Moebius syndrome is a rare nonprogressive congenital neurological disorder with a wide range of severity and variability of symptoms. This diversity is a consequence of dysfunction of different cranial nerves (most often facial and abducens nerves), accompanying orofacial abnormalities, musculoskeletal malformations, congenital cardiac diseases, as well as specific associations of Moebius and o...

Quadricuspid aortic valve is a rare congenital heart defect usually detected by echocardiography or at the time of aortic valve surgery. Preoperative recognition of this abnormality has clinical significance because it is frequently associated with other congenital cardiac abnormalities and anomalies of coronary origin. We report a case of quadricuspid aortic valve, which was detected preoperat...

We report a case of congenital inferior wall left ventricular diverticulum (LVD), atrial septal defect and mental retardation detected by intraoperative transesophageal echocardiography. The combination of three features strongly suggests that genetic factors play important role in the pathogenesis of the disorder. Most LVDs are asymptomatic. Echocardiographers and cardiac anesthesiologists sho...

Congenital abnormalities are described as anomalies involving structure, metabolic or endocrine processes, or genetic coding that is present in the newborn at the end of the pregnancy. Neural tube defects are the most common abnormality of the central nervous system, probably second only to cardiac defects when considering major congenital anomalies. Representing a major public health concern, ...

Double-orifice mitral valve (DOMV) is a rare congenital malformation characterized by two separate valve orifices of varying sizes in association with the abnormalities of the subvalvular apparatus. It has been reported to be associated with a variety of other congenital malformations. We report a rare case of incomplete form of Shone's complex composed of a complete bridge-type DOMV and bicusp...

Scimitar syndrome or Felsons veno-lobar is a very rare congenital disease characterized by combination of cardiopulmonary abnormalities, including partial right-sided pulmonary venous drainage to the inferior vena cava, cavo-atrial junction, low on right atrium. We report case 53-year-old female patient who presented with recent gradually worsening dyspnea. The diagnosis was suspected chest x-r...

Repolarization abnormalities, including those induced by the congenital or acquired long QT (LQT) syndrome, provide a substrate for life-threatening cardiac arrhythmias. In this article, we use computational biology to link HERG mutations mechanistically to the resulting abnormalities of the whole-cell action potential. We study how the kinetic properties of I(Ks) (the slow delayed rectifier) t...

Introduction: As our experience and ultrasound resolution have improved significantly in last 30 years it is possible to detect most of the major cardiac abnormalities prenatally with high degree of accuracy. Method: Current screening techniques have poor detection rate for congenital heart diseases (CHD) and nearly half of the major cardiac abnormalities mainly of Great Arteries goes unrecogni...

Background: congenital foot deformities are among the most common congenital abnormalities causing morbidities, disturbing the normal gait and affecting patients’ quality of life. The aim of our study was to find out the prevalence of such abnormalities in neonates born at a referral center in northern Iran. Methods: This study was a descriptive cross-sectional study on the neonates born in ...