The persistence of myocardial sinusoids in both ventricles as an isolated anomaly is described. A 21-year-old patient had progressive heart failure considered as cardiomyopathy of obscure etiology. Two-dimensional echocardiography demonstrated channel-like structures in the thickened myocardium of both hypokinetic ventricles. Angiography showed a honeycomblike inner contour in both ventricles. Autopsy proved the diagnosis of persistent sinusoids in a thickened myocardium.

Objective: To evaluate immediate and midterm results after balloon valvoplasty in a paediatric population with congenital aortic stenosis, giving special consideration to aortic regurgitation. Design: Retrospective study. Setting: Two tertiary referral centres for paediatric cardiology. Patients: 70 consecutive patients, with an age range of 0-16.4 years. Group A infants , 3 months old (n = 21). Group B children . 3 months old (n = 49). Median follow up time was 19.8 months, range 0-158 months. Intervention: All patients underwent balloon aortic valvoplasty. The balloon to annulus ratio was selected at a mean of 0.90 (range 0.67-1.0). Main outcome measures: Doppler gradients and degree of aortic regurgitation. Results: The pressure gradient dropped significantly with the intervention and increased mildly at follow up. Freedom from relevant aortic regurgitation (that is, moderate and severe) was initially lower in group A (75% v 90% after one month) but after two years the difference between the two groups was not significant (50% v 61%). Freedom from reintervention was significantly lower in group A (with 35% v 80%) after three years. Conclusion: Aortic balloon valvoplasty is safe and effective but has a high rate of early reintervention in infants with critical aortic stenosis. The major long term problem is progressive aortic regurgitation, which does not seem to be prevented by the use of small balloons.

No abstract

Hypergalactosaemia was discovered in a newborn girl during routine metabolic screening. Hereditary enzyme deficiency was ruled out. Because hypergalactosaemia persisted, an open ductus venosus Arantii was suspected but remained undetected by conventional two-dimensional ultrasonography. It was demonstrated by combined colour and pulsed wave Doppler sonography. At age 3 years 6 months, the girl developed initial symptoms of portosystemic encephalopathy which progressed and was treated by protein restriction, oral lactulose and flumazenil, with some success. In the absence of enzyme deficiency, hypergalactosaemia in the newborn is an early sign of duct persistence. For the unambiguous diagnosis of an open duct, colour Doppler sonography is the method of choice. Pulsed wave Doppler sonography is recommended for pathophysiological characterisation of the splanchnic venous return.

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.