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Aortic stenosis is a complex heart disease that involves the aortic valve and the left ventricle. Impairment of the left ventricle, abnormalities in its size, systolic and diastolic function determine the postnatal outcomes in the same way as the aortic valve. In the most severe forms, the left ventricle cannot provide systemic circulation at birth and the physiology is that of hypoplastic left heart syndrome. Fetal aortic valvuloplasty has been developed in the 90s to prevent in utero progression of aortic stenosis to hypoplastic left heart syndrome. In the present article, the most recently reported data about indications, procedure details and postnatal outcomes were reviewed.

Congenital heart disease remains an important cause of perinatal morbidity and mortality. Screening for these is based on a good knowledge of normal fetal heart anatomy and ultrasound views to be performed. After recommending the use of the four chambers and the right outflow tract views in 2005, CNEOF proposes recently adding the left outflow tract assessment. The use of this one should sensitize the operator to the notion of sweeping essential to obtain all these views and make it possible to improve the detection of the conal VSD and conotruncal pathologies.

This pictorial essay will initially present the origin, definitions, objectives and main principles of the segmental approach to congenital heart diseases. Then, through ultrasound scans iconography we will consider its practical applications to prenatal screening. Eventually, through both ultrasound and MRI cases, we will discuss its potential use in fetal diagnostic evaluation.

After the seminal discovery in 2000 that primary cilia are functional organelles which are essential for embryonic development, several mouse models of ciliopathies have been generated. The heart is frequently affected, with a large spectrum of malformations. The cilia of the node are required early in development in the determination of the left/right laterality of the embryo, which has secondary consequences on the formation of the heart. Thus, abnormal looping of the heart is a recurrent phenotype in models of ciliopathies. However, the function of primary cilia in cardiac cells remains poorly understood. Receptors such as polycystins or hedgehog receptors are usually localized in the primary cilium, raising the possibility that these signalling pathways, which are important for the septation and the growth of the heart, are transduced in primary cilia of cardiac cells. Knowledge of the roles of primary cilia at different steps of heart development and in different cardiac cell types will be essential to better understand the origin of human cardiopathies associated with ciliopathies.

J Obstet Gynaecol Can 2013;35(6):497 A 32-year-old woman underwent fetal echocardiography using HDlive at 21 weeks’ gestation. Her previous baby had had a double outlet right ventricle. Voluson E8 ultrasound equipment with a volumetric RAB 4–8D MHz probe was used. The scan showed a normal four-chamber view of the heart with the pulmonary vein draining into the left atrium (Figure 1) and normal angiographic study of the left ventricle and ascending aorta (Figure 2). Additional structures also appeared normal. The newborn showed normal postnatal echocardiographic and cardiologic outcomes. HDlive differs from conventional rendering methods because it uses a fixed virtual light source that calculates the propagation of light through skin and tissue. Operators can freely select the light source at any angle relative to the ultrasound volume to enhance anatomical details.

Although anatomically simple structures, the atrial septum and the ventricular septum have complex embryological origins. Recent findings in molecular biology allowed better comprehension of their formation. As soon as the heart tube is formed, cells migrate from several cardiogenic fields to take part in the septation. Elongation, ballooning, and later inflexion of the heart tube create chamber separating grooves, facing the future septa. The systemic venous tributaries conflate at the venous pole of the heart; it will partially involute while contributing to the atrial septum. The primary atrial septum grows from the atrial roof towards the atrioventricular canal. It fuses there with the atrioventricular cushions, while its upper margin breaks down to form the ostium secundum. Then a deep fold develops from the atrial roof and partly covers the ostium secundum, leaving a flap-like interatrial communication through the oval foramen. It will close at birth. The interventricular septum has three embryological origins. The ventricular septum primum, created during the ballooning process, origins from the primary heart tube. It will form the trabecular septum and the inlet septum. The interventricular ring, surrounding the interventricular foramen, will participate in the inlet septum and also form the atrioventricular conduction axis. The outflow cushions will separate the outflow tract in the aorta and pulmonary artery, and grow to create the outlet septum. After merging with the atrioventricular cushions, they will also be part of the membranous septum.

Une diète faible en sodium donnée à des rates lors de la dernière semaine de gestation induit une diminution de l’expansion volumique, du diamètre des artères utérines et du poids des placentas comparativement à des rates témoins. Ces perturbations suggèrent une diminution de la perfusion placentaire affectant l’apport foetal en nutriments. Les ratons naissent avec une restriction de croissance intra-utérine (RCIU). Chez le foetus, le substrat énergétique cardiaque principal est le glucose via la glycolyse. À la naissance, la source principale d’énergie est l’utilisation des acides gras par la β-oxydation. Nous émettons l’hypothèse que dans ce modèle de RCIU, le coeur foetal répond à la diminution d’apport nutritionnel due à une atteinte maternelle en adaptant son métabolisme énergétique cardiaque à la baisse. Les rates gestantes (témoins et recevant la diète faible en sodium) sont sacrifiées au jour 22 de gestation (sur 23). Les coeurs foetaux sont prélevés afin de caractériser les protéines dites « limitantes » in vitro des voies de la glycolyse et de la β-oxydation. Les expressions protéiques de GLUT1, GLUT4, HK1, HK2, CPT2, CPT1β, cytochrome c, PFK1, PKM1/2, mesurées par immunobuvardage de type Western, sont similaires entre les coeurs des foetus RCIU et témoins, mâles et femelles. L’expression protéique de CPT1α est diminuée dans les coeurs des femelles RCIU seulement. Il n’existe aucune différence significative entre les différents groupes quant à l’activité enzymatique de PKM1/2. Nos résultats dressent un profil métabolique général suggérant que le sexe du foetus peut avoir un effet sur la réponse cardiaque foetale à une atteinte du volume sanguin maternel causée par la diète restreinte en sodium. Ce profil métabolique semble démontrer une atteinte du catabolisme des lipides. Afin de bien caractériser cette réponse du mécanisme énergétique, l’activité enzymatique des autres enzymes principales de la glycolyse (HK1, HK2, PFK1), le flux intra-mitochondrial d’acyl CoA à travers les CPTs ainsi que la quantité totale d’acétyl CoA devront être quantifiés., A low sodium diet was given to pregnant rats during the last week of gestation. This diet diminished the maternal expansion of blood volume, the uterine arteries diameter, and placental weight, when compared to their controls. Together, these results suggest a lower placenta perfusion and a decreased output of nutrients to the fetus. The offspring of these pregnant rats were born with an intra-uterine growth retardation (IUGR). The fetal heart utilizes glucose through glycolysis as the major cardiac energy substrate. At birth, the principal source of energy switches to the oxidation of fatty acids, through β-oxydation. We hypothesized that within our IUGR model, the fetal heart could respond to a diminished nutritional intake due to the maternal input when a decreased cardiac energy metabolism was present. The pregnant rats of both groups (controls and on the low sodium diet) were sacrificed on day 22 of a 23 day gestation. The fetal hearts were then analyzed looking for signs of the limiting proteins glycolysis and β-oxidation. The GLUT1, GLUT4, HK1, HK2, CPT2, CPT1β, cytochrome c, PFK1, PKM1/2 proteins obtained through a Western immunoblot method were similar between the hearts of the IUGR and their control fetuses, whether they were male or female. The protein expression of CPT1α was lower only in female IUGR fetal hearts. There was no significant difference between the groups with respect to the enzymatic activity of PKM1/2. Our results suggest that the metabolic profile changes with regards to the fetus gender and could affect the fetal cardiac metabolism, due to a lower maternal blood flow caused by a sodium controlled diet, by diminishing its lipid metabolism and sparing glucose metabolism. To characterize the energy metabolism, the enzymatic activity of the other principal limiting enzymes glycolysis (HK1, HK2, PFK1), the intra-mitochondrial flux of acyl CoA through the CPTs and the total quantity of acetyl CoA must also be analyzed.

OCT4 encoded by pou5f1 is one of the most ancient and early transcription factors identified in the embryo. It has been longwise recognized as a gatekeeper for pluripotency of embryonic stem (ES) cell. Uncovered twenty years ago, its fame was built up from its key role in maintaining embryonic stem cell pluripotency in 1998. Since, OCT4 was reported to also instruct stem cell fate through a gene dosage effect. It reached recently a novel glorious hit with its master role in reprogramming somatic cells.

Developmental genetics of congenital heart diseases have evolved from analysis of embryonic hearts towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Ablation techniques, transgenic animal models and clonal analysis of the developing heart led to identification of different cardiac lineages and their respective roles. The mechanistic approach for great arteries anomalies has led to emerging concepts such as common embryological origin of anatomically different cardiac defects, phenotypic continuum of left heart obstructive defects, or developmental algorithms for cardiac isomerisms. Recent experiments that demonstrated the myocardial rotation of the outflow tract in mouse embryos led to a better understanding of the origin of transposition of the large arteries. This has also raised the hypothesis of a new group of congenital heart anomalies defined as laterality defects limited to a segment of the embryonic heart. These results confirm that genetic heterogeneity of congenital heart defects is related to the heterogeneity of the mechanisms that finally produce the same phenotype.

We report a case of fetal myocarditis without conductive abnormality in a pregnant woman with anti-Ro/La antibodies. Fetal echocardiography showed myocarditis with ventricular and valvular hyperechogenicity, which was confirmed by postnatal transthoracic echography. Treatment with dexamethasone (4 mg/day) was started in the 22nd week of gestation. The outcome was good, with the child remaining asymptomatic 2 years later. This observation describes one of the rare forms of fetal myocarditis with favorable outcome.

The electrical activity in heart is generated in the sinoatrial node and then propagates to the atrial and ventricular tissues. The junctional channels that couple the cardiomyocytes are responsible for this propagation process. These channels are dodecamers of transmembrane proteins of the connexin (Cx) family. Four Cxs - Cx30.2, -40, -43 and -45--have been demonstrated to be synthesized in the cardiomyocytes. In addition, each of these Cxs has a unique expression pattern in the myocardium. A fruitful approach of the role of these Cxs in the cardiac functions came with the development of transgenic mouse models. It has been shown that Cx43 was mainly involved in influx propagation in the ventricles and that inactivation in the cardiomyocytes of the gene of this Cx predisposed to development of cardiac abnormalities. Cx40 very significantly contributes to the propagation of electrical activity in the atria and the conduction system. Cx45 is essential to coordinate the synchronization of contractile activities of embryonic cardiomyocytes and for the normal progress of cardiogenesis. Finally, Cx30.2 contributes to the slowing of propagation of excitation in the atrioventricular node. These observations enable to better understand the relationships between alteration in Cx expression or gap junction remodelling and arrhythmias in the human heart.

To describe the effects of anaesthetic techniques and agents on the risk of fetal distress during labour pain relief and anaesthesia for caesarean section.Data on obstetric anaesthesia- and analgesia-induced fetal distress were searched in Medline database using MESH terms: fetal distress, anaesthesia, analgesia, labour, caesarean section, and umbilical artery pH. Trials published in English or French language were selected.Because of their haemodynamic effects, regional anaesthesia and analgesia, especially spinal anaesthesia for Caesarean section, could induce a decrease in umbilical artery pH (UApH). Moreover, intravenous ephedrine, especially when used in large doses can worsen the acidosis. Labour epidural analgesia is associated with a better acid-base balance than systemic analgesia. Experimental studies have demonstrated harmful effects of systemic opioids and hypnotic drugs on UApH and the foetal brain respectively. Clinical implications of these potentially detrimental effects remain to be determined.All obstetric anaesthesia and analgesia techniques are associated with a theoretical risk of fetal distress, but given the fact that regional anaesthesia techniques are also associated with well-demonstrated benefits for the mother and the newborn, the latter remain the preferred choice in obstetric practice.

The application and documentation of foetal surveillance in labour that will decrease the incidence of birth asphyxia while maintaining the lowest possible rate of obstetrical intervention remains discussed. The occurrence of abnormal foetal heart rate is a frequent indication for urgent Caesarean section and subsequent associated risks. Prevention, early recognition, and prompt intervention are the keys to minimizing the risks of anaesthetic mortality and morbidity, mainly from general anaesthesia. Definitions of safe standards of equipment and practices to prevent Mendelson's syndrome and to cope with a failed intubation drill are of major importance. Comprehensive communication between well-coordinated anaesthetic and obstetrical teams is one of the most important elements in the care of a compromised foetus.

Our findings on hearts of trisomic 21 fetuses of a new minor cardiac anomaly, belonging to the atrioventricular septal defect (AVSD) spectrum and the improved performances of the fetal ultrasound screening lend us to propose a new section, complementary to the standard cardiopathological examination. It would enable us to test the anatomic level of insertion of the atrioventricular valves of the crux of the heart. It consists of a section of the fetal hearts, fixed in formaldehyde, in a plane correlated to the plane of the fetal ultrasonographic four chamber view. Three hallmarks have been chosen because of their relevance and of their reproductibility in ultra sonography as well as in fetopathology: the apex and the inferior pulmonary veins. This additional section was realized on fetal hearts, regarded as "normal" with the standard pathologic examination, because of a lack of defect. It allowed us to detect a minor cardiac abnormality of the AVSD spectrum, frequent in the trisomic 21 fetuses, which we called: linear insertion of the atrio ventricular valves( LIAVV) without defect. Initially described on a series of Trisomic 21 fetal hearts, the LIAVV without defect has also been found in other fetuses with another pathology often associated with an anomaly of the AVSD spectrum. The possible detection of this abnormality in fetal cardiac ultrasound scanning justifies the use of this new anatomical technique. It also has to be included it in the full standard pathologic examination of the fetal hearts of all the abnormal fetuses.

Cardiac malformations occur the most within congenital anomalies. These malformations remain the leading cause of death in infancy related to severe and complex forms that appear earlier after birth. Actually, fetal echocardiography represents the best method for diagnosis of severe cardiac malformations. Depending upon several studies about congenital heart defects, the advantage is therefore the decrease of morbidity and mortality owing to pre- and postnatal interventions.

International audience; In agreement with previous data in the literature, our results indicate that serotonin, a monoamine neurotransmitter, can also regulate cell proliferation, cell movements and cell differentiation. We have recently shown that serotonin is required for embryonic heart development. Genetic ablation of the 5-HT2B receptor leads to partial embryonic and postnatal lethality with abnormal heart development. Similar molecular mechanisms seem to be involved in adult cardiomyocytes since mutant mice surviving to adulthood display a dilated cardiomyopathy. Furthermore this receptor appears to be involved in survival of cardiomyocytes. The 5-HT2B receptor is also implicated in systemic hypertension. Furthermore, mice with pharmacological or genetic ablation of 5-HT2B receptor are totally resistant to hypoxia-induced pulmonary hypertension, indicating that this receptor is regulating the pathologic vascular proliferation leading to this disease. Underlying mechanisms are still to be discovered.; En accord avec certaines données bibliographiques anciennes, lesrésultats récemment acquis par notre laboratoire indiquent qu'unepetite molécule, connue pour son action dans le système nerveux, lasérotonine, peut aussi contrôler la division, les mouvements et ladifférenciation cellulaires. Nous avons montré que le récepteur de lasérotonine 5-HT2B était impliqué dans la différenciation, la proliférationdu coeur embryonnaire. L'ablation génétique de ce récepteur conduit àune létalité partielle embryonnaire et postnatale avec desmalformations cardiaques. Des mécanismes similaires semblent utiliséspour la différenciation et le fonctionnement des cardiomyocytesadultes, les souris mutantes adultes présentant une cardiomyopathiedilatée. Les récepteurs 5-HT2B semblent de plus impliqués dans desfonctions de survie des cardiomyocytes.D'autres effets de l'absence de récepteur 5-HT2B concernentl'implication de la sérotonine et de ces récepteurs dans les mécanismesde contractilité vasculaire systémique. Des évidences récentes montrentaussi que le récepteur 5-HT2B est impliqué dans la réponse desvaisseaux pulmonaires à l'hypoxie qui est responsable de l'hypertensionpulmonaire. Les mécanismes moléculaires mis en jeu restent à préciser.

A retrospective study concerning patients having had a delivery by means pair of forceps over a period going from 1st Jun 1999 to 31st December 2000. The frequency of the use of forceps for delivery is 4.95%. The defect of eviction was an indication of the pair of forceps. Fetal suffering was the main indication. Maternal morbidity was represented essentially by a more or less injury of the genital tract with a rate of 11.1%. The rate of neonatal mortality is 1.28%. The maternal improvement of the maternal and fetal prognosis depends on an accurate indication of the use of forceps. In certain circumstances, mainly in fetal suffering, it is often difficult to choose between the high way and the low way.

Congenital heart block (CHB) associated with maternal anti-SSA/SSB antibodies: a report of four cases. CHB detected in utero is strongly associated with maternal antibodies to SSA (Ro) and SSB (La). Their pathogenic role in the development of CHB has been established in several studies. The mothers of affected infants frequently had autoimmune disease (systemic lupus erythematosus, Sjögren's syndrome) or were entirely asymptomatic. It is very difficult to identify pregnant asymptomatic mothers carrying anti-SSA/SSB antibodies. We report four cases of infants born to asymptomatic mothers with anti-SSA/SSB antibodies, three of them developed isolated congenital cardiac heart block and one with no evidence of CHB. All three CHB are detected during pregnancy between 16 and 24 weeks of gestation. All maternal sera contained antibodies to SSA alone or the both SSA and SSB. Three of four subsequent pregnancies were complicated by heart block. One child affected died in utero. While the two other newborns with CHB required pacemaker insertion during the first 3 months of life. Although the association of anti-SSA/SSB with CHB is widely accepted, the precise mechanism by which these antibodies cause cardiac conduction abnormalities remains to be defined. Antibodies to SSA/SSB have been proposed to be a serologic marker for neonatal lupus syndrome and CHB. Fetal and neonatal diseases are presumed to be due to the transplacental passage of these IgG autoantibodies from the mother into the fetal circulation. Since these antibodies may have a pathogenic role in CHB, screening of infants with isolated CHB or neonatal lupus and their mothers for the presence of anti-SSA and anti-SSB is strongly recommended.

Three different clinical patterns of acute fetal distress may be observed during labor: an ante-partum hypoxia with a persistent nonreactive and "fixed" fetal heart rate (FHR) on admission to the hospital, a progressive intra-partum asphyxia manifested, as the labor continues, by a substantial rise in baseline heart rate, a loss of variability and repetitive severe variable or late decelerations, and finally, as a result of a catastrophic event, a sudden prolonged FHR deceleration to approximately 60 beats per minute lasting until delivery. However the majority of fetuses with nonreassuring tracings of FHR are neurologically intact, as evidenced by the high false-positive rate of electronic fetal monitoring (EFM). Therefore the diagnosis of fetal distress must be corroborated by complementary methods, such as continuous recording of the fetal electrocardiogram or computed-assisted EFM, fetal pulse oximetry or fetal scalp sampling with immediate determination of blood gases or lactates. Defavorable outcome of an acute fetal distress leading to neonatal encephalopathy or death is best predicted by a persisting low Apgar score (3) for more than 5 minutes and by a severe metabolic acidosis (umbilical artery pH7,00 and base-excess-12mmol/l).

The fetal heart must be systematically checked in routine ultrasonographic examination to detect any cardiac abnormality. The quality of the examination requires good knowledge of development and anatomy of the fetal heart. A complete examination will study inflow and outflow tracts: inflow tract on the four-chamber view, outflow tract by a static and dynamic study of the great arteries (on section in fetal axial and saggital planes). All cardiac abnormalities indicate the need for a fetal karyotype after a complete morphologic study. Atrioventricular septal defect (ASD) for Down's syndrome and malaligment septal defect of cono-truncal pathology are both excellent signs of chromosome abnormality. Special attention must be paid to cardiac abnormalities without a prenatal diagnosis due to the prognosis risk: complete transposition and total abomalous venous connection. These cardiac abnormalities, as well as complex isolated congenital heart disease, require a cardiopediatric evaluation to determine prognosis and management strategy.

About 10 out of 100 newborns are affected by congenital heart defects that remain the least easy to detect remain prenatally, despite the relatively high detection rate of fetal malformations. Antenatal diagnosis of congenital heart defects depends on operator experience and skill, but recent techniques of computer assisted ultrasound imaging should be useful by allowing easier recognition of fetal heart anomalies. New imaging procedures include a set of internal fetal views by volume rendering and post acquisition slice selection. Internal views are nearly similar to those obtained during open-heart surgery. In practice, from typical long axis and apical views, two volumes are stored for further examination. Fetal movement, fetal spine and maternal obesity are unfavorable circumstances for useful examination. The routine use of cardiac volume sampling for malformations screening should be possible with increasing speed in image acquisition and in data storage to display real-time 3D imaging.

The present case describes an acardiac, acephalic fetus, diagnosed by ultra-sound, during the 33rd gestational week of an insulin dependent diabetic parturient, who had developed toxemia gravida. The diagnosis had been confirmed by the autopsy. The differential diagnosis from an in-utero death of the second twin had been raised. The acardiac acephalic foetus is a rare congenital malformation observed during the monozygotic twin pregnancy. The second fetus being normal, our approach consisted in the clinical observation of the parturient, followed by cesarean section delivery the 4th day of the 36th gestational week to avoid worsening of toxemia gravida.

In a previous paper the authors suggested that the right atrial appendage is structured for retrograde sinusoidal blood flow to embryonic conducting tissue in the venous sinus portion of the right atrium.To test the hypothesis that the relationship among conducting, valvar and trabecular myocardium of the human heart is primarily for the nutrition of the heart itself rather than for downstream blood flow.Embryonic, fetal, infant and adult human hearts were studied grossly and microscopically for evidence of a dedicated sinusoidal blood supply to the atrioventricular node. Outflow tract anatomy was reviewed to test the hypothesis that junctional zones, nodal or non-nodal, are structured according to the same basic principle concerning nutrient supply to conducting tissue.The finding of a sinusoid-rich 'spongy trabecula' in relation to the septal node suggests that the septal junctional zone, like the sinoatrial junctional zone, is structured for retrograde sinusoidal blood flow to nodal conducting tissue. The anatomy of the pulmonary and aortic outflow tracts supports the idea that the heart is structured from repeating triplets of conducting, valvar and sinusoid-rich trabeculae. Although the heart is an external pump, it is structured as an internal pump.

Cardiac malformations are the most frequent and serious fetal malformations. However their prenatal diagnosis is the less easy. Fetal echocardiography is the main diagnostic tool; in addition it is helpful for the therapeutic orientation. Only 30% of fetal heart diseases are detected on account of maternal or fetal indications, most of them being discovered without any known risk factor. In order to improve its diagnostic sensitivity, fetal echocardiography must include a four chambers view and a study of ventricular and arterial connection. Nevertheless, many heart diseases remain undetected, most of them being minor with favorable prognosis. Search of an extracardiac abnormality and karyotype analysis must be performed in order to explicit the prognosis. Fetal arrhythmias can be analyzed by study of the atrial and ventricular contraction using M-mode echocardiogram or Doppler mode; most of them are supraventricular and accessible to maternal therapy. The sustained fetal bradycardia is frequently a complete heart block whose prognosis depends upon its association with a heart defect and/or a ventricular escape. Antibodies SS-A and SS-B are frequently associated with complete heart block without structural heart defects. Hypertrophic cardiomyopathy may be observed in fetus of diabetic mothers needing an accurate evaluation of the thickness of the interventricular septum. Echocardiography is a part of fetal medicine, which includes the different specialties devoted to the fetus.

Ventricular tachycardia is rare and poorly understood in the neonate. The authors undertook a retrospective study in 2 foetus and 8 neonates aged 1 to 20 days at the time of diagnosis. The tachycardia was permanent in 2 cases, observed in runs of variable variation in the other 8, incessant in 7 of these cases. Only two cases were symptomatic: cardiac failure with shock 16 hours after birth and hydramnios at 16 weeks gestation. The electrocardiographic criteria of ventricular tachycardia (wide QRS complexes of different morphology to the sinus QRS complexes, atrioventricular dissociation) were fulfilled in all patients. The arrhythmia was monomorphic 9 times out of 10 with a fixed (3 cases) or variable (7 cases) rate which was always150/min. Intravenous magnesium sulphate in the severe and permanent forms, oral betablockers in forms triggered by acceleration of the sinus rhythm, oral amiodarone alone or associated in one case with propranolol were prescribed but three neonates were not treated, either from the outset or after inefficacy of amiodarone: nine of the patients were cured and are treatment-free 12 to 24 months later: the other patient has a slow, well tolerated ventricular tachycardia. No aetiology was detected in 9 cases; the other had a metabolic disease of B-oxidation of long chain fatty acids. The authors conclude that isolated, idiopathic ventricular tachycardia of the neonate usually carry a good prognosis which is not dependent on the tachycardia of the permanence of the arrhythmia. Simple treatment (betablocker or amiodarone) is usually associate with restoration of sinus rhythm and definitive cure during the first year of life.

To diagnose a fetal heart abnormality is one of the most important purpose of the foetopathologic examination performed after spontaneous abortion, intrauterine death or pregnancy termination. Frequency of cardiac abnormalities in fetal or maternal pathologies explains the significance of this diagnosis in a pertinent genetic counseling before next pregnancy. The diagnose of a fetal heart abnormality requires a good knowledge of: normal anatomy and examination technics of fetal heart, congenital heart abnormalities classification and knowledge of the most common diagnosis, diagnostic orientation according to the cardiopathy: fetal origin in genic syndrome, chromosomal abnormalities, malformative or sporadic association; maternal etiology (toxic, infection, metabolic). This procedure needs experience, acquired by rigorous practice and team working.

One of the conditions for successful anatomical correction of transposition of the great arteries (arterial switch) or of double discordance (double switch) is the ability of the subpulmonary left ventricle to adapt to the systemic circulation when restored to its subaortic position. A balloon catheter designed for training the subpulmonary ventricle by progressive occlusion of the main pulmonary artery (NuMed) was implanted in six lambs aged 45 days and inflated progressively to obtain the maximum tolerated right ventricular pressure. Six controls were instrumented without balloon inflation. The experiment lasted 5 days. Progressive inflation of the balloon to a right ventricular pressure70% of the systemic (carotid) pressure led to bradycardia with venous desaturation and acidosis which regressed when the balloon was deflated. In one animal, progressive adjustment enabled a right ventricular pressure of 75% of the systemic pressure to be obtained throughout the last day of the study. No significant right ventricular hypertrophy was obtained. The value of this technique is in assessing the afterload reserve of the tested ventricle before surgical banding of the pulmonary artery, the first step to anatomical correction for restoration of concordance of double discordance or of transposition of the great arteries previously treated by a Senning or Mustard procedure.

The messenger RNA of the cardiac sarcoplasmic reticulum ATP-ase (SERCA-2a) increases in the left ventricle (LV) during ontogenic development but decreases in hypertrophy induced by increased afterload. Because of the frequency of increased left ventricular overload in congenital heart disease, the authors investigated to see if these increases were likely to interfere with the normal ontogenic program of expression of the SERCA-2a gene in the LV of sheep's foetus. A preductal coarctation of the aorta was realised by banding the transverse aorta (AoT) at 93 days' gestation in 9 foetus (CoA) matched with 9 healthy twin foetus (T). All the foetus underwent haemodynamic, anatomical, histological and molecular biological investigations 4 weeks later. The concentration of SERCA-2a mRNA in the LV was measured by hybridation of a Northern blot with a rat DNAc probe normalised with RNAr 18S. A coarctation was observed in all the CoA group and in none of the T. The ratio of LV weight/body weight was increased in 65% of CoA (p0.0001). The concentration of SERCA-2a mRNA in the LV was much reduced in CoA (average -28.6%) of the values observed in T (p = 0.003). Left ventricular hypertrophy of the sheep's foetus induced by pathological increases of afterload surpassed or slowed down the physiological ontogenic maturation of expression of the SERCA-2a gene in abnormalities of cardiac pump function.

Acardiac fetus is a rare lethal fetopathy usually encountered in monozygous pregnancies. Ultrasound prenatal diagnosis has enabled an increasing number of observations and raised the need for an adequate therapeutic approach since the spontaneous prognosis for the healthy twin is unfavorable in half of the cases. An acardiac fetus was identified at 12 weeks gestation in a 36-year-old woman. Growth of the healthy fetus was carefully monitored and progressed normally to delivery by cesarean section of a 2.900 kg boy at 36 weeks. At delivery, the acardiac fetus was found to be totally free of any attachment, floating in the remaining fluids. Pathology examination showed a 16 g macerated fetus with a cephalic extremity, a ventral pedicle and a syrenomelic caudal extremity. The caryotype was not significative. Acardiac fetus occurs in less than 1% of multiple pregnancies and can develop in single pregnancies. Twin reversed arterial perfusion has been recognized as necessary for development of the perfused fetus. Genetic and immunologic theories have been proposed to explain the pathogenesis which remains unknown. Clinical management depends on the spontaneous development of the acardiac fetus and the deleterious consequences for the healthy twin resulting from heart failure, anasarca or prematurity. Medical management with digoxin, or selective extraction by hysterotomy may improve prognosis but results have been variable. Echoguided umbilical cord ligation has also been proposed to improve maternal mortality. Therapeutic abstention is no longer indicated at prenatal diagnosis of an acardiac fetus and a healthy twin despite the risk of invasive treatment.

Foetal acardia is a major complication of twin pregnancies which endangers the life of the healthy twin. The authors report the case of a twin pregnancy with an acardiac twin followed up by repeated echocardiography from the 20th week of pregnancy until delivery at the 36th week. Despite the presence of a parasitic mass, the healthy twin showed no sign of heart failure. Attentive ultrasonography of this mass showed a certain degree of autonomic circulation ensured by a rudimentary cardiac pump. This case confirms the favorable effect of this finding on the healthy twin, moreover, it clarifies some haemodynamic features of the parasitic mass: to-and-fro circulation, characteristic of a cardiac pump without a valve, anastomoses and competitive flow between the two circulatory systems.

Thanks to recent developments in ultrasonography, morphological and functional studies of the fetal heart have become very reliable. The acquired experience of recent years now allows routine surveillance of the fetal heart in pregnancies at risk, especially when family, fetal or maternal indications exist. The best time for a detailed echocardiographic examination is between the 18th and 22nd week of gestation, which leaves time for a other investigations that may be warranted before critical decisions have to be taken. Fetal cardiology today is not restricted to the diagnosis of structural cardiac malformations only, but allows the identification of arrhythmias and, if necessary, their treatment. Our experience is compared with that of major centres. Ongoing research offers hope that new therapeutic methods will be developed that may prevent or cure fetal cardiac diseases.

At 20 weeks amenorrhoea, it is currently possible to determine with echocardiography whether a fetal heart, which then weighs approximately 400g with a diameter of 15 mm, is normal or not. The incidence of cardiac malformations has been estimated at 8 per 1000 fetuses. Fetal factors including retarded growth, hydramnios and arrhythmia and maternal factors including rubeola, diabetes, systemic lupus erythematosus, Rhesus incompatibility and drugs increase fetal risk. In certain cardiopathies such as aortic stenosis, coarctation, malformation of the mitral valve or left ventricle hypoplasia, the risk of recurrence in a second fetus is greatly increased. With 2D echocardiography, the apical section of the four heart cavities orients the heart in the thorax, identifies the atria and ventricles and visualizes valve movement. The origin of the aorta and the kinetics of the mitral and aortic valves are studied on the para-sternal section. TM mode reproduces the P-QRS sequence thus allowing a measurement of heart rate, the thicknesses of heart walls and septa and identifies conduction disorders. The transvalvular systolic pressures can be measured with Doppler echocardiography and pulsed Doppler quantifies blood flow through the different heart structures. Precision can be increased with colour coding. A complete echocardiography of the fetal heart should be an integral part of all examinations of fetal morphology. Usually performed between 22 and 32 weeks of amenorrhoea, echocardiography of the fetal heart requires a perfect understanding of two-dimensional Doppler modes and of three-dimensional representation of heart anatomy.

An acardiac twin in a multiple pregnancy initially develops normally and is a specific complication of monozygous multiple pregnancies. Development results from arterio-arterial and veno-venous anastomoses leading to predominance of one of the twins. The haemodynamic abnormalities in the dominated twin lead to the disappearance of the heart and major morphologic malformations. Outcome is generally unfavourable in 50% of the pregnancies with an acardiac twin. Complications in the healthy twin include heart failure, then hydramnios, and finally premature delivery which is the cause of most of the deaths. Proposed treatment currently relies on treating the heart failure in the healthy twin or interrupting vascularization between the two twins leading to in utero death of the acardiac twin. Antenatal diagnosis is made by echography and is useful for evaluating the prognosis for the pregnancy according to the growth of the acardiac twin.

Dystrophin, the Duchenne muscular Dystrophy gene product, is a large cytoskeletal protein associated with a complex of membrane proteins, the Dystrophin Glycoprotein Complex (DGC). Dystrophin is localized to the sarcolemmal membrane of all normal muscle types, but is absent from muscles of DMD patients. Using monoclonal antibodies raised against distinct regions of the dystrophin, we studied its expression and subcellular localization during human skeletal, cardiac and smooth muscle development. We have shown that the expression and the association of dystrophin with the plasma membrane take place earlier in cardiac and smooth muscles (8 weeks of gestation) than in skeletal muscles. In skeletal muscles, dystrophin is first observed in the cytoplasm, and is progressively localized to the plasma membrane from 10 weeks onwards. We obtained differences in staining when using antibodies against either the central part of the protein or the carboxy-terminal domain, and we suggested that isoforms of dystrophin, probably differing in their carboxy-terminal end and their capacity to associate with the plasma membrane were differentially expressed during development and in different tissue-types (7). These findings are discussed in the context of the pathology of Duchenne Muscular Dystrophy.

Antenatal diagnosis of heart disease has become very efficient with the advances in ultrasound technology. Accordingly, antenatal treatment of some heart diseases is possible and this is mainly represented by fetal tachycardia and brachycardia. In fetal tachycardia, medical treatment leads to improvement or total curve in approximately 85% of cases. In contrast, there is no efficient medical treatment for fetal bradycardias. In any case, fetal therapy must fulfill several conditions, namely: transplacental transfer of the drug, innocuity for the mother and the fetus, absence of teratogenic effect and low extracardiac tissular accumulation.