ABSTRACT
An infant girl, born small for gestational age, with abnormal single creases on the fifth digits, subsequent severe developmental delay, hypertelorism, bilateral equinovalgus deformities, grade IV genitourinary reflux and mild right hydronephrosis, was found to have an inverted duplication of the short arm of chromosome 16 [46,XX; inv dup (16) (p 13.3-->p 11.2]. The cardiac anomalies included a large perimembranous ventricular septal defect (VSD) and a moderate-sized atrial septal defect (ASD). Cardiac catheterization at 6 months of age revealed systemic level pulmonary artery pressure, bilateral pulmonary venous desaturation, and in room air a pulmonary/systemic blood flow ratio (Qp/Qs) of 0.8:1.0, which did not change significantly with administration of oxygen and nitric oxide. To our knowledge, this is the first description of early nonreactive pulmonary vascular disease in a patient with duplication 16p and a large VSD.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 16 , Hypertension, Pulmonary/genetics , Trisomy , Female , Hemodynamics , Humans , Infant, Newborn , KaryotypingABSTRACT
We compared the results of stent implantation for pulmonary artery stenoses in patients weighing <20 kg (group 1, 17 patients, 21 stents) versus those weighing > or = 20 kg (group 2, 11 patients, 13 stents). There was no significant difference in the mean percent increase in diameter or mean percent gradient reduction acutely and at short-term follow-up between group 1 and 2 patients.
Subject(s)
Arterial Occlusive Diseases/therapy , Pulmonary Artery , Stents , Adolescent , Body Weight , Cardiac Catheterization , Catheterization/adverse effects , Child , Child, Preschool , Follow-Up Studies , Humans , Infant , Risk Factors , Stents/adverse effectsABSTRACT
Deletion of the short arm of chromosome 18 provides a highly variable phenotype. Mental retardation, short stature, and abnormal facies are invariably present. About 9 percent of patients with this syndrome have cardiac pathology. An additional case with congenital heart disease has been presented along with a review of the literature concerning the association of congenital heart disease and the 18p- syndrome.