Transcript Marfan*s syndrome: one name, several diseases

Marfan’s syndrome: one name,
several diseases
January 15th, 2016
14h -15h30
Which of the following proposition(s) about
Marfan syndrome is/are correct?
A) Its estimated prevalence is about 1:5000
B) Is a genetic disorder with autosomal recessive inheritance
C) Is most often due to mutations in the FBN1 gene
D) Joint hypermobility is a major diagnosis criteria
E) The average life expectancy for patients with the Marfan
syndrome is about 30 years
Which of the following proposition(s) about
Marfan syndrome is/are correct?
A) Its estimated prevalence is about 1:5000
B) Is a genetic disorder with autosomal recessive inheritance
C) Is most often due to mutations in the FBN1 gene
D) Joint hypermobility is a major diagnosis criteria
E) The average life expectancy for patients with the Marfan
syndrome is about 30 years
Explanations
B) Autosomal dominant inheritance
D) Joint hypermobility is only a minor diagnosis criteria
E) The average life expectancy for patients with the Marfan
syndrome is nearly the same as the general population in case of
regular follow-up and appropriate treatment.
Which of the following proposition(s) about Sinuses
of valsalvas diameters increase is/are correct?
A) Is nearly 1 mm/10 years in the general adult population
B) Is nearly 0.5mm/year in the general adult population
C) Is nearly 1mm/10 years in patients with a Marfan syndrome
D) Is nearly 0.5mm/year in patients with a Marfan syndrome
E) No increase in the general adult population
Which of the following proposition(s) about Sinuses
of valsalvas diameters increase is/are correct?
A) Is nearly 1 mm/10 years in the general adult population
B) Is nearly 0.5mm/year in the general adult population
C) Is nearly 1mm/10 years in patients with a Marfan syndrome
D) Is nearly 0.5mm/year in patients with a Marfan syndrome
E) No increase in the general adult population
Which of the following proposition(s) about
Marfan syndrome is/are correct?
A) Familial screening is done only in case of clinical features of Marfan
syndrome in the relatives
B) Familial screening relies only on TTE
C) In case of pregnancy with aortic diameter < 45 mm, it is
recommended to carefully follow-up aortic diameters evolution with
TTE or MRI during the gestation
D) Aortic aneurysms only concern the thoracic aorta
E) A systemic score ≥ 7, associated with familial history or aortic
aneurism constitute a diagnosis criteria of the Marfan syndrome
Which of the following proposition(s) about
Marfan syndrome is/are correct?
A) Familial screening is done only in case of clinical features of Marfan
syndrome in the relatives
B) Familial screening relies only on TTE
C) In case of pregnancy with aortic diameter < 45 mm, it is
recommended to carefully follow-up aortic diameters evolution with
TTE or MRI during the gestation
D) Aortic aneurisms only concern the thoracic aorta
E) A systemic score ≥ 7, associated with familial history or aortic
aneurism constitute a diagnosis criteria of the Marfan syndrome
Which of the following proposition(s) about
echocardiographic ascending aorta
measurements is/are correct?
A) Should be done during systole
B) Should be done during diastole
C) Should be done from leading-edge-to-leading edge
D) Should be done from inner-edge-to-inner edge
E) The maximal diameter is always obtained at the level of the
sinuses of Valsalvas
Which of the following proposition(s) about
echocardiographic ascending aorta
measurements is/are correct?
A) Should be done during systole
B) Should be done during diastole
C) Should be done from leading-edge-to-leading edge
D) Should be done from inner-edge-to-inner edge
E) The maximal diameter is always obtained at the level of the
sinuses of Valsalvas
Which of the following proposition(s) is/are correct?
A) Ectopia lentis syndrome = ectopia lentis and severe skeletal
features
B) Ectopia lentis syndrome is not responsible for cardio-vascular
disorders
C) Ehlers-Danlos syndrome type IV is often associated with vertebral
and carotid artery dissections
D) Ehlers-Danlos syndrome is caused by mutations in the COL3A1
gene
E) Shprintzer-Goldberg syndrome = craniosynostosis, characteristic
facial features, skeletal changes and neurologic abnormalities
Which of the following proposition(s) is/are correct?
A) Ectopia lentis syndrome = ectopia lentis and severe skeletal
features
B) Ectopia lentis syndrome is not responsible for cardio-vascular
disorders
C) Ehlers-Danlos syndrome type IV is often associated with
vertebral and carotid artery dissections
D) Ehlers-Danlos syndrome is caused by mutations in the COL3A1
gene
E) Shprintzer-Goldberg syndrome = craniosynostosis, characteristic
facial features, skeletal changes and neurologic abnormalities
Explanations
A) In ectopia lentis syndrome the skeletal features are moderate
or absent
Which of the following proposition(s) is/are correct?
A) Aneurysm osteoarthritis syndrome = aortic aneurysms, early
arthristis and neurological abnormalities
B) In some cases only genetic tests may differentiate between
Marfan syndrome and related disorders
C) The familial screening in Marfan syndrome follows the same
rules as for related disorders
D) Weill-Marchesani syndrome = an above-average height,
polydactyly, joint hypermobility and ophtalmological abnormalities
E) MASS syndrome: mitral valve prolapse, aortic enlargement, skin
and skeletal features
Which of the following proposition(s) is/are correct?
A) Aneurysm osteoarthritis syndrome = aortic aneurysms, early
arthristis and neurological abnormalities
B) In some cases only genetic tests may differentiate between
Marfan syndrome and related disorders
C) The familial screening in Marfan syndrome follows the same
rules as for related disorders
D) Weill-Marchesani syndrome = an above-average height,
polydactyly, joint hypermobility and ophtalmological abnormalities
E) MASS syndrome: mitral valve prolapse, aortic enlargement,
skin and skeletal features
Explanations
D) Weill-Marchesani syndrome = short stature, brachydactyly,
joint stiffness and ophtalmological abnormalities
Which of the following proposition(s) about
Losartan in Marfan syndrome is/are correct?
A) In adults, losartan does not decrease the speed of aortic root
dilation compared to placebo
B) In children, Losartan decreases the speed of aortic root dilation
compared to placebo
C) Losartan is more effective than a Beta-blocker therapy for
reducing the speed of aortic root dilation
D) Losartan is as effective as Betablocker therapy for reducing the
speed of aortic root dilation
E) Losartan is more effective than a Beta-blocker therapy for
reducing the speed of aortic root dilation in a mice model
Which of the following proposition(s) about
Losartan in Marfan syndrome is/are correct?
A) In adults, losartan does not decrease the speed of aortic root
dilation compared to placebo
B) In children, Losartan decreases the speed of aortic root dilation
compared to placebo
C) Losartan is more effective than a Beta-blocker therapy for
reducing the speed of aortic root dilation
D) Losartan is as effective as Betablocker therapy for reducing the
speed of aortic root dilation
E) Losartan is more effective than a Beta-blocker therapy for
reducing the speed of aortic root dilation in a mice model
Which of the following proposition(s) about
Marfan syndrome in children is/are correct?
A) It is almost impossible to diagnose Marfan syndrome in
children
B) There is no risk of aortic dissection before 18 years old
C) Beta-blocker therapy should not be prescribed
D) The aortic root Z score has a diagnosis and prognosis value
E) In the neonatal Marfan syndrome the life expectancy is very
short due to early aortic dissection
Which of the following proposition(s) about
Marfan syndrome in children is/are correct?
A) It is almost impossible to diagnose Marfan syndrome in
children
B) There is no risk of aortic dissection before 18 years old
C) Beta-blocker therapy should not be prescribed
D) The aortic root Z score has a diagnosis and prognosis value
E) In the neonatal Marfan syndrome the life expectancy is very
short due to early aortic dissection