Inverted-Takotsubo pattern cardiomyopathy secondary to pheochromocytoma: a clinical case and literature review.

Takotsubo cardiomyopathy is an increasingly recognized clinical syndrome of transient left ventricular dysfunction, commonly with apical ballooning, in the context of physical or emotional stress. Recently, an inverted-Takotsubo contractile pattern has been described with hypokinesis of the basal and mid-ventricular segments and sparing of the apex. We report a case of a 30-year-old man presenting with transient left ventricular dysfunction in an inverted-Takotsubo contractile pattern, associated with a newly discovered pheochromocytoma, and present a literature review of the inverted-Takotsubo contractile pattern cardiomyopathy.

Chorein detection for the diagnosis of chorea-acanthocytosis.

Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed.