Aorta Quiz - Council on Cardiovascular Genomics - Insight Volume 11

Which of the following is true regarding the genetic diseases of the aorta?
The abdominal aorta is most frequently involved
Familial forms affect at least 2 individuals in the same family
Endovascular procedures are favored in hereditary thoracic aortic disease (HTAD)
Screening with TTE is not usually recommended for the first-degree relatives (FDR) of an individual with thoracic aortic disease with risk factors for HTAD when there is no relevant family history and no evidence of a disease-causing genetic variant.
Genetic testing is indicated only in young individuals with TAD ( ≤ 60 years):
In those who have additional risk features
Exclusively in those without hypertension (HTN)
False, it can be indicated in older individuals, depending on the clinical presentation
Coarctation of the aorta (CoA) may be associated with bicuspid aortic valve (BAV), intracerebral aneurysm and ascending aortic aneurysm. It is also observed in 7-18% of patients with Turner syndrome. Which of the following is true regarding its diagnosis and management:
A mean gradient > 20mmHg across the CoA on Doppler ultrasound should prompt catheterization
Intervention is not recommended in individuals with significant CoA without HTN
Hypertension resolves after surgery
In native CoA surgery is the first-choice treatment
Which of the following correlation is false in syndromic conditions and HTAD:
ARBs are recommended in females with Marfan syndrome (MFS) during pregnancy
Celiprolol, a selective B1 receptor antagonist, should be considered in patients with vascular Ehlers-Danlos syndrome
Aortic root surgery should be considered in women with Loeys-Dietz syndrome with a TGFBR2 variant when the aortic root is ≥ 40mm.
Prophylactic aortic root surgery should be considered in ACTA2-related HTAD with an aortic diameter ≥ 45mm.
Surveillance with TTE is advisable in the following situations, except:
Yearly in MFS, provided the max. aortic diameter is < 45mm
Yearly in ACTA2-related HTAD, provided the max. aortic diameter is < 45mm
Yearly in Loeys-Dietz syndrome, provided the max. aortic diameter is < 45mm
Every 2-3 years in BAV with a diameter of >40mm, provided stability has been observed
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