ZANYA

  This syndrome was discovered in 1938 by Henry Turner. Turner Syndrome occurs only in females. The X chromosome has long arms and short arms. The arms carry genetic materials (genes). In Turner syndrome, there is a missing gene on a short arm, and that arm /chromosome becomes non-functional. The non-functional chromosome is represented by O. Turner syndrome is also called Monosomy X, and represented as XO or 45XO. In monosomy, you are missing some tissue somewhere because you are missing a chromosome. Most common cause is NON-DISJUNCTION. During ANAPHASE in both meiosis and mitosis, there is an equal separation of chromosomes to both sides of the cell. This process is known as DISJUNCTION. One mistake that can take place during DISJUNCTION is an unequal/incorrect separation of chromosomes and this is known as NON-DISJUNCTION, resulting in cells having an incorrect number of chromosomes.   CLINICAL FEATURES: 1. Short stature (classical hallmark of Turner syndrome). ...

  Narrowing of the lumen in a portion of the aorta. This then leads to the heart having to pump harder. Eventually, the left ventricle becomes hypertrophied. The pressure before the coarctation will be higher, therefore there will be an increase in Blood Pressure( BP) in the upper extremities. The pressure after the coarctation will be lower and hence there will be low BP in the lower extremities and   decreased perfusion in the lower extremities. Coarctation of the aorta is more common in men. It is seen in about 20% of patients with Turner Syndrome. A coarctation distal to the ligamentum arteriosum is a postductal type or adult type. A coarctation proximal to the ligamentum arteriosum is a preductal type or infantile type.   CLINICAL FEATURES 1.       Increased BP in upper extremities. 2.    Differential pulses (pulses will be stronger above the point of coarctation than below the point of the coarctation). If the coarc...

  TOF is caused by anterosuperior displacement of the infundibular septum. It is the most common CONGENITAL CYANOTIC HEART DISEASE that extends beyond the period of infancy and has the best prognosis in adults. The 5Ts of Cyanotic Congenital Heart Diseases are: -Truncus arteriosus -Transposition of the great arteries -Tricuspid atresia -Tetralogy of Fallot -Total Anomalous Pulmonary Veinous Return. All the above are RIGHT TO LEFT SHUNT.   COMPONENTS OF TOF: Using the mnemonic ‘PROVe’, the components of TOF are; -P =Pulmonary stenosis -R=Right ventricular hypertrophy -O= Overriding aorta Ve= Ventricular septal defect (VSD)   TOF + Atrial Septal Defect= Pentad of Fallot CLINICAL FEATURES: -Squarting on exercise. Patients with TOF like to assume a squarting position. This compresses the femoral artery and so blood flow through the aorta becomes difficult to move forward and so aortic pressure becomes high. Blood flow to the aorta becomes l...