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Perforation of the heart in a newborn with critical valvar pulmonary stenosis during balloon valvoplasty.

We describe the perforation of the right ventricular outflow tract with a 0.021 inch wire in a newborn infant with critical pulmonary valvar stenosis in an attempt to balloon dilatation of the pulmonary valve. The complication was diagnosed by contrast injection into the pericardium. The infant was followed with sector scan echocardiography and recovered completely from that injury. The dilatation was successfully repeated a few days later with the use of a soft tipped wire to cross the pulmonary valve.

Cardiomyopathy, Hypertrophic↗

Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.

We present an 11-year-old female with bullous ichthyosiform erythroderma (BIE), learning disability, patent ductus arteriosus and mild stenosis of the aortic and pulmonary arteries. Chromosome analysis showed the expression of the rare folate-sensitive fragile site FRA12A at 12q13 in 8/20 (40%) of blood lymphocytes cultured in folate-deficient medium in the presence of trimethoprim. Her mother and maternal grandmother are phenotypically normal, but her mother shows expression of the same fragile site in 4/20 (20%) of cells cultured under the same conditions. Lymphocytes from the grandmother only showed expression of the fragile site when cultured in the presence of methotrexate in folate deficient medium. Interestingly, two genes (keratin 1 and keratin 2e) which are known to cause BIE map to 12q13. Molecular data is presented excluding three candidate (CCG)n repeats within keratin 1 gene. We present a review of previously reported FRA12A cases and discuss possible molecular explanations for the clinical findings in this patient.

Aortic Valve Stenosis↗

Use of balloon angioplasty to treat peripheral pulmonary stenosis.

Balloon angioplasty was attempted in 13 children with peripheral pulmonary arterial (PA) stenosis. In 5 patients, angioplasty was successful in relieving the peripheral PA stenosis as judged by an increase in PA size of more than 75% over the predilatation size and a more than 50% reduction in the distal PA to main PA peak systolic pressure gradient. Each child has been followed for 6 to 30 months. All remain well, without signs of subsequent deterioration, and follow-up angiograms in 2 patients (at 10 and 12 months) showed persistence of anatomic and hemodynamic improvement. In 8 patients, angioplasty was unsuccessful: In 4 patients, stenosis at the site of a previous systemic-to-PA shunt could not be dilated and in 4 patients, angioplasty could not be performed because of technical difficulties. Thus, we could not dilate the stenosis in more than 60% of the patients; we also had a significant complication with the angioplasty procedure (perforation of a distal branch of the right pulmonary artery). Thus, although balloon angioplasty was not effective in all patients, it did provide significant improvement in some patients in whom traditional operative management is usually unsuccessful.

Adolescent↗