Polysplenia and situs inversus in siblings. Case reports.

Heterotaxy syndromes, otherwise laterality defects, are variations from anatomic left-right asymmetry. Situs inversus is the complete reversal of the normal situs, still situs ambiguus is the randomisation of the normal organ position. Situs ambiguus may be manifested as asplenia or polysplenia syndrome. Normal situs and both types of the heterotaxy syndromes may appear among some affected families, whereas the different situs are rarely expressed in the same family. We describe an autosomal-recessive inherited familial heterotaxy syndrome with two affected siblings - one of whom has situs inversus, and the other with polysplenia syndrome. The polysplenia syndrome was diagnosed by fetal echocardiography. Since the chromosomal or molecular diagnosis of laterality defects are accessible only in X-linked heterotaxy syndromes, the fetal echocardiography is the earliest available diagnostic method in this field. Therefore, fetal echocardiography has great importance for affected families.

[Familial heterotaxy syndrome. Case report and review of the international literature]. / Heterotaxia szindrómák familiáris jelentkezése. Esetismertetés és a nemzetközi irodalom áttekintése.

The authors report two families with two affected siblings of heterotaxy syndrome. Ivemark syndrome with asplenia and complex cardiovascular malformation occurred in two siblings of the first family. The first affected sibling in the second family had situs inversus, transposition of the great arteries with spleen on the right side of the abdomen. Ivemark syndrome with polysplenia and cardiovascular malformation were present in the second affected sibling of the second family. Autosomal recessive inheritance of Ivemark syndrome was reported in the most of the cases, but there are several cases of autosomal dominant inherited Ivemark syndrome. X-linked inheritance of heterotaxy syndrome is also known. Heterotaxy syndromes could also occurred in chromosomal translocation or deletion in sporadic cases. The molecular genetic studies were not able to find the mutation responsible for heterotaxy syndrome. The diagnosis of heterotaxy syndrome could be made by foetal echocardiography until molecular genetic methods are available. Therefore, in the case of positive anamnesis, foetal echocardiography on the 18-20 weeks of gestation is essential diagnostic method.

Fetal hydropericardium associated with left ventricular diverticulum.

Fetal pericardial effusion usually develops because of fetal heart failure, infections, chromosomal abnormalities, fetal anaemia, intracardiac or extracardiac tumours. There is only one case in the literature of isolated hydropericardium associated with left ventricular diverticulum and here we report another.

[Fetal atrioventricular septal defect associated with Patau and Edwards syndromes, as well as trisomy 22]. / Magzati atrioventricularis septumdefektus társulása Patau- és Edwards-szindrómával, valamint 22-es trisomiával.

The atrioventricular septal defect is usually associated with trisomy 21 and it may be observed in the heterotaxia syndromes. Atrioventricular septal defect may be associated with 8p deletion. There are reported cases of familial atrioventricular septal defect. Atrioventicular septal defect is rarely associated with other chromosomal abnormalities. We are reporting three unusual cases of atrioventricular septal defect that were associated with trisomy 13, 18 and 22. This association may be due to effect of genetic loci on the 13, 18 and 22 chromosome which could play the role in the development and fusion of endocardial cushion and atrioventricular septal defect.

[Prenatal diagnosis of tricuspid atresia]. / A tricuspidalis atresia praenatalis diagnosztikája.

Tricuspid atresia is the third most common cyanotic cardiac malformation, seen in 1 per cent of children with congenital heart disease. It occurs in 4-5 per cent of congenital heart defects diagnosed prenatally, this difference is a consequence of a high percentage of intrauterine death these severely ill fetuses. Initial surgical treatment is palliation, usually with aortopulmonary shunt. Definitive treatment is the Fontan operation, when the systemic venous return is connected directly to the pulmonary tree. Five-year survival for liveborn patients is 50, but for prenatally diagnosed fetuses only 20%. In Hungary there is only a few survivor. Authors have diagnosed 20 tricuspid atresias during a five-year period by fetal echocardiography. In two cases the postnatal findings were: normal tricuspid valves, univentricular atrio-ventricular connection and stenosis of the pulmonary artery, in one case dysplastic tricuspid valves, hypoplastic right ventricle and stenosis of the pulmonary artery. Authors summarise their experiences with prenatal echocardiography of tricuspid atresia and describe characteristic signs could be found by routine ultrasound screening of this severe cardiac malformation.

[Severe left heart developmental disorder and severe fetal arrhythmia in the same family--a coincidental association?]. / Súlyos bal szívfél fejlödési rendellenesség és súlyos magzati arrhythmia egyazon családban--véletlen társulás?

The etiology, pathogenesis and risk for inheritance of congenital heart abnormalities are important questions. The development of fetal echocardiography and fetopathology helped in examination of this problem. Between September 1992 and June 1997 there were found four families where one member of the family had hypoplastic left heart syndrome and other member sustained fetal arrhythmia. The familiarity of hypoplastic left heart syndrome and some special forms of arrhythmias are well known. The reported familial association of these two abnormalities which in the first in the literature, may have a possibility that a sustained ectopic atrial arrhythmias are as severe risk factors for left heart abnormalities as other left heart abnormalities are.

[Prenatal diagnosis of atrioventricular septal defect and its prognostic significance]. / Az atrioventricularis septumdefectus praenatalis diagnosztikája és prognosztikus jelentösége.

Atrioventricular septal defect also known as endocardial cushion defect is severe congenital heart disease which is often associated with chromosomal abnormalities (30-50%) or is a part of a malformation syndrome (30%). Between 1, october 1992, and 30, september 1996. 21 cases were diagnosed prenatally. The chromosomal analysis found in 1 case trisomy 18, in 1 case trisomy 22 and in 7 cases trisomy 21. In 7 cases atrioventricular septal defect was part of Ivemark syndrome, none of them had chromosomal abnormality, except 1, who had trisomy 18. Out of 21 cases there was only one survivor. None of cases associated with Ivemark syndrome survived. In 4 cases sibs or parents had congenital heart disease. Four mother were above 40 years. The report summarises the most important abnormalities in the prenatal diagnosis of endocardial cushion defect and echocardiographic and embryopathologic foundings.

[Management of hemodynamically significant fetal arrhythmias]. / Hemodinamikailag jelentös magzati ritmuszavarok kezelése.

Between January 1, 1993, and April 30, 1996, authors treated 23 fetuses with severe rhythm disturbances in their Department. The correct diagnosis was made by fetal echocardiography. They had 15 tachyarrhythmic and 8 bradyarrhythmic patients. They found hydrops fetus at 7 patients because of atrial flutter (2 fetuses), supraventricular tachycardia (4 fetuses) and severe bradycardia (1 fetus). They treated successfully 13 patients with antiarrhythmic therapy given to the mother. They had 1 intrauterine death (treated because of bradycardia) and 1 neonatal death (hydropic because of supraventricular tachycardia). The causes of severe bradycardia were maternal antibody (3 fetuses), cardiac malformation (3 fetuses) and large number of blocked atrial extrasystoles. The prognosis of fetal tachycardia is good even in cases of fetal hydrops. The prognosis of bradycardia due to heart abnormalities is poor.

Ivemark syndrome with asplenia in siblings.

We describe two siblings with Ivemark syndrome. In both cases, absent spleen, symmetric liver, and lungs with three lobes were associated with complex cardiac malformation. The syndrome was diagnosed prenatally in the second case by fetal echocardiography at the twentieth week of pregnancy. The autosomal recessive mode of inheritance of Ivemark syndrome is further supported by these cases.