An 85 year old smoker presents with hypotension and sudden, severe abdominal pain. Physical exam reveals a pulsatile, non-tender mass below the umbilicus. What is the likely diagnosis?
A - Ruptured Abdominal Aortic Aneurysm
B - Marfan's syndrome
C - Raynaud's Phenomenon
D - Pompe Disease
E -...
An 85 year old smoker presents with hypotension and sudden, severe abdominal pain. Physical
exam reveals a pulsatile, non-tender mass below the umbilicus. What is the likely diagnosis?
A - Ruptured Abdominal Aortic Aneurysm
B - Marfan's syndrome
C - Raynaud's Phenomenon
D - Pompe Disease
E - Hereditary Spherocytosis - ANS A - Ruptured Abdominal Aortic Aneurysm
A 34 year old man visits his PCP with complaints of frequent cramping of his legs and hands at
his job in construction. He has smoked a pack of cigarettes every day for the past 10 years. The
physician notices swelling around a vein in his leg and decides to take a biopsy of it, showing a
thrombus without involvement of structures of the vessel wall. What is the most likely diagnosis?
A) Raynaud's phenomenon
B) Takayasu's arteritis
C) Buerger's disease
D) AV fistula
E) Giant cell arteritis - ANS C) Buerger's disease
A 72 year old male presents to the ED with chest pain. Attached are the findings on the CT
angiogram of his descending aorta. It shows a large penetrating aortic ulcer above the
diaphragm. Which of the following is a major complication of both penetrating ulcers and
intramural hematomas?
A - Arteriovenous fistula
B - Aortic rupture
C - Pulmonary hypertension
D - Venous thromboembolic disease
E - Deep vein thrombosis - ANS B - Aortic rupture
A 60-year-old male patient complains of shoulder pain, visual disturbances and a headache.
Physical and Laboratory tests reveal low grade fever, scalp-tenderness and significantly
elevated C-reactive protein. Diagnosis is confirmed via histologic examination of arterial tissue,
,showing infiltration of "giant cells" in the vascular wall. Which of the following is the best course
of treatment for the patient?
A) Calcium channel blockers
B) High dose corticosteroids
C) Transcatheter embolization
D) Corticosteroids and surgical revascularization
E) Tobacco abstinence
F) Low dose corticosteroids then increase dose over time - ANS B) High dose
corticosteroids
A 27 year old Asian female presents to the clinic with coronary ischemia and congestive heart
failure. Physical findings include bruits over the aorta with diminished brachial pulses. What is
the most appropriate first-line treatment step?
A) Folate
B) Gentamicin
C) Corticosteroids
D) Zanamivir
E) Amlodipine - ANS C) Corticosteroids
Darla comes into the emergency department yelling and running around. She throws up all over
the doctor and suddenly loses consciousness. Quick testing shows that she has an abundant
amount of cocaine in her system. A CT scan confirms Darla has an aortic dissection and needs
immediate care. The scan shows a complete aortic dissection. What type of dissection does
Darla have ?
A) Type I
B) Type III
C) Type A
D) Type II
E) Type B - ANS A) Type I
A 60 year old male presents to the office with complaints of severe calf pain while completing
his daily walk for the past 3 weeks. He states that the calf pain is alleviated when he returns
home and rests. He also feels as though he is losing hair on his legs and toes despite no
change in diet or toiletries. Upon physical exam, it is noted that the skin to his lower extremities
are shiny and have a cyanotic tint. The most likely diagnosis is:
,A 40 year old female presents to her PCP complaining of recurrent episodes of pallor followed
by cyanosis and then erythema of her fingers and toes. She states that she experiences these
symptoms particularly in colder temperatures. The physician prescribes a calcium channel
blocker to reduce the frequency and severity of her symptoms. What is the most likely diagnosis
for this patient?
A 5-year-old female presents with retinoblastoma and is confirmed to have inherited a mutant
Rb1 allele. Although her father wasn't affected, his own mother was. Family history is
insignificant on her mother's side. What is the most likely reason her father never exhibited a
disease phenotype?
A. The father did not possess a disease-causing genotype
B. Variable expression
C. Germline mosaicism
D. Incomplete penetrance
E. Locus heterogeneity - ANS D. Incomplete penetrance
A 6-year-old patient is diagnosed with a mutation in the CFTR gene. As the disease progresses
what phenotype would not present in the patient?
A. Fibrotic lesions in the pancreas
B. Cystic medial necrosis
C. Inability to reabsorb chloride from the lumen of sweat glands
D. Pulmonary fibrosis
E. Chronic malabsorption of nutrients - ANS B. Cystic medial necrosis
The 3-year-old child of a young couple has just been diagnosed with cystic fibrosis, an
autosomal recessive disorder. Recently it has come to light that the couple shares familial
lineage and are technically cousins. What phenomena best explains the increased risk of this
autosomal recessive disorder in their child?
A. Variable expression
B. Allelic heterogeneity
C. Consanguinity
D. Locus heterogeneity
E. Marfan syndrome - ANS C. Consanguinity
, A 35-year-old patient is diagnosed with a mutation in the NF1 gene. What clinical features would
present in this patient?
A) Café-au-lait spots & Lisch nodules
B) Myopia & arachnodactyly
C) Aspiration pneumonia
D) Long limbs & narrow face
E) Bronchial infection - ANS A) Café-au-lait spots & Lisch nodules
A married couple decides that they want to start to try and have children; before beginning to try
they decide to conduct a genetic screening as the man has concerns as his family has a history
of Tay-Sachs. The counselor confirms to the man that he and, in fact, his wife are both carriers
for Tay-Sachs. The couple is now considered for the risk of having a child dominant for
Tay-Sachs, what is the recurrence risk of Tay-Sachs disease in this situation?
A. 50%
B. 25%
C. 33%
D. 100%
E. 0% - ANS B. 25%
Postaxial polydactyly, the presence of an extra digit next to the fifth digit, is inherited as an
autosomal dominant trait. A newborn male is found to have six digits on his hands. The father is
a homozygous, unaffected parent. Which of the following cases is a possible explanation as to
why the newborn has postaxial polydactyly?
a. The mother of the child is heterozygous and affected for postaxial polydactyly
b. The mother of the child is heterozygous and unaffected for postaxial polydactyly
c. The mother of the child is homozygous and unaffected for postaxial polydactyly
d. Postaxial polydactyly is also X-linked, so the mother must either be homozygous or
heterozygous for postaxial polydactyly.
e. The newborn's phenotype is an example of incomplete penetrance - ANS a. The mother
of the child is heterozygous and affected for postaxial polydactyly
An 11-year-old male presents to his pediatrician for a well-child examination. During the visit, the
child expresses interest in getting a sports physical—his middle school gym teacher has been
encouraging him to try out for the basketball team because of his flexibility, tall height, long
arms, and lengthy fingers. Concerned the patient may have an autosomal dominant condition,
the pediatrician conducts some tests. The Walker Murdoch wrist sign and Steinberg thumb sign
are both positive, the patient's arm span is about 3 inches greater than his height, and ocular
examinations reveal no myopia or displaced lens. The patient has no history of chest pain,
shortness of breath, or heart palpitations with exercise and his aortic root diameter falls within
the normal range. Genetic testing reveals the pediatrician's initial suspicion for a diagnosis is
wrong—the patient has a disorder caused by a mutation in a homologo - ANS D. FBN2
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