aortic stenosis is functionally and structurally a disease of entire aortic root.
We performed successful surgical repair of extended aortoplasty using Doty's method (two sinus reconstructions) for congenital supravalvular
Williams syndrome (WS) is a rare multisystemic disorder caused by a microdeletion of chromosome 7 and is associated with dysmorphic facial features, supravalvular
aortic stenosis (SVS) and other cardiovascular diseases, mental retardation, infantile hypercalciemia, and growth deficiency.
Aortic diameters were obtained at the levels of annulus, sinus of Valsalva and at the supravalvular
level in the parasternal long-axis view by M-Mode echocardiographic examination.
Mitral valve anomalies and supravalvular
Brother Harley, seven, who also has supravalvular
aortic stenosis, will soon need a similar procedure but Leanne is optimistic after Joey's surgery.
One case presented with VSD, and the diagnosis was established by MLPA with P064 probe mix (26), a second case reported to have supravalvular
aortic stenosis (SVAS), leading to testing by FISH analysis WS specific probe (29) and the third case presented with SVAS, IUGR, interhemispheric cyst, and nasal bone hypoplasia and the deletion on 7q11.23 was identified using array-CGH (30).
Giyawali's daughter Sujita, was diagnosed with Heart Severe Supravalvular
, a heart defect, at birth and needed to undergo a surgery, which would cost approximately Dh12,500 (NRS400,000), excluding medication and hospital bills.
However, increasing maternal vitamin D dose increases the fetal calcium concentration and can lead to defects similar to those of idiopathic hypercalcemia of infancy (58) with features like elfin facies, strabismus, inguinal hernia, mental and growth retardation, craniosynostosis, enamel defects, supravalvular
aortic and pulmonary stenosis, early development of secondary sexual characteristics in females, and cryptorchidism in males.
Patients with predominantly subvalvular, supravalvular
or branch PS, pulmonary atresia, severe tricuspid annulus hypoplasia (<-4 Z score), coronary circulation dependent on the right ventricle, post surgery critical pulmonary stenosis, patients with any other CHD that needed treatment in the neonatal period and patients with large ASD or VSD (but not PFO or small VSD) were excluded from the study.
Long-term complications include supravalvular
pulmonary outflow obstruction, neo-aortic regurgitation and arrhythmias.