Schone syndrome is classically defined by four left-sided obstructive aetiologies; a supravalvular mitral membrane, a parachute mitral valve, subaortic stenosis (including webs) and coarctation of the aorta. Incomplete Schone complex involves 2 or 3 of the 4 characteristic obstructive features. We report a 64-year-old male with a profound intellectual disability and no known cardiac history who died unexpectedly. At autopsy, an unusual constellation of cardiac malformations was observed including subaortic stenosis with web formation, coarctation of the aorta between the left common carotid and left subclavian artery, an aneurysmal dilated aortic root, and left ventricular hypertrophy. In addition, the right coronary artery was discontinuous, terminating mid-way up the right atrium. These gross pathological findings concord with criteria for an incomplete Schones complex, however proximal coarctation of the aorta is unusual, and additional abnormalities without classic mitral valve involvement were present. Phenotypic features of short stature, low set ears, broad nose and smooth nasolabial folds could be in keeping with DiGeorge Syndrome (22q11.2 deletion syndrome). DiGeorge syndrome can be associated with cardiac malformations, including aortic arch anomalies. We are unaware of any other similar published case; this case may represent a novel constellation of cardiac and phenotypic abnormalities.
Osborne et al. (Sun,) studied this question.