic coarctation, and review 52 published cases.

Management of patent ductus arteriosus in preterm babies.

There is a higher incidence of delayed closure of the patent ductus arteriosus in premature babies with respiratory distress syndrome. From July, 1975, to December, 1977, 57 small, preterm infants with patent ductus arteriosus were diagnosed at our neonatal intensive care unit. From July, 1975, until September, 1976 (first period), 23 patients were diagnosed, and 11 underwent surgical ligation of a patent ductus arteriosus. There were 3 early deaths. From October, 1976, until December, 1977, out of a total of 34 patients with diagnosed patent ductus, 18 were treated with indomethacin, and only 3 required ligation. Our present policy for patent ductus arteriosus with respiratory distress syndrome in the premature baby is to initiate early treatment with indomethacin. If this treatment fails and the infant's status deteriorates, we perform early surgical ligation of the ductus in order to minimize the time on mechanical ventilation and lessen the chances of the development of bronchopulmonary dysplasia.

Familial hypertrophic cardiomyopathy with unusual involvement of the right ventricle.

4 cases of familial hypertrophic cardiomyopathy are reported. In all of them, the onset of symptoms occurred before the 8th mth of life, and were characterized by severe right cardiac failure. In 3 cases the catheterization revealed significant decrease in right ventricular compliance and severe reduction of its cavity. The pathological studies were consistent with hypertrophic cardiomyopathy with predominant involvement of the right ventricle. The pedigree disclosed a Mendelian autosomal recessive type of inheritance.

Aorticopulmonary window associated with tetralogy of Fallot. Report of one case and review of the literature.

A case of aorticopulmonary window associated with tetralogy of Fallot is reported with its clinical, hemodynamic, angiocardiographic, surgical, and necropsy findings. The difficulty in diagnosing a tetralogy of Fallot in the presence of a large aorticopulmonary shunt is emphasized. It is also noted that the only means of discovering the infundibular stenosis of the right ventricle is by angiocardiographic study of the right ventricular outflow tract. The difficulty in distinguishing truncus arteriosus from an aorticopulmonary window coexisting with a ventricular septal defect is discussed, and it is pointed out that the only means of differentiating these two anomalies is the angiocardiographic finding of two sigmoid valves. An embryological hypothesis concerning the pathogenesis of this association is also discussed.