La tunisie Medicale - 2008 ; Vol 86 ( n°02 ) : 171 - 173
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Résumé

L'ectopie cardiaque est une malformation rare et impressionnante se présentant comme une lésion isolée ou faisant partie de la pentalogie de Cantrell. Elle est définie comme une anomalie dans laquelle le coeur foetal se trouve à l'extérieur de la cage thoracique.
Le but du travail est de rapporter les principaux éléments de diagnostic prénatal et de prise en charge de l’’ectopia cordi’’.
Observation : Nous rapportons un cas d'ectopie cardiaque diagnostiqué à 19 semaines d’aménorrhée lors d’une échographie bidimensionnelle. Des anomalies multiples congénitales ont été trouvées. La plus importante était la présence d'un défect ventral et thoracoabdominal avec une éviscération du coeur, du foie, de l'estomac et des intestins. L’examen autopsique a confirmé les constatations échographiques. La décision d’interruption médicale de la grossesse a été prise

Mots Clés
Article

Ectopia cordis is defined as an anomaly in which the fetal heart lies outside the thoracic cavity. It is a rare and impressive congenital abnormality with an incidence of 5.5 to 7.9 per 1 million live births (1). It was first observed 5000 years ago (2) .To date, the cause of ectopia cordis is unknown, and most cases are sporadic. It may occur as an isolated malformation or associated with a larger category of ventral body wall defects that affect the thorax, abdomen or both.The aim of the study is to report the prenatal diagnostic features and management of ectopia cordis.

CASE REPORT

A 23- year-old woman, gravid 1, para 0, was referred after a routine dating ultrasound which revealed a ventral wall defect. The patient had no prior prenatal care. The family history was negative for congenital or genetic abnormalities and the patient denied exposure to drugs or toxins.Ultrasonographic examination revealed a single fetus with measurements consistant with 19 weeks gestational age. Multiple congenital anomalies were found. The most important one was the presence of a ventral thoraco-abdominal wall defect with exstrophy of the heart, liver, stomach and intestines.No craniofacial or intracardiac abnormalities were detected. (Figures 1,2,3, 4)The umbilical cord and placenta were normal in appearance and location.Diagnosis of ectopia cordis associated with ventral body wall defect was made.Genetic amniocentesis was performed and revealed a 46 XX, karyotype. Owing the poor prognosis, the patient elected to terminate the pregnancy following counseling.Under prostaglandins induction,the fetus and the placenta were vaginally expelled two days later.

Figure 1 : Sonogram showing the fetal heart lying completely outside the chest cavity (circle)cavity (circle)
a : Axial view. b : Sagittal view

 

Figure n°2 : Ventral thoraco-abdominal wall defect with exstrophy of the heart (a)liver (b), intestines (c) and stomach (d).
1: Sagittal view. 2: Axial view.

 

Figure n° 3 : Photographs of the abortus demonstrate: the midline thoraco-abdominal defect (accolade) and an abnormal position of the left arm with partial absence of the forearm and hand (clear arrows).Evisceration of heart (a) , left lung (b), stomach (c) , small and large intestines (d) and liver (e).

 

The body weight of the female abortus was 320 g. The measurements were compatible with a fetus at 19-20 weeks of gestation.The autopsy confirmed thoraco-abdominal wall defect with evisceration of the heart, left lung, liver stomach, small and large intestines and of the lower part of the esophagus. (Figure 5).
We also found an abnormal position of the left arm with partial absence of the forearm and hand. Furthermore, hypertelorism, macrocephaly and retrognathy were noted.The intracardiac structures and outflow tracts were normal.The umbilical cord was unremarkable.

DISCUSSION

Ectopia cordis is a rare and impressive congenital malformation which was observed thousands years ago (2). Abbot was the first author who defined the ‘’ extra thoracic heart’’ (3). Subsequently, the term “ectopia cordis” has been used to describe all anomalies in which the heart was not located within the thorax (4).Clinically, ectopia cordis has been classified into four types: cervical, thoracic, abdominal and thoracoabdominal whether the heart is respectively in the neck, anterior to the sternum, within the abdomen or between the thorax and the abdomen.(4,5) Kabbani and al. classified this malformation into five types adding the cervicothoracic type (6).The two most common forms of ectopia cordis are the thoracic and the thoracoabdominal type (7,8). The latter can be part of a distinct syndrome known as Cantrell’s penology which has a variable expression. (7,9,10,11,12)Embryologically, in about the third week, early disturbance in the formation of the cephalic fold will result in defective formation of the thoracic and epigastric walls, finally resulting in ectopia cordis with anterior defect of the sternum and diaphragm and an omphalocele (13, 14, 15, 16). Until 1981, ectopia cordis was diagnosed only in the delivery room (13)and prior to 1988, prenatal diagnosis of this malformation before the third trimester of gestation had never been reported (11). With the development of ultrasound equipment, diagnosis is possible at a very early stage of gestation. Prenatal diagnosis in the first trimester has been has been reported (17,18,19). In our case, the diagnosis has been made in the second trimester by two-dimensional ultrasonography. The key features in our diagnosis were a thoracoabdominal wall defect with an extrathoracic pulsating mass containing Doppler waveforms typical of intracardiac flow. According to M Burn (20), the prenatal diagnosis is easily made by visualizing the evisceration of the heart through a parietal defect. The heart can be partially or completely outside the thorax. Pericardic effusion and omphalocele would be elements of the positive elements (20,21). Liamg and al (11) repoted that 3-dimensional reconstructed images will provide a more complete view of the anomaly prenatally.It is known that a few cases of ectopia cordis are associated with chromosomal abnormalities such as triploidy or trisomy, and cases of a familial X-linked inheritance have been reported. (1,21,22,23,24) The risk of recurrence is generally considered minimal. (25)The prognosis of ectopia cordis is generally poor, with death commonly occurring before or immediately after birth, usually owing to associated malformations. Infants with no or mild associated congenital heart disease may survive after successful surgical intervention (6,19).The procedures are complex. Primary repair in the neonatal period is the best type of management (26).

CONCLUSION

Ectopia cordis is a rare congenital malformation with a poor prognosis. Ultrasonography is of great value in the prenatal assessment. The ectopia should be precisely localized and its classification accurately determined. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and assessment of fetal karyotype. Pregnancy termination prior to viability and a non aggressive management in the third trimester should be considered and discussed with the parents.

Références
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