AHO, Pseudohypoparathyroidism, and Bicuspid Aortic Valve


I'm caring for an patient with AHO and Pseudohypoparathyreoidism. Also she is suffering from aortic stenosis caused by a bicuspid aortic valve. Is there any known linkage between AHO and bicuspid aortic valve ? Sincerely yours, Dr P.Matheiowetz


Thanks for your query. I recommend you contact Dr. David Cole in Toronto and he would have further insights. Patients with 2q37 deletion have been reported with an Albright hereditary osteodystrophy (AHO)-like phenotype and ductus arteriosus and possible bicuspid aortic valve (see Reddy KS et al 1999 Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet 84: 460-468 and references therein – see Table 1). Yours sincerely, Geoff Hendy, MD