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Ultrastructurally normal and motile spermatozoa in a fertile man with Kartagener's syndrome.

The findings in a 40-year-old man with Kartagener's triad (sinusitis, bronchiectasis, and situs inversus) and corrected transposition of the great vessels are presented. Electron microscopy revealed normal ultrastructure of the axoneme in both respiratory cilia and sperm tails. Light microscopic evaluation of the spermatozoa showed 50 percent motility, suggesting normal fertility. This assumption is confirmed, as the patient has two children. We suggest that an abnormal, uncoordinated motility pattern of the ultrastructurally normal respiratory cilia results in improper mucociliary clearance. This coordination is not needed in swimming spermatozoa, which could explain the apparent paradox between bronchopulmonary symptoms and normal fertility in our patient.

Adult↗

Epidemiological characteristics of congenital heart diseases in Londrina, Paraná south Brazil.

OBJECTIVE: To determine the prevalence and other epidemiological characteristics of congenital heart diseases. METHODS: A retrospective population based study of children who were born in Londrina, from January '89 to December '98 (80,262 live births). Diagnoses were confirmed through autopsy, surgery, catheterization, or echocardiography. RESULTS: A total of 441 patients was as certain what corresponds to a prevalence of 5.494:1,000 live births. Ventricular septal defect was the commonest lesion. A small number of transpositions of the great vessels and of left ventricular hypoplasia was observed. A high propation of ventricular septal defect (28.3%) and atrioventricular septal defects (8.1%) occurred. Fifty-one (11.35%) affected children had syndromic diseases and 52 (12.01%) children had nonsyndromic anomalies. CONCLUSION: The prevalence of congenital heart diseases in Londrina is in accordance with that of other regions of the globe. This prevalence also may reflect the reality in the southern region of Brazil, because population characteristics are very similar in the 3 southernmost Brazilian states.

Brazil↗

Obstruction of the airway by the aorta: an observation in infants with congenital heart disease.

Obstruction of the airway by a dilated aorta was observed in four infants who had complex congenital heart defects as follows: two infants had a tetralogy of Fallot and pulmonary atresia; one infant had a truncus arteriosus type 1 and small branched pulmonary arteries; and one infant had a dextroversion of the heart with a right aortic arch, single atrium, single ventricle, transposition of the great vessels, and severe subpulmonic obstruction. In addition to the extrinsic compression of the airway by the large aorta, intrinsic anomalies of the trachea and at times the main bronchi were observed at autopsy in three of the four infants. The compression of the trachea is readily apparent on lateral radiographs of the chest.

Airway Obstruction↗

Brain abscess in congenital cyanotic heart disease.

Sixty-two cases of brain abscess with congenital cyanotic heart disease are reviewed. A sharp peak in the age distribution was seen at 4 to 7 years of age. Of 62 cases, 38 (61.2%) had a tetralogy of Fallot, and six had a transposition of the great vessels. The majority of these abscesses were supratentorial and 76% of abscesses were found in the frontal, temporal, and parietal lobes. Multiple abscesses were present in 19.4% of cases. Sterile cultures were obtained in 61% of the abscesses, and the increasing percentage of sterile cultures seems to be the result of broad-spectrum antibiotic therapy. The overall mortality rate was 37% but there were no deaths after surgical excision secondary to aspiration. Since the introduction of computerized tomography, aspiration without total excision has produced good results, and therefore it is believed that the number of cases which are cured with aspiration therapy alone will gradually increase in the future.

Adolescent↗

Congenital extracardial malformations accompanying congenital heart disease.

A statistical review of 1,354 autopsies performed in cases of congenital heart disease in three major Italian hospitals was carried out. In 446 cases one or more extracardial malformations were found; those most commonly encountered were malformations of the urinary tract, anomalies of the respiratory tract, malformations of the intestine and spleen and trisomy 21. Ventricular septal defects and persistent common atrioventricular canals occurred in a higher percentage of cases with extracardial malformations than in those where congenital heart defects were the only malformations. The reverse was true of endocardial fibroelastosis and transposition of the great vessels. Ventricular septal defects are particularly common in the Klippel-Feil syndrome, in trisomy 18 and, together with a persistent common atrioventricular canal and atrial septal defects, in trisomy 21. The typical picture of so-called "congenital heart disease associated with asplenia" was found in cases with splenic agenesis, either with or without situs inversus viscerum, but also in cases with situs inversus viscerum without asplenia.

Abnormalities, Multiple↗

[The best of pediatric cardiology in 1999].

Paediatric cardiology is a dynamic field of progress for results. Those which have marked the year 1999 include the introduction of new techniques of cardiovascular imaging and interventional cardiology, and the new consequences of collaboration with workers in foetal cardiology and medical and molecular genetics. The advances in imaging are the result of those of microprocessors which enable three-dimensional reconstruction of ultrasonic, radiological or magnetic resonance images. This provides intracardiac or intravascular views which are very similar to those seen by the surgeon. This is a major tool for improving the diagnosis and treatment of congenital heart disease. Similarly, the introduction of programmes of tissue recognition enables fine ultrasonic analysis of the vascular wall and of endothelial function leading to the opening of a new chapter of preventive vascular medicine from the earliest age. Paediatric interventional cardiology has also progressed rapidly and the past year has been that of a consensus on the closure of a great number of atrial septal defects by new prostheses implanted and anchored in a simpler and safer manner. Prenatal diagnosis has become a crucial factor in the treatment and prognosis of congenital heart disease which is life-threatening in the first hours of life, explaining the benefit when this is applied to transposition of the great vessels or to coarctation of the aorta. Finally, advances in genetics have led to the identification of several genes of heart malformations and the correlations between interstitial microdeletions and syndromes often associated with heart disease: chromosome 22q11 and the Di George syndrome, chromosome 7q and the Williams syndrome. They have even allowed linking of myocardial and cerebellar abnormalities of a degenerative neuropathy (Friedreich's disease) to an abnormality of the mitochondrial respiratory chain, thus giving the opportunity of a real treatment.

Cardiology↗

[Ventricular tachycardia inducible in a patient with recurrent syncope after Senning operation].

A 17 year old man with transposition of the great vessels who had two episodes of late recurrent syncope following Senning repair 2 months before hospital registration. One episode required basic cardiopulmonary reanimation. Holter monitoring documented isolated polytopic and coupled ventricular extrasystoles. Programmed left ventricular pacing induced polymorphous ventricular tachycardia, which converted to monomorphic sustained ventricular tachycardia after intravenous procainamide. A cardioverter defibrillator was implanted in left ventricle by intravenous approach. Twelve months later the patient presented an episode of polymorphic ventricular tachycardia and one appropriate therapy from the defibrillator discharge was done.

Adolescent↗

Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst.

Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia. Both newborns had complex cardiac defects with isomerism of the lungs. The newborn with asplenia had dextrocardia, transposition of the great vessels, stenosis of the pulmonary artery, common atrioventricular canal and patent ductus arteriosus. The newborn with polysplenia had a common atrium, hypoplastic left ventricle and patent ductus arteriosus. The patient with asplenia had cystic dilated collecting ducts of the kidney and the patient with polysplenia had cerebellar cyst. These associate malformations have not been reported previously. Both cases were sporadic.

Abnormalities, Multiple↗

[The treatment of postoperative junctional ectopic tachycardia].

OBJECTIVE: To evaluate treatment of junctional ectopic tachycardia after cardiac surgery. MATERIAL AND METHODS: Twenty-seven patients (5.5 % of 488 patients who underwent surgery) were treated for junctional ectopic tachycardia between 1994 and 1998. There were 14 boys and 13 girls with a mean age of 11 11 months. Seven suffered from tetralogy of Fallot, seven from ventricular septal defect, six from atrioventricular septal defect, three from transposition of the great vessels and the remaining four had other complex heart diseases. The mean initial frequency was 186 27 beats/min. Crystalloid cardioplegia was applied in 274 patients (1994-1996) and 20 patients (7.4 %) showed junctional ectopic tachycardia. Hematic cardioplegia was performed in 214 patients (1997-1998) and seven patients (3.2 %) developed junctional ectopic tachycardia. Of the 33 patients who were treated during the surgical procedure with high mean doses of sympathomimetic catecholamine agents, 27 (81 %) developed tachycardia. Tachycardia developed 8.24 7 hours after surgery (range: 1-24 hours) in 25 patients and after 4 and 5 days in the remaining two patients. The mean duration of tachycardia was 4 days. RESULTS: In all patients rectal temperature was reduced to 32-34 C. Nineteen patients (70 %) showed a quick response (1-2 hours), although the technique was effective as an isolated procedure in only one patient. Sympathomimetic catecholamine level was reduced to 2-5 g/kg/min in 20 patients but this was effective in 14 (70 %). In 15 patients intravenous amiodarone was also administered and was effective in 11 patients (73 %). Finally, intravenous propafenone was administered to 5 patients. The most effective treatments were hypothermia with reduction of sympathomimetic catecholamine levels in 7 patients (100 %) or intravenous amiodarone in 4 (80 %). Tachycardia led to low cardiac output in 10 patients and only four recovered normal sinus rhythm. Eight patients died. Of these, hemorrhage in the junction area was confirmed in six patients. CONCLUSIONS: Junctional ectopic tachycardia is favored by high levels of sympathomimetic catecholamines after surgery. On the other hand, myocardial protection with hematic cardioplegia reduces tachycardia. Moderate hypothermia with reduction of sympathomimetic agents or intravenous amiodarone reverses ectopic tachycardia.

Amiodarone↗

Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.

Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.

Abnormalities, Multiple↗

[Pregnancy and congenital heart disease].

Congenital cardiopathies currently represent the majority of cardiac anomalies observed during pregnancy. The latter leads to significant haemodynamic modifications which can sometimes be poorly tolerated in the case of severe cardiopathy. However, as a rule pregnancy is generally well supported if the functional state of the patient beforehand is satisfactory (class I or II of the NYHA). The type of cardiopathy also plays a role. Left-right shunts tolerate pregnancy well in most cases. On the other hand severe aortic stenoses expose serious complications. Above all it is the cyanogenic cardiopathies which are poorly tolerated by the mother and the fetus, and more so the lower the oxygen saturation. Eisenmenger's syndrome causes a major risk to life for the young mother and is a formal contra-indication to pregnancy, as is pulmonary arterial hypertension. Patients with a Fontan anastomosis or an intra-atrial repair of transposition of the great vessels can support pregnancy very well if the systemic ventricle has good function. In Marfan's syndrome the aortic diameter is the essential prognostic element. In most congenital cardiopathies pregnancy nevertheless has a favourable outcome for the mother and infant. Vaginal delivery should be the rule. A close cardio-obstetric collaboration is the principal condition to allow the young cardiac female to well endure a pregnancy.

Adult↗

Postcranial morphological features of homozygous tetraploid mouse embryos.

The postcranial morphological features of 22 homozygous tetraploid mouse embryos were studied. The latter were produced by electrofusion of blastomeres at the 2-cell stage in vitro, and were transferred to appropriate recipients that were autopsied on d 12-16 of gestation. Seven embryos were isolated on d 15 or d 16 of gestation and were developmentally equivalent to control diploid embryos of 13-14.5 d p.c. In each of these embryos, their sex could be determined from the histological analysis of their gonads. A further 15 embryos were isolated on d 12-14 of gestation and most were developmentally equivalent to controls of between 11-11.5 and 12-12.5 d p.c. The sex of these embryos could not be determined from the analysis of their gonads, as these were all at the 'indifferent' stage. Twelve of the 22 embryos had a normal postcranial axial morphology, while 10 had an abnormal postcranial axial morphology associated with an enormous omphalocele which contained most of the abdominal viscera and often, particularly in the more advanced specimens, the heart as well. In each of the 7 developmentally most advanced embryos studied, a major congenital abnormality involving at least one organ system was present, but none of these was believed to be life-threatening. The most interesting finding was that 3 of these embryos had abnormalities of the aortic arch arterial system; in 2 embryos the arch of the aorta was retro-oesophageal and retrotracheal, while a 3rd embryo had transposition of the great vessels associated with a right-sided descending aorta. In a 4th embryo, an aneurysmal dilatation of the posterior cardinal vein was present, and this was associated with the anomalous persistence of the left subcardinal/supracardinal venous system. These abnormalities represent a degree of mirror imaging of the normal vascular arrangement. Analysis of the gonads revealed that all of the embryos with vascular abnormalities in this group were male (XXYY), and no vascular abnormalities were present in the females (XXXX). The histological features of the viscera were normal. In 5 of the 15 developmentally less advanced embryos, the distal part of the bulbus cordis region of the heart was displaced medially, and consequently the outflow tract was located on the left part of the pericardial cavity rather than on the right where it is normally found. This may represent an early stage in the differentiation of the aortic arch arterial vascular anomalies indicated above. In 2 additional embryos, abnormally located (i.e. retro-oesophageal) innominate vessels were present.(ABSTRACT TRUNCATED AT 400 WORDS)

Abdomen↗

[Criss-cross heart: anesthetic considerations for total cavopulmonary shunt (Fontan procedure)].

We report the anesthetic technique used for interatrial septal defect a 2-year-old girl weighing 11 Kg who presented with crossed atrioventricular connection (criss-cross heart), transposition of the great vessels, interatrial and interventricular septal defects, and subpulmonary and pulmonary valve stenoses. The patient was proposed for total cavopulmonary anastomosis with basal arterial oxygen saturation (SapO2) at 65%. Anesthesia was induced with inhaled agents and after intubation, hyperventilation was induced to achieve an end-tidal carbon dioxide pressure around 27 mm Hg. General anesthesia was provided in combination with spinal infusion of morphine chloride (100 microg Kg(-1)) for pain control. A Fontan procedure was carried out uneventfully with cardiopulmonary bypass. Milrinone was used at the extracorporeal circuit pump outlet. The patient was transferred to the pediatric intensive care unit where she was extubated without complications 90 minutes after admission. Anesthetic management is based on maintaining adequate preloading doses by administering volume, inhaled and/or intravenous agents, or use of vasoconstrictors and adjustment of ventilator parameters to modify pulmonary or systemic vascular resistance. We were able to maintain normal arterial pressure in our patient and provide adequate preloading through hyperventilation to reduce pulmonary vascular resistance.

Anesthesia↗

[Nuclear magnetic resonance in congenital cardiopathies in adults].

Magnetic resonance imaging is a newly developed diagnostic technique recently used for the study of the cardiovascular system. One of the most promising fields of application for magnetic resonance is the study of congenital heart diseases. Since it offers high contrast and resolution tomographic images of the heart, this technique appears particularly suitable for the anatomic assessment of cardiovascular malformations. In order to evaluate the potential of magnetic resonance imaging in the evaluation of congenital heart diseases, we reviewed 21 cases of cardiac malformations (age: 9-81, mean: 48 +/- 23). Two dimensional echo-cardiography was performed on all of them. Out of the 21 patients, 13 were imaged to confirm previous diagnoses based on echocardiographic (8) or angiographic (5) data. Four more patients underwent a cardiac angiography after the magnetic resonance study. The remaining eight patients were imaged due to a poor echocardiographic examination (4) and for other reasons (4). Eight patients had an atrial septal defect, 1 had a patent foramen ovale, 2 had a ventricular septal defect, 1 had a corrected transposition of the great vessels, 2 had an aortic coarctation, 2 had a developmental venous abnormality, 5 had different congenital diseases of the aorta or of the pulmonary valve or artery. Image quality was optimal in 18 out of the 21 patients studied (85.7%). In the remaining 3 subjects image quality enabled a diagnosis. In all patients magnetic resonance imaging correctly depicted the cardiac malformation and in some cases furnished data on the severity of the disease. In 9 cases (4 atrial septal defects, 2 developmental venous abnormalities, 2 aortic aneurysms, 1 right pulmonary artery atresia) magnetic resonance imaging provided the diagnosis. These data indicate that magnetic resonance imaging may represent an important non-invasive diagnostic tool capable of offering valuable information on adult patients with suspected congenital heart disease. It is also possible to foresee that this technique will play an outstanding role as a non invasive alternative imaging technique whenever echocardiography cannot be performed is not satisfactory. Furthermore, magnetic resonance imaging should be considered a major diagnostic technique to be used for the anatomic study of the heart prior to resorting to angiography.

Adolescent↗

[Atypical heart transplantation. Technical considerations. Apropos of a case].

A heterotopic heart transplantation was performed on a patient placed on circulatory assistance with a Biomedicus pump for ten days using a heart taken from a donor with situs inversus. In relation to this case, the authors describe the technical procedures allowing transplantation of a heart obtained from a donor with situs inversus into a heterotopic position and an orthotopic position or a normal heart in a recipient with situs inversus. Lastly, in the case of complex cardiac malformations with preservation of the lungs, they present the procedures allowing heart transplantation in cases of situs incertus, anomalies of venous return and transposition of the great vessels.

Adult↗

New developments in cardiothoracic surgery.

New and innovative developments in cardiothoracic surgery include the pulmonary effects of certain inotropic drugs, the role of patent ductus closure in neonatal respiratory distress syndrome, the use of immunostimulating agents as adjuvants in the treatment of cancer of the lung, ingenious operative procedures to correct transposition of the great vessels and aortic stenosis, and improved methods to protect and assist the heart during cardiac operations.

Assisted Circulation↗

[Surgical treatment of coarctation of the aorta in the infant less than a year old].

Between 1972 and 1984, 141 infants of less than 12 months of age were operated upon for coarctation of the aorta. The abnormality was isolated in 41 cases (29 p. 100) and associated with ventricular septal defect (VSD) in 58 cases (41 p. 100), with transposition of the great vessels with or without VSD in 16 cases (11.3 p. 100), with cardiac valve disease with or without VSD in 11 cases (7.8 p. 100) or with miscellaneous intracardiac lesions in 15 cases (10.6 p. 100). Resection-anastomosis (Crafoord) was performed in 89 cases (63 p. 100), subclavian flap aortoplasty (Waldhausen) in 36 cases (26 p. 100) and dacron aortoplasty in 16 cases (11 p. 100). Cerclage of the pulmonary artery was combined with one or another of these operations in 65 cases (46 p. 100). Twenty-five patients (17.5 p. 100) died within 30 days of the operation, and 28 patients (24.7 p. 100 of those who survived surgery) died at a later stage. Three infants were lost sight of. Follow-ups ranged from 1 to 13 years (mean: 4.01 years). Fifteen infants (13.3 p. 100 of those who survived surgery) were reoperated upon for recurrence of the coarctation. Four infants (3.5 p. 100) now present with clinical signs of recoarctation and are awaiting treatment.

Actuarial Analysis↗

[Congenital heart defects. Frequency at autopsy].

Autopsies were performed on 3,071 stillborns and decreased children up to the age of 16 years at the Institute of Pathology of the Charité from 1969 to 1983. Congenital heart disease (CHD) was found in 814, i.e. 26.5% of the autopsies. Results of re-examination of 642 hearts with CHD are discussed. The most common malformations are ventricular septal defects, d-transpositions of the great vessels, tetralogy of Fallot and aortic coarctations. CHD was more frequently found in boys than in girls (1.5 : 1). The majority of the deaths occurred during the first year of life (78.8%). 20.1% of these took place during the perinatal period and 47.2% within the first 6 months of life. Additional cardiac anomalies were associated with the main defect in 81.8% of cases. The most common such associated defects were atrial and ventricular septal defects, aortic coarctations and other aortic arch anomalies. The frequency of extracardiac malformations in CHD was 7.2%. The most common anomalies were of the central nervous system, the gastrointestinal tract and the urinary system. Malformation syndromes were identified in 5.6% of the CHD cases, including Down's syndrome in 1.4%.

Adolescent↗