Lethal multiple pterygium syndrome and its variants provide an opportunity for prenatal diagnosis using mid-trimester ultrasound examination. The case presented here highlights the importance of postural deformity in reaching a diagnosis and illustrates the importance of full ultrasound examination of the fetus even when the well-documented common features of a condition are absent.
A 35 year old primigravid woman with no significant medical or family history presented to her midwife at 24 weeks having had a normal anomaly scan at 20 weeks. At this visit the midwife was unable to identify the fetal heart rate but attributed this to an anterior placenta. During a routine check at 28 weeks the general practitioner was again unable to detect a fetal heart beat and referred her for immediate assessment to the local obstetric hospital. Ultrasound scan demonstrated a normally grown, active fetus but with a heart rate that varied from 60 to 110 beats per minute (bpm). Referral was made to a tertiary centre.Scanning by a paediatric cardiologist identified normal cardiac anatomy, 2:l second degree heart block resulting in a ventricular rate of 55 bpm, and episodes of nonsustained ventricular tachycardia. Subsequent scans carried out twice weekly demonstrated that the ventricular rate varied between 55 and 70 bpm in the presence of atrioventricular block with an atrial rate between 110 and 140 bpm. Short runs of ventricular tachycardia (at approximately 200 bpm) were observed but the fetus remained active with no development of hydrops. The cardiothoracic ratio was approximately 50%. Anti-Ro antibody testing of the woman was negative. There was no family history of the long QT syndrome and both parents had a normal Qt, on their 12-lead electrocardiograms.At 31 weeks she reported to her local hospital with a reduction in fetal movements over the previous 24 hours. The scan showed frequent and more prolonged ventricular arrhythmias and she was transferred to a unit with cardiac facilities. On arrival the scan showed a persistent sinus bradycardia fetal movement seen or felt; there was again no evidence of hydrops.In view of the possibility of fetal distress manifested by a slowing of the atrial rate from 110 to 85bpm and a lack of fetal movement, a decision was made for urgent delivery by caesarean section under general anaesthetic. This was performed with a cardiac surgeon standing by in the adjacent cardiac operating theatre for immediate insertion of an epicardial pacemaker.A live male infant weight 1.7 kg with Apgar scores of 8 at one minute and 9 at five minutes was delivered by emergency caesarean section. On delivery the heart rhythm was very irregular with a rate of 60-70 bpm.There was complete atrioventricular block with an underlying ventricular rate of 60 bpm and frequent multifocal ventricular ectopic beats progressing to couplets and triplets; there was torsade morphology and a swinging electrical axis.While the umbilical vein catheter was being inserted, there was sustained monomorphic ventricular tachycardia of 246 bpm which was terminated by two intravenous injections of lignocaine 1 mgkg. Five minutes later ventricular ectopic beats started to re-appear and a lignocaine infusion at 20 mg/kg/min was started. The serum potassium was 2.8 nmol/L and after correction of the acidosis and hypokalaemia, sinus rhythm appeared at a rate of 140 bpm with a long QT interval.Once stabilised, the bab...
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