Deck 16: Familial Thoracic Aortic Aneurysms and Dissections

Question 1

While examining a 20-year-old white male during a routine physical he reveals to you that his younger brother was recently diagnosed with a thoracic aortic aneurysm with dissection (TAAD). Which of the following is not an acceptable method to screen your patient for a possible TAAD?

A) MRI
B) Chest x-ray
C) CT
D) Echocardiogram

Answer 1

B
Explanation: Echocardiogram, CT and MRI are all appropriate screening methods to evaluate a first degree relative of a proband diagnosed with a thoracic aortic aneurysm and dissection (TAAD). Plain films (x-rays) are not a diagnostic imaging study of choice for TAAD, thus B is the correct answer. Abnormal chest x-ray findings should raise suspicion of TAAD. If an enlarged aortic knob or localized bulge, widened mediastinum, extension of the aortic shadow beyond a calcified wall, and longitudinal aortic enlargement, further diagnostic imaging should be performed. The loss of space between the aorta and the pulmonic artery on the PA view is also indicative but not diagnostic for an aneurysm or dissection.

Question 2

After performing an annual screening echocardiogram on a patient with a known history of a thoracic aortic aneurysm (TAA) with a previous ascending aorta dimension of 3.0 cm the patient is now found to have an ascending aorta dimension of 4.4 cm. What is the appropriate management of this patient?

A) Continue annual screening
B) Increase screening frequency to every 6 months
C) Refer the patient for prophylactic surgical repair
D) Order a CT scan to confirm the echocardiogram findings

Answer 2

C
Explanation: Criteria for prophylactic repair includes dilation that increases at a rate of 1.0 cm annually or the presence of aortic regurgitation. Thus, C is the correct answer as the patients' ascending aorta dimension increased by 1.4 cm. Annual screening is only appropriate for patients with stable aortic dimensions with diameter increases of less than 0.5 cm. For aortic diameters that increase by more than 0.5 cm, but less than 1.0 cm more frequent screening in necessary. Both echocardiogram and CT are appropriate tests to measure aortic diameter, and a confirmatory CT is unnecessary before proceeding to prophylactic surgical repair. Prophylactic repair is also recommended in patients with an ascending aorta diameter of 5.0 cm for patients with TAAD associated with TGFBR2 mutation and persons with a bicuspid aortic valve. For all other patients, the threshold for prophylactic repair is an ascending aortic diameter of 5.0 to 5.5 cm.

Question 3

In addition to an annual screening echocardiogram of the ascending aorta, CT or MRI angiography of the entire aorta is recommended at what frequency for all first-degree relatives of individuals diagnosed with a thoracic aortic aneurysm/dissection (TAAD)?

A) 2 to 3 years
B) 4 to 5 years
C) 6 to 7 years
D) 8 to 10 years

Answer 3

B
Explanation: CT or MRI angiography should be performed every 4 to 5 years to evaluate the entire aorta in addition to annual echocardiogram screening of the ascending aorta in all first-degree relatives of affected individuals, making B the correct answer. This routine surveillance should begin at 6 to 7 years of age. All previously undiagnosed individuals who are found to have abnormalities by this screening should have their first-degree relatives screened as well.

Question 4

While discussing health maintenance with a patient whom you recently diagnosed with a thoracic aortic aneurysm (TAA), you advise them to avoid all the following except?

A) Daily walking exercise
B) Weight lifting
C) Isometric yoga
D) Contact sports

Question 5

While managing the care of your 18-year-old patient with a thoracic aneurysm with dissection (TAAD), your patient reveals to you that his grandfather suffered from the same condition but was not diagnosed until the age of 63 when he first developed symptoms. What is the phenomenon in which one individual in a family may present with symptoms at a young age, whereas another individual may present at an elderly age?

A) Pentrance
B) Genetic heterogeneity
C) Genocopy
D) Variable expressivity

Question 6

While examining a patient whom you suspect may have a thoracic aortic aneurysm (TAA) based on familial history, which of the following ocular abnormalities may you expect to find during your physical exam?

A) Livedo reticularis
B) Retinitis pigmentosa
C) Iris floccule
D) Pinguecula

Question 7

Which of the following is not part of the aortic dissection bundle questions included in the initial history for all patients complaining of chest pain?

A) Does the patient have Loeys-Dietz syndrome or a family history of Loeys-Dietz syndrome?
B) Does the patient's family history have a history of aortic dissection?
C) Does the patient have Marfan syndrome or a family history of Marfan syndrome?
D) Do physical findings suggest the patient may have undiagnosed Marfan syndrome?

Question 8

A 22-year-old male presents to you with a chief complaint of chest pain. During your history and physical you review the aortic dissection bundle questions to which you gather a single "yes" answer. What is the appropriate next step in determining your diagnosis?

A) Order an EKG
B) Order an emergent CT scan
C) Order a screening MRI within the next few days
D) Order a trans-thoracic echocardiogram

Question 9

Which of the following valvular conditions is seen in patients genetically predisposed to developing familial thoracic aortic aneurysms and dissections (TAAD)?

A) Bicuspid aortic valve
B) Mitral valve prolapse
C) Tricuspid aortic valve
D) Aortic regurgitation

Question 10

All genetic mutations resulting in familial thoracic aortic aneurysms and dissections (TAAD) appear to be inherited in an autosomal dominant manner. What is the risk that parents, siblings, and offspring of a proband will be affected?

A) 25%
B) 50%
C) 75%
D) 100%