Cardiovascular manifestations in 75 patients with Williams syndrome.

OBJECTIVE: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 Williams syndrome (WS) patients aged 4 months to 76 years (median 22.7 years). STUDY DESIGN: The diagnosis of WS was in each case confirmed by the clinical phenotype and by a FISH test showing elastin hemizygosity. Clinical and operative data were collected from all hospitals where the patients had been treated. RESULTS: Cardiovascular symptoms were evident in 35 of 75 (47%) WS children at birth. During follow up, 44 of 75 (53%) WS patients were found to have cardiovascular defects. Among them, the definitive diagnosis was made before 1 year of age in 23 (52%) infants, between 1 year and 15 years of age in 14 (32%) children, and older than 15 years of age in 7 (16%) adults. Multiple obstructive cardiovascular diseases were found in six infants. Supravalvular aortic stenosis (SVAS) was diagnosed in 32/44 (73%), pulmonary arterial stenosis (PAS) in 18/44 (41%), aortic or mitral valve defect in 5/44 (11 %) of cases, and tetralogy of Fallot in one (2%) case. Altogether, 17/44 (39 %) underwent surgery or intervention. Surgery was most frequently performed in the infant group (6% v 21% v 0%, p=0.004). After 1 year of age, seven patients underwent SVAS relief and two cases PAS relief. Postoperatively there was no mortality (median follow up time 6.9 years). Arterial hypertension was found in 55% of adults. In three adults, arterial vasculopathy was not diagnosed until necropsy. CONCLUSIONS: Our data indicate the following in WS. Cardiac symptoms are common in neonates. Heart disease diagnosed in infancy frequently requires operation. After 1 year of age, PAS tends to improve and SVAS to progress. Life long cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension.

Provocation of ventricular tachycardia by antimalarial drug halofantrine in congenital long QT syndrome.

This report deals with two patients who suffered sustained episodes of torsade de pointes ventricular tachycardia while using the novel antimalarial drug halofantrine. Both patients had congenital long QT syndrome, and their QT interval was further prolonged at the time of the event. This first electrocardiographic documentation of ventricular arrhythmias together with halofantrine's known prolonging effect on the QT interval demonstrates that the drug has the potential to induce life-threatening arrhythmias.

Natural course of juvenile autoimmune thyroiditis.

Forty-six patients with juvenile autoimmune thyroiditis were followed for an average of 6.5 years. The diagnosis was based on a firm goiter and on cytologic findings of lymphocytic thyroiditis. The thyroid function and the size of the thyroid gland were regularly evaluated, and thyroid cytologic findings reevaluated once about 4.5 years after the diagnosis was made. Initially, 24 patients were euthyroid, 16 subclinically hypothyroid, and six hypothyroid. At the end of follow-up, 29 patients were euthyroid, six subclinically hypothyroid, and 11 hypothyroid, but there had been an extensive exchange of individual patients among these three groups. At cytologic reevaluation, the changes were virtually unaltered. Thyroid antibodies and circulating immune complexes were repeatedly tested: on one or more occasions, 85% of the patients had positive test results for thyroid antibodies, and about 50% for circulating immune complexes. Hypothyroidism at the end of follow-up correlated with the initial hypothyroid state and with thyroglobulin antibodies of IgG class detected by enzyme immunoassay. The best predictors of the final hypothyroid state were female sex, initial hypothyroidism, IgG thyroglobulin antibodies by EIA, and IgG circulating immune complexes assayed by conglutinin-binding test-EIA.

Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

A family is presented in which three of four siblings had truncus arteriosus and other anomalies compatible with the third and fourth pharyngeal pouch syndrome (DiGeorge syndrome). The syndrome is uncommon and most of the reported cases have been solitary. In this family an autosomal recessive inheritance is possible.