Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome.

Marfan syndrome (MFS) is an autosomal dominant condition which may involve the cardiovascular, ocular, skeletal, and other systems. Mutations causing MFS are found in the FBN1 gene, encoding fibrillin-1, an extracellular matrix protein involved in microfibril formation. In the most severe cases, mutations are generally found in exons 24-32, and children with these mutations usually die in the first years of life, of cardiopulmonary failure. We present clinical, molecular and histopathological studies on a patient with severe early onset MFS. He has a mutation in exon 25 of FBN1, a G>A transition at nucleotide position 3131 that converts the codon TGC, coding for cysteine at position 1044, to TAC, coding for tyrosine (C1044Y). This has resulted in abnormalities of the extracellular matrix and a severe clinical phenotype, although he has survived to the age of 14 years.

Transcatheter embolisation of coronary artery fistulae.

BACKGROUND: Most children with coronary artery fistulae are asymptomatic, but because of associated late morbidity, early intervention is usually indicated. AIM: To assess the outcome following transcatheter embolisation of coronary artery fistulae. PATIENTS AND METHODS: Six children, with a median age of 9.5 years (range: 1.3-13.7 years), underwent transcatheter embolisation of coronary artery fistulae. Four patients had simple fistulae, which drained from the right coronary artery to the right ventricle (n = 2), the left coronary artery to the right ventricle (n = 1), or the left coronary artery to the coronary sinus (n = 1). Two patients had complex multiple fistulae arising from both coronary arteries, which communicated with either the right ventricle or the pulmonary arterial system. RESULTS: A stable position with a 5-Fr coronary catheter was obtained proximally and a 3-Fr coaxial catheter was advanced through the coronary catheter to a distal position in the coronary artery fistulae. The number of embolisation microcoils used per procedure ranged from one to 12, and the coil diameter ranged from 3 mm. Polyvinyl alcohol foam embolisation particles (1000 microm) were used to embolise small fistulae to the pulmonary arterial tree. Complete occlusion was obtained in four patients, while two children were left with insignificant residual shunts. There were no early or late cardiac complications. CONCLUSION: Transcatheter embolisation of coronary artery fistulae is a safe and effective therapy in patients with suitable anatomy.

Pulmonary veno-occlusive disease: diagnosis during life in four patients.

Pulmonary veno-occlusive disease is a rare form of primary pulmonary hypertension of unknown aetiology. Four cases were diagnosed in young patients. The diagnosis was suspected on the basis of clinical, radiological, echocardiographic, and catheter evidence and confirmed by taking a lung biopsy sample. In all patients the histology showed obstruction of the pulmonary veins by intimal fibrosis. The clinical course of all patients has been one of progressive deterioration. Although there is no specific treatment for this disease, to establish the diagnosis during life is of great importance in overall clinical management, including counselling the patient and family.

The surgical management of aortopulmonary window using the anterior sandwich patch closure technique.

Between 1969 and June, 1986, 13 patients with aortopulmonary window were evaluated and operated upon with eleven survivors. All were children with ages ranging from 2 weeks to 2 1/2 years and had a typical aortopulmonary window (Type 1) with a connection between the ascending aorta and main pulmonary artery. Six of them also had associated cardiac anomalies. Operative techniques included both closed and open procedures. Simple ligation was carried out in two, while the remaining 11 patients were operated upon with the aid of extracorporeal circulation. "Sandwich" patch closure was the preferred method which was employed in 7 patients.

Echo Doppler assessment of cardiac output and its relation to growth in normal infants.

In a study of 38 normal infants, serial measurements of systemic (n = 169) and pulmonary (n = 143) blood flow were undertaken from the ages of 2 weeks to 12 months by 2-dimensional, M-mode and pulsed Doppler echocardiography. Cardiac output changed linearly (cardiac output = 0.3 X height -0.99 liter/min), and cardiac index was validated as a means for standardizing cardiac output in infants younger than 10 to 13 months of age. Infants younger than 2 months had lower cardiac indexes and stroke volume indexes (2.6 +/- 0.7 liters/min/m2 and 19 +/- 5 ml/m2, respectively) compared with those aged 12 months (3.2 +/- 0.7 liter/min/m2 and 25 +/- 5 ml/m2, respectively). Changes in cardiac output in individual infants over time suggest nonmorphometric modulating factors for cardiovascular function.

Fetal echocardiography: experience and reason.

Improvements in echocardiographic techniques have allowed detailed study of the fetal heart by experienced paediatric echocardiographers. We report 40 studies in 36 fetuses from 18 to 38 weeks' gestation whose mothers were referred for the assessment of fetal hydrops or arrhythmia or because of a family history of congenital heart disease. Normal, or probably normal, cardiac structure was demonstrated in 29 studies and abnormal, or probably abnormal, structure in seven. In four studies the imaging was inadequate and an opinion was deferred until further study. In this series, the sensitivity and specificity of the technique was 100% and 95% respectively. Fetal echocardiography is useful in pregnancies at high risk of fetal heart disease and for the further study of developmental cardiology. The results of such studies include the optimal management of pregnancy and delivery of high-risk neonates, and the allaying of parental anxiety.

Pulmonary sequestration in a newborn mimicking cardiac disease: a trap for diagnosis.

A case of pulmonary sequestration in a neonate presenting with hyperdynamic circulation and a murmur is reported. Clinical, radiographic and echocardiographic data suggested the diagnosis and this was confirmed by angiography. The surgical findings were those of sequestration of the right lower lobe, in conjunction with an accessory right lung complete with bronchial and vascular supply arising from the region of the lower oesophagus. Pulmonary sequestration may mimic primary cardiovascular disease in the neonate.

Cardiovascular manifestations of Kawasaki disease in an Australian population.

Over a three-year period, 30 children were admitted to the Royal Alexandra Hospital for Children, Sydney, with a diagnosis of Kawasaki disease. Of these, 26 children underwent echocardiography which demonstrated coronary artery aneurysms in five. Angiography was performed in one patient whose aneurysm did not resolve spontaneously. No patient suffered significant morbidity, and none died.

Surgical division of right and left free wall accessory atrioventricular electrical connections in a child with incessant supraventricular tachycardia.

A child with Wolff-Parkinson-White syndrome developed incessant supraventricular tachycardia refractory to medical therapy and countershocks. Supraventricular tachycardias incorporating both right and left free wall accessory atrioventricular electrical connections were demonstrated. The more frequent, broad complex tachycardia utilised both the accessory connections and was independent of the atrioventricular node. The less frequent, narrow complex tachycardia utilised the atrioventricular node for anterograde conduction and the left sided accessory connection for retrograde conduction. Surgical division of the accessory connections restored normal sinus rhythm and eliminated supraventricular tachycardia.

Total anomalous pulmonary venous connection. Long-term results following repair in infancy.

Twenty-three infants, aged 5 days to 10 months, underwent repair of total anomalous pulmonary venous connection (TAPVC). Coronary sinus drainage was unusually common, accounting for 39 percent of the total. There were three early and four late deaths. Although the hospital deaths were related to perioperative errors, two of the infants appeared to have small left ventricles. Two late deaths in infants with coronary sinus drainage were due to obstruction to pulmonary venous return some distance proximal to the surgical anastomosis. All 16 survivors were well at last review, one after revision of his repair. Fifteen have undergone late reassessment, and one of these, also with coronary sinus drainage, showed evidence of pulmonary venous obstruction. Although the early survival rate is satisfactory, the late mortality rate has been significant and the high incidence of pulmonary venous obstruction in infants with coronary sinus drainage is of particular concern.