Rare Etiology Of Syncope In A Collegiate Fencer

HISTORY: This is an 18-year-old female collegiate athlete who presented for her pre-participation physical prior to the start of her collegiate fencing career. She recently moved from India to pursue education and athletics in America. Her past medical history included anxiety, requiring prescription medications, and leading to irregular eating habits in the past. One significant portion of her history is that she was fencing two years prior to the presentation and began to feel dizzy and had two episodes of syncope and pre-syncope. She went on to continue to compete in fencing tournaments after these events with no issues. PHYSICAL EXAMINATION: Her physical exam was grossly unremarkable. She was a pleasant female seated comfortably, without Marfan stigmata Her cardiac and respiratory exams were within normal limits. Her musculoskeletal exam did not reveal any abnormalities. DIFFERENTIAL DIAGNOSIS: 1. Anxiety 2. Congenital Heart Disease 3. Anemia 4. Cardiac Arrhythmia 5. Postural Orthostatic Tachycardia Syndrome TEST AND RESULTS: 1. Hemoglobin Electrophoresis: No abnormal hemoglobin. Increased hemoglobin A2 (5.2%), microcytosis (MCV 66 fL) and mild anemia (Hb 10.8g/dL) are consistent with heterozygous beta-thalassemia (carrier state). Electrocardiogram normal sinus rhythm. Transthoracic Echocardiogram: Normal left ventricular size and systolic function with no regional wall motion abnormalities. The ejection fraction as calculated by the modified Simpsons method is 60%. No left ventricular hypertrophy. The aortic valve appears quadricuspid with four relatively equal-sized cusps and no stenosis or insufficiency. FINAL WORKING DIAGNOSIS: Beta thalassemia minor complicated by incidental finding of congenital quadricuspid aortic valve. TREATMENT AND OUTCOMES: 1. MRA of the aorta 2. Vitamin supplementation for anemia 3. Annual Transthoracic Echocardiogram 4. Lifting restriction of less than 50% of body weight 5. Screen first-degree family members for valvular abnormalities.