Researchers Identify Rare Cantú Syndrome as Genetic Form of Heart Failure

“The mechanism of high-output cardiac hypertrophy arising from potassium channel gain-of-function in Cantú syndrome,” published ahead of print in the journal Function, identifies the rare disorder Cantú syndrome as a genetic type of heart failure distinct from other forms of the condition.

According to medical literature, Cantú syndrome has been reported to affect fewer than 40 people worldwide. Characteristics of the syndrome include an abnormally large head, excessive growth of body hair and heart defects. An enlarged heart muscle (cardiomegaly) and thickening of the walls of the heart’s lower chambers (cardiac hypertrophy) are common in Cantú syndrome.

“Our results identify a high-output cardiac hypertrophy phenotype of [Cantú syndrome] which is etiologically and mechanistically distinct from other myocardial hypertrophies, and which exhibits key features of high-output heart failure (HOHF). We propose that [Cantú syndrome] is a genetically defined HOHF disorder and that decreased vascular smooth muscle excitability is a novel mechanism for HOHF pathogenesis,” the authors wrote.

Article title: The mechanism of high-output cardiac hypertrophy arising from potassium channel gain-of-function in Cantú syndrome

Authors: Conor McClenaghan, Yan Huang, Scot Matkovich, Attila Kovacs, Carla Weinheimer, Ron Perez, Thomas Broekelmann, Theresa Harter, Jin Lee, Maria remedy, Colin Nichols.

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