Citro, Rodolfo
Mayo Clinic
Department of Medicine and Health Science, University of Molise, Campobasso, Italy (R.C.).
Citations 22
Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry
Bondy, Carolyn A., Maslen, Cheryl L. , Silberbach, Michael , Bossone, Eduardo , Citro, Rodolfo , Investigators, BAVCon Investigators, GenTAC Registry, LeMaire, Scott A. , Body, Simon C. , Prakash, Siddharth K. , Lin, Angela E. , Perrone, Laura , Limongelli, Giuseppe , Michelena, Héctor I. , Investigators, BAVCon Investigators, GenTAC Registry, Milewicz, Dianna M. , Bossone, Eduardo , Citro, Rodolfo
American Journal of Medical Genetics Part A | September 8, 2016 | Volume: 170 | Issue: 12 | Pages: 3157-3164
Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left‐sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30–50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome‐wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein‐coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non‐syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.
The pathology and pathobiology of bicuspid aortic valve: State of the art and novel research perspectives
Mathieu, Patrick , Huggins, Gordon S. , Pîbarot, Philippe , Boulanger, Marie‐Chloé , Evangelista, Arturo , Bédard, Élisabeth , Citro, Rodolfo , Body, Simon C. , Nemer, Mona , Schoen, Frederick J. , Bossé, Yohan , Corte, Alessandro Della , Pibarot, Phillippe , Michelena, Héctor I. , Limongelli, Giuseppe , Citro, Rodolfo
The Journal of Pathology: Clinical Research | April 11, 2015 | Volume: 1 | Issue: 4 | Pages: 195-206
AbstractBicuspid aortic valve is the most prevalent cardiac valvular malformation. It is associated with a high rate of long‐term morbidity including development of calcific aortic valve disease, aortic regurgitation and concomitant thoracic aortic aneurysm and dissection. Recently, basic and translational studies have identified some key processes involved in the development of bicuspid aortic valve and its morbidity. The development of aortic valve disease and thoracic aortic aneurysm and dissection is the result of complex interactions between genotypes, environmental risk factors and specific haemodynamic conditions created by bicuspid aortic valve anatomy. Herein, we review the pathobiology of bicuspid aortic valve with a special emphasis on translational aspects of these basic findings. Important but unresolved problems in the pathology of bicuspid aortic valve and thoracic aortic aneurysm and dissection are discussed, along with the molecular processes involved.