Marfan’s syndrome: one name, several diseases January 15 th, h -15h30

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 Which of the following proposition(s) about Marfan syndrome is/are correct?

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. Explanations

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 Sinuses of valsalvas diameters increase 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 Marfan syndrome 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) about echocardiographic ascending aorta measurements 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 Which of the following proposition(s) is/are correct?

A)In ectopia lentis syndrome the skeletal features are moderate or absent Explanations

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 Which of the following proposition(s) is/are correct?

D) Weill-Marchesani syndrome = short stature, brachydactyly, joint stiffness and ophtalmological abnormalities Explanations

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 Losartan in Marfan syndrome 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 Which of the following proposition(s) about Marfan syndrome in children is/are correct?