Familial congenital heart disease: how are the various types related?

The distribution of congenital heart lesions was studied in 238 families with at least 2 affected members. A statistical analysis was performed. Concordant lesions were found in 48% of the affected first degree relatives and in 28% of the affected second and third degree relatives. The concordance rate is highly significant for all lesions studied in the first degree relatives, with the exception of ventricular septal defect (VSD). Among the discordant pairs of lesions, some occur significantly more often than expected (tetralogy of Fallot associated with VSD, pulmonary stenosis, and transposition of the great arteries); others, such as the association between VSD and pulmonary stenosis, are significantly less common than would be expected on a random hypothesis. An explanation is proposed suggesting that malformations anatomically dissimilar but resulting from the same heart segment disorder may have some common genes, and that interaction between genes may be responsible for "antagonism" between 2 defects. The embryologic segmental approach to congenital heart disease is reinforced by this genetic study.

[Myocardium-cardiac jelly dissociation and conal torsion. A study on the chick embryo heart]. / Dissociation myocarde - gelée cardiaque et torsions conales. Etude sur le coeur d'embryon de poulet.

Conal twisting seems to result from dissociation between the cardiac jelly and the deep myocardial interface like the lining in the sleeve of a jacket. The conal ridges are the natural markers of the jelly and endocardium. They are responsible for septation of the conus and enable the twisting to be observed and measured. The myocardium is marked artificially by cauterisation. This marks the armature of the wall and leaves behind a zone of reduced resistance in the form of a hernia or false diverticulum. The conal ridges and marked myocardium dissociate. In the mid segment the myocardium does not play any role in twisting. In the proximal and distal segments it is only partially involved. This dissociation is observed even in the structure of the conal wall; the jelly, which is dense near the endocardium, is loose near the myocardium and adheres to the deep surface by dispersed fibres. Perfusion under pressure of the investigated specimens induces a detachment between the jelly and the myocardium and there only. This fragility only lasts during the twisting period. It is not found at the end of cardiac embryogenesis. This zone would allow not only a sliding--due to its fragility--but also a controlled sliding--by its fibres. In addition to twisting there is also conal migration. This takes place in the same direction as proximal twisting and determines myocardial rotation, which is less marked however, than that of the corresponding ridges. Experimentation may exaggerate this dissociation by preventing migration. It may also reduce or even suppress it by the formation of adhesions between the two layers. Although this mechanism is not univocal, a myocardial-jelly adhesion could stop distal twisting for example and explain malposition or transposition of the great vessels. This dissociation is no unique to superior vertebrates as it has also been found in the first living animals in whom conal twisting occurs, the dipneustes.

[Single ventricle and malposition of the dorsal part of the interampullary septum. Experimental study on the chick embryo heart]. / Ventricule unique et malposition de la partie dorsale du septum interampullaire. Etude expérimentale sur le coeur d'embryon de poulet.

After the blood has passed through the atrioventricular orifice or orifices or the atrioventricular canal when present, it is distributed to the ventricular ampullae. This distribution depends on the position of the dorsal component or dorsal horn of the interampullary septum with respect to the atrioventricular canal. The position of dorsal horn seems itself to depend on unequal or differential growth of the basal part of the ventricular ampullae. This has been demonstrated by the results, selectively destroying myocardial tissues by cauterisation: "high" cauterisation of the dorsal side of the right ampulla leads to the formation of a single ventricle of the left type; "high" cauterisation of the left side of the left ampulla leads to the formation of a single ventricle right type. In the first case, the dorsal component remains too far to the right, and, in the second, too far to the left. This differential growth which is exaggerated in these cases, also occurs in normal development. The right ampulla seems to be dominant with respect to the left and is responsible for the normal position of the dorsal horn to the left of the right atrioventricular orifice.

[Eisenmenger's syndrome and pregnancy]. / Syndrome d'Eisenmenger et grossesse.

The consequences of pregnancy, abortion or tubal ligature were studied in 11 women with the Eisenmenger syndrome. Seventeen cases of pregnancy and 7 tubal ligatures were reviewed. In the 4 pregnancies continued of term and preceded by cardiac catheterisation, there were two maternal deaths on the 2nd and 7th day of the postpartum period due to pulmonary embolism confirmed in one case and suspected in the other. A third pregnancy was complicated by cerebral embolism and one case of tubal ligature was complicated by non-fatal pulmonary embolism. These cases were compared with previous reports in the literature to form a total of 42 cases of pregnancy in women with the Eisenmenger syndrome. The pregnancies were characterised by aggravation of dyspnoea and cyanosis in 72.4 p. cent of cases, by documented pulmonary embolism in 7 cases and by toxaemia of pregnancy in 26 p. cent of cases. The global mortality was 36 p. cent and all deaths but one occurred between the time of labour and the 11th postpartum day. Micro pulmonary thromboses were the commonest cause of death. Two mechanisms seem to combine to aggravate the cardiac status at the end of pregnancy and during the initial postpartum period: increased right-to-left shunt due to a rise in pulmonary resistances, due particularly to changes in coagulability favored by pregnancy; increased right-to-left shunt due to a decrease in systemic vascular resistances. A number of poor prognostic factors were identified: decreased oxygen saturation in arterial blood and toxaemia of pregnancy.(ABSTRACT TRUNCATED AT 250 WORDS)

[Origin of the common pulmonary vein, septation of the primary sinus venosus atrial situs and theory of the "sinus man"]. / Origine de la veine pulmonaire commune, cloisonnement du sinus veineux primitif, situs des oreillettes et théorie du "bonhomme sinusal".

Situated at the entry to the heart, the sinus venosus regulates at an early stage the distribution of the veins. Originally symmetrical, it receives on either side an omphalomesenteric vein, a common cardinal vein (duct of Cuvieri, ductus cuvieri) and a common pulmonary vein. This symmetrical pattern disappears with the obliteration of the rough right pulmonary vein and the invagination of the left ductus cuvieri into the sinusal cavity. Thus, the pulmonary venous blood is kept on the left side and the systemic venous blood is transferred to the right side. This is the usual situs solitus arrangement. Situs inversus is the opposite arrangement. In situs ambiguus the original symmetry is preserved. A sufficiently early cauterization of the left wall of the sinus venosus prevents the left ductus cuvieri from invaginating and results in "absence of coronary sinus"; this arrangement, where part of the original symmetry is preserved, is in fact similar to situs ambiguus. The situs of the liver and stomach is thought not to be determined by these organs but imposed to them by the sinus venosus, more precisely by the invagination--or lack of invagination--of a ductus cuvieri. This would explain the concordance between their situs and that of the sinus venosus and atria. It would appear that two errors are frequently made: the common pulmonary vein is said to originate from the left atrium, whereas it originates from the sinus venosus and only belongs to the left atrium when the sinus is incorporated in the atrium; the transverse septation of the sinus is incorporated to a shift to the right of the left sinoatrial fold which separates the sinus from the primitive atrium. This fold is indeed displaced to the right, but it is more distal and corresponds, in fact, to the cephalic border of the left ductus cuvieri, and its shift is produced by the invagination of that duct.

[Tetralogy of Fallot. 20 years' experience in 144 cases]. / Tétralogie de Fallot. Vingt ans d'expérience portant sur 144 cas.

Between 1968 and December 1987, 144 patients with tetralogy of Fallot were examined at La Pitié Hospital, Paris. 76 were female and 68 male, with a mean age of 8.1 years at the first visit. The patients were regularly followed up by the same physician relying on radiography of the chest, electrocardiography and, since 1982, two-dimensional echocardiography. These visits were coupled with an interview with the welfare officer attached to our department for information on the patient's way of life as well as his socio-professional and familial problems. 129 patients of mean age 14.8 years underwent corrective surgery preceded in 81 cases by palliative surgery. The overall immediate mortality rate was 12.4% (16 cases), falling from 19.5% between 1968 and 1977 to 3% during the last 10 years. The mean follow-up period was 10.7 years, with 51 patients being followed up for more than 10 years and 18 for more than 20 years. Late mortality now stands at 5.3% (7 patients, 6 of whom died of a cardiac cause). Residual lesions consisted in significant (27%) pulmonary insufficiency in 35 patients, residual interventricular septal defect in 16 patients (12.4%) and pulmonary obstruction in 11 patients (8%). 18 patients presented with dysrhythmias, including 7 cases of ventricular arrhythmia; 5 two-bundle blocks and 5 complete atrioventricular blocks were also observed. 11 patients required reoperation with a 27.2% mortality rate (3 cases).(ABSTRACT TRUNCATED AT 250 WORDS)

[Outcome of patients with Eisenmenger syndrome. Apropos of 62 cases followed-up for an average of 16 years]. / Devenir des malades atteints d'un syndrome d'Eisenmenger. A propos de 62 cas avec un suivi moyen de 16 ans.

In an era when heart-lung transplantation offers a therapeutic option for patients with Eisenmenger's syndrome, it is important to assess the natural history of this condition. With this objective the authors studied 62 patients followed-up by the same cardiologist. The average follow-up period was 16 years, but 22 patients were followed up for over 20 years. The average age at death was 29 years. It differed significantly for genetically normal patients (31 years for 21 fatalities) compared with a population of trisomics (21 years for 6 fatalities). Half the patient population lived for over 30 years. Fourteen of the 27 deaths occurred during the third decade and only 4 before the age of 20. The probability of surviving 10 more years for a 20 years old genetically normal patient was 56%. The causes of death in the 19 cases in which it could be established were: 5 sudden deaths, 4 right heart failures, 3 massive haemoptyses, 3 pulmonary emboli, 2 pneumonias and 2 peroperative deaths. The functional disability was nearly always minimal or mild, enabling the patient to work: 24 of the 45 non-trisomic patients had full-time jobs. Pregnancy was a poor prognosis factor and could be lethal (2 deaths due to pulmonary embolism in the post-partum period). A heart-lung transplantation would only seem to be justified in patients with severe symptoms, polycythaemia, irreversible right heart failure and/or haemoptysis.

[Atrial septal defect and cyanosis. Apropos of 6 cases related to abnormal drainage of the inferior vena cava into the left atrium]. / Communication interauriculaire et cyanose. A propos de 6 observations en rapport avec un drainage anormal de la veine cave inférieure dans l'oreillette gauche.

The authors report six cases of atrial septal defect (ASD) associated with abnormal drainage of the inferior vena cava into the left atrium responsible for right-to-left shunting, without pulmonary hypertension. The abnormal drainage could be due either to an anatomical malposition of the inferior vena cava opening into the left atrium, or to an abnormal blood flow from this vein, normally located through a low ASD, under the influence of anatomical, mechanical and haemodynamic factors. Clinically, all patients presented with light cyanosis and with the usual signs of ASD. None of them had elevated pulmonary pressure. The lesion, suggested by clinical findings, was diagnosed either at angiography, which in four cases demonstrated an abnormal pulmonary venous return, or at colour-coded doppler echocardiogram, or at surgery. In every case, surgical correction consisted of closure of the often low-sited ADS by a patch which diverted the inferior vena cava into the right atrium and the abnormal venous return towards the left atrium. The short--and long-term results of surgery were excellent. The authors review the literature concerning this unusual association of ASD with an abnormal drainage of the inferior vena cava into the left atrium.

[Percutaneous transluminal angioplasty in complex congenital cardiopathies. Apropos of 2 cases]. / Angioplastie transluminale percutanée dans des cardiopathies congénitales complexes. A propos de deux cas.

Percutaneous transluminal angioplasty (PTA), already widely used in stenosis of peripheral, renal or coronary arteries, has now been extended to congenital heart diseases. Thus, in pulmonary or aortic orificial stenosis this simple and fairly safe method has proved to be a suitable alternative to surgery. In other cases it may be used for tiding the patient over a critical period pending surgery. Finally, PTA may be performed as a palliative treatment of lesions that are too complex for surgery or carry an excessively high operative risk. This applies to the two cases reported here, where PTA enabled us to dilate: the ductus arteriosus in a patient with single ventricle--an application which, to our knowledge, has not yet been reported--and a strongly stenotic pulmonary orifice associated with a complex heart disease. In both cases PTA was successful both haemodynamically and angiographically and was followed by marked clinical improvement. The published cases of complex congenital heart diseases where PTA has been used are reviewed.

[120 cases of the Williams and Beuren syndrome]. / Etude de 120 observations de syndrome de Williams et Beuren.

120 cases of the Williams-Beuren syndrome were collected by 11 cardiological centres in France, to determine the incidence of the various clinical signs and to obtain information on its aetiology, outcome and treatment. The selection criteria for inclusion in the series was typical facies. No particular complications were reported during pregnancy. Boys were a little more affected than girls. The birth weight was low and problems, especially digestive, often occurred in the first months. Cardiac signs were usually detected from the first year, although the exact diagnosis was usually made later on. 3/4 patients had subaortic stenosis, which was severe in 1/3 cases. Involvement of the branches of the aorta was not looked for systematically: the incidence (1/5 cases) found was lower than the true figure. Half the patients also had stenoses on branches of the pulmonary artery, but only rarely were they severe. These vascular malformations often seem to be progressive and, over a 10 year period, half the patients deteriorated. Many extracardiac abnormalities were reported. The most frequently encountered were inguinal and/or umbilical hernia. Surgery on the subvalvular stenosis gave good results in over 80 p. 100 cases; operative mortality was about 10 p. 100. Surgery should be performed before irreversible coronary or myocardial lesions develop. The study of the previous history did not give any new information on the cause of the syndrome, whose association with idiopathic hypercalcaemia of infancy is emphasised once again.

[Problems posed by professional rehabilitation of cardiac patients]. / Problèmes posés par l'insertion professionnelle des cardiaques

The authors have followed up children with cardiac defects over almost a twenty year period. During the 1960's most of their patients had come of age, and they conclude that despite the enthusiasm of these young people and their potential, they have the greatest difficulties in finding work. This seems regrettable from the human as well as the socio-economic point of view. They propose that the law should be changed as, indeed, should the spirit of the law, so that; a subject with heart disease should no longer be considered as incapable of useful work, and that each person should be assessed according to his potential. They envisage the setting up of medico-administrative cardiological centres. Thus, in addition to the purely medical cardiological consultation, three additional persons would add their expertise: a social worker, an industrial medicine inspector, and an employment officer. These centres could be instituted easily, without making the existing system too unworkable.

[Ebstein's disease associated with Fallot's tetralogy. Apropos of a familial case, review of the literature, embryologic and genetic implications]. / Maladie d'Ebstein associée à une tétralogie de Fallot. A propos d'une observation familiale, revue de la littérature, implication embryologique et génétique.

Ebstein anomaly is a rare congenital cardiac malformation, representing 0.3 p. 100 of all congenital heart disease. The authors report a case of a child with Ebstein anomaly associated with tetralogy of Fallot, whose father had an apparently simple Ebstein anomaly. The association of Ebstein-Fallot is extremely rare with only 5 previously reported cases in the literature. The association Ebstein-VSD-pulmonary stenosis is more frequent (13 cases), whilst the association Ebstein-isolated VSD (33 cases) and Ebstein-pulmonary stenosis/atresia (38 cases) are relatively common. Other very varied associations have also been described. Atrial septal defect is practically an integral part of Ebstein anomaly with an ostium secundum or patent foramen ovale in 51 to 80 p. 100 of cases. The possibility of 2 subjects in the same family with Ebstein anomaly is far from negligible. A review of the literature revealed 7 other reported "pairs". A certain number of other cases also demonstrate the association of Ebstein anomaly with another congenital cardiac malformation in the same family, usually a VSD or tetralogy of Fallot. Our familial case raises the question of a possible embryological link between Ebstein anomaly and tetralogy of Fallot. Our experimental embryological studies also suggest the presence of a common denominator between these two conditions.

[Valvotomy and congenital aortic valve stenosis. Long-term results]. / Valvulotomie et sténose aortique orificielle congénitale. Résultats à long terme.

Twenty nine patients (average age 11 years) underwent valvotomy for congenital valvular aortic stenosis from 1967 to 1983. The medium and long-term results were analysed retrospectively: 14 children have been reoperated; 11 for restenosis and 3 for aortic regurgitation after an average period of 11 years. Thirteen of the other 15 patients have been regularly followed-up for about 10 years: there are 7 good results, 3 average results and 3 restenoses. One patient was lost to follow-up after 9 years and the other patient died secondarily of a non-cardiac cause. This series was compared to a previous one of 35 cases of valvular aortic stenosis who underwent valvotomy between 1954 and 1964. There were 6 deaths in the perioperative period and 6 during follow-up (on average 11 years after surgery), including 3 sudden deaths. Eleven patients were reoperated: 2 for endocarditis, 5 for restenosis and 4 for aortic regurgitation (on average after 13 years). Three patients were lost to follow-up and there are 9 survivors who have not been reoperated (average follow-up 27 years): 5 of these patients were reexamined; there were 2 excellent results, 2 average results and 1 restenosis. These results show that conservative surgery of congenital valvular aortic stenosis is now a low risk procedure in children, but it is a palliative solution. The main problem is that of follow-up to detect restenosis because of the risk of sudden death. This follow-up is much easier since the introduction of Doppler echocardiography, eventually associated with exercise stress testing in doubtful cases.(ABSTRACT TRUNCATED AT 250 WORDS)

[Double-chamber right ventricle, aortic subvalvular stenosis and interventricular septal defect. Apropos of 12 cases]. / Ventricule droit à double chambre, sténose sous-valvulaire aortique et communication interventriculaire. A propos de 12 cas.

The authors report 12 cases of double-chamber right ventricle associated with discrete subaortic stenosis and ventricle septal defect. The statistics derived from 3,292 surgical reports of congenital heart diseases operated on at the Marie-Lannelongue Surgical Center over an 8 years period show that this association is 7 times more frequent than the law of chance. Twenty-two per cent of double-chamber right ventricles had an associated discrete subaortic stenosis and, in 9% of cases of subaortic stenosis a double-chamber right ventricle was observed. The cause of this malformation could be a developmental defect of the primitive interampullar ring.

[54 cases of infectious endocarditis seen in 32 years in a population of 2038 congenital heart diseases]. / A propos de 54 cas d'endocardites infectieuses observées en 32 ans sur une population de 2,038 cardiopathies congénitales.

A longitudinal study of a 32-year period (1954-1987) involving 2038 patients with congenital heart defects followed by the same physician yielded 54 cases of infective endocarditis (IE). Complex cyanogenic cardiopathies were particularly exposed to the risk of infection (8.2 IE for 1000 patient-years), then came ventricular septal defects (2.4), tetralogy of Fallot (2.3), aortic stenosis (2.0) and atrioventricular canal (1.7). The risk was smaller in patients with Eisenmerger complex (1.2), persistent arterial canal (1.4) and coarctation (0.7). Patients under 10 years of age (16.7%) were less affected than young adults in the 20-29 years age-group (33.4%). The organisms most frequently isolated were streptococci (42%); staphylococci ranked second (23%). Less common organisms were found in 14% of the cases, and blood cultures were negative in 21%. Systemic prophylaxis with penicillin V, introduced 16 years ago, seems to have almost halved the incidence of infective endocarditis due to penicillin-sensitive organisms.

[Subvalvular aortic stenosis in adults. Apropos of 31 cases]. / Rétrécissement aortique sous-valvulaire de l'adulte. A propos de 31 cas.

The aim of this cooperative study was to analyse the clinical profile of subvalvular aortic stenosis (SVAS) in adults. Thirty one cases were collected : patients aged 17 to 60 years (average 34 years). The diagnosis was confirmed in all patients either at surgery (30 cases) or at autopsy (1 case). The overall incidence of SVAS in patients with fixed obstruction to left ventricular ejection operated in the same period was 3.5%. Associated congenital malformations were detected in 15% of cases but intracardiac shunts were rare. Adult SVAS is a purer malformation than in children, probably because of spontaneous and surgical selection. The anatomical type of stenosing lesion in this series was a subaortic ring or membrane; 45% of patients, usually over 40 years of age (7 out of 9) had localised septal hypertrophy at the level of the diaphragmatic obstruction. The clinical presentation was that of mixed aortic disease with associated stenosis and regurgitation. Over 80% of patients had aortic incompetence diagnosed clinically (26 out of 31 cases) or on aortography (24 out of 25 cases); the regurgitant flow was assessed as mild in 15 cases, moderate in 6 cases and severe in 3 cases. There were obvious valvular lesions at surgery in 19 cases, especially in patients over 40 years of age (8 out of 9 cases). The mechanism was variable : non-specific (8 cases), destructive (6 cases), rheumatic (2 cases) or congenital (3 cases). Bacterial endocarditis was particularly common (26% of cases). Adult SVAS is a particularly difficult clinical diagnosis : the electrocardiogram and chest X-ray are not very informative.(ABSTRACT TRUNCATED AT 250 WORDS)

[Long-term results of palliative operations and complete cure of tetralogy of Fallot]. / Résultats à long terme des interventions palliatives et de la cure complète dans la tétralogie de Fallot.

714 cases of Fallot's tetralogy have been encountered over the last thirty years. A closed heart operation was undertaken in 472 patients. The mean age at operation was 5,1 years. In 87% of cases, a Blalock-Taussig anastomosis was carried out. The operative mortality was of the order of 3%. The operative risk was almost three times as large before the age of two years as after. The patients benefit by a demonstrable improvement of function after this operation, but it does not protect them from the complications of the condition (cervica abscess, Osler's disease, cerebro-vascular accidents) or from death. Open heart surgery was carried out in 403 patients. 161 as a primary procedure, and 242 after an initial palliative operation. The mean age at operation was 13.3 years. The operative mortality was 15%. The functional improvement was striking, and the patients appeared to be protected from the usual sequelae of the condition. On the other hand they cannot always be considered as cured: 16 died some time after the operation; 37% had pulmonary incompetence; 15% had a residual BSD; 8% had a block of both bundles, and 3% had a definitive atrio-ventricular block.

[Dissecting aneurysm of the extracranial vertebral arteries and pregnancy]. / Anévrysme disséquant des artères vertébrales extracraniennes et grossesse.

A 32-year-old woman was at the end of her first and-until then normal-pregnancy, when she abruptly experienced a severe neck pain. Delivery was provoked two days later but a week after she suddenly developed a left lateral medullary syndrome. Angiography disclosed a severe diffuse and irregular narrowing of both vertebral arteries in their second and third segments, typical of dissecting aneurysm. The patient was treated with heparin and made a partial recovery. A second angiography nine months later showed a normal left vertebral artery while the right one was probably occluded.

[Measurement of arterial pressure in children. Influence of the resting time, inflatable surface and type of arm-band]. / Mesure de la pression artérielle de l'enfant. Influence du temps de repos, de la surface gonflable et du type de brassard.

Measurements of arterial pressure in children should be standardized as much as possible. The influence on readings of three factors--pre-measurement resting time, area of the inflatable surface and type of cuff--was investigated in 151 children divided into several homogeneous groups. The study showed that reliable values can only be surface area, it would appear that no modern apparatus provides accurate readings for all age groups. The cuff itself is of little importance, but diastolic pressure values are slightly increased when cuffs with an unprotected bladder are used.