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Venous thromboembolism may be the primary presentation in patients with polycythemia Vera and essential thrombocythaemia and the incidence of venous thromboembolism increases with age [1]. The Janus kinase 2 (JAK2V617F) mutation is the main molecular marker of the Philadelphia-negative chronic myeloproliferative neoplasms, responsible for 95% of polycythemia; 50% of thrombocythemia Vera and myelofibrosis cases [2]. We report a case of 74 year-old-patient presenting with shortness of breath for 3 days. Past medical history (PMH) includes hypertension and previous basal cell carcinoma of the neck and nose for which patients had surgical reconstruction. The patient’s vital showed oxygen saturation of 94% on 15 Liters, tachycardia with heart rate > 110, blood pressure 110/60 mmHg, and respiratory rate of 27. Laboratory results showed D-Dimer > 80000 ng/mL, Troponin T 130 ng/l, and Haemoglobin 182 g/L. Computerized tomography pulmonary angiogram showed bilateral pulmonary emboli with right heart strain. He was given a treatment dose of Tinzaparin and underwent emergency EkoSonic™ Endovascular System-Directed Thrombolysis (EKOS). The patient stabilized post EKOS and his vital signs improved within a few hours after the procedure. Oxygen saturation improved to over 96% on 2-3 Liters and both tachycardia and tachypnoea improved. The patient has commenced on Apixaban 5 mg twice daily (BD). He tested positive for JAK2 mutation and met two major and one minor criterion for PV and was referred to Haematology for outpatient follow-up.

Congenital defects are main causes of new born and child anomalies and morality, which cause single or multiple defects in one or many organs of the child. Worldwide each year about 3 % of 134 million annual births are affected by major structural and functional defects. Birth defects may have a genetic infection or environmental sources but about 50 % of all congenital disorders still have no exact cause. This review article focuses on the causes of genetic disorders, types of genetic disorders, development of genetic disorders, epidemiology and prevention of genetic disorders.