Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present ...

pulmonary arterial hypertension (pha) is a frequent complication of congenital heart disease (chd), most commonly in systemic-to-pulmonary shunt lesions. in patients with an uncorrected left-to right shunt, pah will end up to eisenmenger’s syndrome, which is contraindication of surgery. what about patients with moderate to severe pah, who do not have criteria of eisenmenger’s syndrome; immediat...

INTRODUCTION Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. CASE PRESENTATION A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed t...

The term “cardiac syndrome X” (CSX) was introduced more than 40 year ago by Kemp (1) who described a group of patients with angina-like chest pains and normal coronary artery angiograms. Since then, the mosaic of knowledge has gradually built up; however, the letter “X” in this term characterizes the fact that evidence and knowledge on this syndrome are still limited and controversial (2). CSX ...

New data suggest that persistent chest pain, despite normal coronary angiography, is less benign than previously thought. It has long been recognized that cardiac syndrome X (CSX) is associated with significant suffering, disability, and health care costs, but the biggest shift in thinking comes in terms of long-term risk. It is now recognized that the prognosis is not benign and that a signifi...

BACKGROUND The aim of the study was to examine the frequency of factor XIII polymorphism among patients with cardiac syndrome X (CSX). METHODS This study was designed as a cross-sectional and observational study. Forty-eight female patients with CSX and 36 controls matched by age, gender, diabetes, and hypertension were studied. CSX was defined as typical chest pain during rest or effort, abn...