Illness Scripts

Aortic stenosis is a valvulopathy due to the aortic valve obstructing blood flow from the left ventricle to the aorta, presenting as syncope, angina, and dyspnea. It is diagnosed with echocardiography and treated in symptomatic patients with an aortic valve replacement.

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Coronary artery disease is a heart disease where the coronary arteries supplying the heart muscles with blood have impaired flow, presenting with chest pain, ischemia, myocardial infarction, and sudden cardiac death. It is diagnosed clinically, with ECG, or with stress testing. It is treated with medications and stenting/ bypass.

Crohn’s disease is an inflammatory bowel disease most commonly affecting the ileum and the colon, presenting with diarrhea, abdominal, abscesses, fistulas, and bowel obstruction. It is diagnosed with colonoscopy and imaging and is treated with 5-aminosalicylic acid, corticosteroids, immunosuppresants, and antibiotics. Surgery may be necessary but is not currative.

Cryptorchidism is when a testis fails to descend into the scrotum. It is diagnosed clinically and corrected with surgery between the ages of 6 and 12 months.

Down syndrome is a chromosomal condition due to mutations relating to chromosome 21 resulting in intellectual disability and physical abnormalities. It is diagnosed by genetic testing and treated based on manifestations.

Ectopic pregnancy occurs when an egg implants outside of the uterus, presenting as pelvic pain and bleeding. It is diagnosed with beta-hCG level and pelvic ultrasound. It is treated with methotrexate or surgery.

Endometriosis is the implantation of endometrial tissue outside of the uterus, resulting in dysmenorrhea, dyspareunia, and infertility (along with location-specific symptoms). Diagnosis is through direct visualisation and treatment is ovarian suppression and surgery.

Erythema infectiousum is a viral infection resulting in a rash. It is diagnosed clinically and treated supportively.

Fragile X Syndrome is a X-linked dominant genetic mutation resulting in multiple facial abnormalities and intellectual disability. It is diagnosed with genetic testing and treated with supportive care.