Circulatory: Structure and Function Quiz

A mother brings her newborn infant to a physician’s office for genetic counselling. The baby has been shown to have the same Fibrillin-1 (FNB-1) mutation as the father. The expected diagnosis can be confirmed in the child by demonstrating

A 36 year old male comes to the clinic with complaints of distorted vision. He has recently immigrated to the US and doesn’t have a complete health history available. Other than the visual complaint he denies and recent trauma, headache, dizziness, change in dietary habits, pain, weakness, motor function, or sensation loss.

His prescreening vitals are below:

Height: 80”

Weight: 173 lbs

BMI: 19 kg/m²

HR: 81 beat/min

RR: 16 breath/min

BP: 126/81 mm Hg

Temp: 37°C (98.6°F)

Physical exam:

Patient is a tall thin European male in no acute distress. Further exam shows evidence of optical lens subluxation superiorly and temporally, mild pectus carinatum and noticeable arachnodactyly. All other findings are are unremarkable.

What cardiovascular risk would he also be susceptible to?

A mother brings her 16 year old son to the pediatrician’s office because he complains of shortness of breath when playing basketball. The shortness of breath has become troublesome over the past 2 months. He only plays the sport recreationally due to severe myopia. The patient has otherwise been well. Family history is positive for abdominal aortic aneurysm in the patient’s maternal grandfather.

Physical examination reveals a tall, slender adolescent with pectus excavatum. His fingers overlap when wrapped around the wrist and the distal phalanx of his thumb protrudes when making a fist around the thumb. Auscultation reveals a murmur over the left parasternal second intercoastal space, represented in the image.

When the most likely diagnosis is explained to the mother and boy, the mother asks if this is hereditary, given the family history. The physician explains that her son’s disease occurs in a different location which has

A 32 year old female presents to the clinic because of pain in her hands. She works as a secretary, but has had increased difficulty with her because of numbness and pain in her arms and fingers. The symptoms get worse with increased use. She has been feeling generally unwell for 1-2 months, with malaise, unplanned weight loss and occasional mild fevers.

Vital signs: Temperature: 99.6 F; HR: 99 /min; RR: 17 /min; SpO2: 97% on room air

• BP (right arm): 73/45 mmHg
• BP (left arm): 89/52 /mmHg

Physical examination: There are bilateral bruits heard over the right supraclavicular region and sternal notch. There are decreased radial pulses.

CT angiogram of aortic arch (representation):

If tissue became available from an affected region, it would most likely show

A 56 year old African American male presents to his cardiologist for continuing care of his coronary artery disease. He had an anteroseptal infarct 2 years ago and has been stable since. He has a history of obesity, hypertension and hyperlipidemia. In addition to medications, he has been is focusing on lifestyle modifications to manage the progression.

On the physical examination, a new bruit is heard in an artery in the right neck, lying just inside the medial edge of the sternocleidomastoid muscle at the level of the thyroid cartilage. This is most likely due to plaque found in the

A 58 year old male presents to his doctor with a 4 week history of blurry vision. The patient has had Type II diabetes mellitus for 12 years, now requiring treatment with insulin.

Laboratory testing:

• Urine albumin: 300 mg/24 hours
• HbA1c: 11.2%

Fundoscopic examination:

The most likely pathophysiologic explanation for the findings is