Unilateral left Pulmonary Artery Agenesis with Pulmonary Hypertension: Unusual First Presentation.

Introduction: Unilateral absence of pulmonary artery is arare congenital disorder. We present here the case of Unilateralleft pulmonary artery agenesis with pulmonary hypertension.Case Report: A 33-year young male patient presented toour tertiary care hospital in the out-patient department withcomplaints of shortness of breath on exertion for 7 months andbilateral feet swelling for 6 months. Routine investigationswere within normal limits except 2 dimensional ECHOshowed right atrium and right ventricle dilatation with severepulmonary artery hypertension and 60% left ventricularejection fraction. Patients with isolated right pulmonary arteryagenesis commonly survive into adulthood with minimal orno symptoms, which makes their identification challenging.But our patient had left pulmonary artery agenesis whichhas significant association of life threatening cardiovascularmalformations with left-sided UAPA and surgical repair isoften required during the first year of life. None of which ispresent in our patient which is unsusual.Conclusion: Clinicians should be aware that recurrentrespiratory infections may be presenting feature ofUAPA. Initial investigation is usually a chest radiograph.Echocardiography is required for evaluation of possiblepulmonary hypertension. Confirmation of the diagnosis andanatomic details can be discerned by CT scanning and MRI.Angiography is reserved for patients requiring embolizationor revascularization surgery.Present case demonstrates a rare presentation of UAPA asright heart failure in first visit.

Hyperhomocystetenemia, MTHFR Mutation Presenting as Unprovoked Pulmonary Embolism.

Introduction: For MTHFR as with homocysteine testing,no official guidelines exist as to who should be tested.Homozygosity for the MTHFR C677T mutation has beenassociated with an increase in blood clotting together withplasma homocysteine increase and DVT occurrence risk.Case report: A 28 year young male patient presented withcomplaints of sudden onset breathlessness for 5 days. Theepisodes of breathlessness were associated with diffuseanterior chest pain. There was no history of leg pain, cough,sputum, hemoptysis, fever. No history of prior hospitalization,trauma, surgery and immobilization could be elicited from thepatient. He was a non smoker with no other comorbidities.On presentation his pulse rate was 120 per minute, respiratoryrate was 22 per minute, blood pressure 146/92 mm Hg,temperature 98.8 ° F, SpO2 of 94% at room air. His generalphysical examination was unremarkable.Conclusion: Although it has been observed that elevatedhomocysteine levels are a common finding in patientswith cardiovascular disease and thrombosis, its role in itspathogenesis is still under evaluation. Homozygosity forthe MTHFR C677T mutation has been associated withincreased homocysteine levels. Testing for this mutation is animportant parameter in thrombophilia workup of patients withunprovoked VTE.