J. Le Bidois

Prenatal detection of a tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion

Here, we report a case of prenatal diagnosis of anomalous origin of the left pulmonary artery from the ascending aorta associated with a tetralogy of Fallot in a familial form of 22q11 deletion. The mother, who had a normal heart and a velo‐cardio‐facial syndrome, had a first child with a pulmonary atresia plus ventricular septal defect associated with a 22q11 deletion. Prenatal diagnosis during the second pregnancy identified the above‐described cono‐truncal anomaly and FISH study showed a recurrent 22q11 deletion. This case illustrates the intrafamilial variability of cardiac involvement in 22q11 deletion as well as the possibility of diagnosing complex cono‐truncal malformations during fetal life. Copyright

Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex.

To determine the prevalence of specific cerebral lesions of tuberous sclerosis complex (TSC) and neurological outcome in cases diagnosed prenatally with cardiac rhabdomyomas.

Heart transplantation in children: Mid-term results and quality of life

From 1987 to 1991, heart transplantation was undertaken in 49 infants and children with either end-stage cardiomyopathies (28 patients) or severe congenital heart disease (21 patients including 16 having already been surgically but unsuccessfully treated). Their age ranged from 13 days to 15 years (mean=4.5±4.2 years; median=2.5 years). There were 12 early and 7 late deaths (overall mortality=38%), mainly due to graft dysfunction, acute or chronic rejection, and infectious complications, mostly viral. Optimal criteria in selecting both donors and recipients are crucial to reduce early mortality and should never be transgressed despite the critical shortage of organs. The actuarial probability of survival was 64% at 1 year and 57% at 5 years. Our 30 mid-term survivors (62%) were submitted to a close follow up programme which includes endomyocardial biopsies, even in the very young, since non invasive criteria failed to mark every rejection episode. Maintenance therapy was always steroid-free to start with (cyclosporin + azathioprine) but in almost one half of our oldest survivors, it failed to avoid rejection and we had to add lowdose oral steroids for at least several months. Epstein-Barr virus related lymphoproliferations occurred in four patients, two of whom died and two recovered with specific therapy. Renal function was closely monitored: tubular and interstitial lesions were found on renal biopsies and were associated with moderate functional changes. The quality of life of the children who survived heart transplantation was considered as near normal in a little more than one half of the cases but many issues (late coronary disease, drug toxicity, long-term compliance to follow up and therapy) remain significant concerns for the future.

Prenatal Ultrasound May Predict Fetal Response to Therapy in Non-Hydropic Fetuses with Supraventricular Tachycardia

Objective: To study the fetal response to prenatal therapy in non-hydropic fetuses with supraventricular tachycardia (SVT) as a function of fetal haemodynamic status at presentation. Study Design: Retrospective study. Material and Methods: Between 1990 and 2000, 40 non-hydropic fetuses presented with SVT. Twenty-eight had reciprocating SVT and 12 had atrial flutter. Ten fetuses had significant tricuspid valve regurgitation. All fetuses were treated prenatally. The main outcome measurement was fetal response to therapy as assessed by the rate of prenatal SVT reduction and by the mean time interval to sinus rhythm restoration. Results: The mean gestational age at presentation was 29 ± 4.9 weeks. Overall, there were 39 liveborns and 1 intrauterine death. Reduction of SVT was achieved prenatally in 32 cases (80%). Among the 30 cases without tricuspid regurgitation, prenatal conversion to sinus rhythm was achieved in 27 cases (90%) with a mean time interval of 7 days. Among the 10 fetuses presenting with tricuspid regurgitation, the rate of prenatal conversion was significantly lower (5/10) and the mean time interval to conversion was significantly longer (24 days; p = 0.04, Mann-Whitney test). In the subgroup treated by digoxin as first-line therapy (n = 32), the interval to sinus rhythm restoration was also significantly higher in the presence of tricuspid regurgitation, with a slightly but not significantly lower reduction rate. Conclusion: The response to prenatal therapy may be poorer in cases presenting with tricuspid regurgitation.

Pulmonary stenosis in complicated monochorionic twin pregnancies: prevalence, management and outcome

To review prevalence, management and prognostic factors of pulmonary stenosis (PS) in monochorionic diamniotic (MCDA) pregnancies complicated by twin‐to‐twin transfusion syndrome (TTTS).

Clinical course and outcome of antenatally detected atrioventricular block: experience of a single tertiary centre and review of the literature

The objective is to study the course and outcome of fetuses with congenital atrioventricular block (AVB) in a single centre.