말판 증후군/ 마판 증후군 / 마르팡 증후군 marfan syndrome

https://www.cirquedusoleil.com/luzia

LUZIA: Touring Show. See tickets and deals | Cirque du Soleil

 

Luzia

서커스 보러다녀왔다. 동물들이 나오는건줄 알았는데..동물이 아니고 사람들이 묘기를 부리는 서커스. 그래도 너무 재미있더라. 

거기서 막바지에 나온 엄청 ? 유연한 남자. 너무 신기한데에 반해 건강이 걱정되더라. 

marfan syndrome 

MFS

 

Intro 

-One of the most common inherited disorders of connective tissue

-predominantly autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals

 

 

 

Genetics 

-MFS is almost exclusively inherited in an autosomal dominant manner, although rare case reports have described recessive fibrillin 1 gene (FBN1) mutations 

-Most patients with the typical Marfan phenotype harbor mutations involving the gene (FBN1) encoding the connective tissue protein fibrillin-1 

 

Clinical manifestations of MFS 

-Cardiovascular and musculoskeletal abnormalities, and involvement of the lung, skin and central nervous system 

 

1)Aortic disease

-Aneurysmal dilatation, aortic regurgitation and dissection 

-Dilatation of the aorta is found in approximately 50 percent of young children with MFS (characterized by abnormal Z-score) and progresses with time. Approximately 60 to 80 percent of adult patients with MFS have dilatation of the aortic root (with normal range adjusted for patient body surface area and age) by echocardiography 

 

2)Cardiac disease 

-Mitral valve prolapse (MVP) is frequently identified in patients with MFS (eg, 40 and 54 percent in two series of MFS patients

 

3)Skeletal findings

- have excess linear growth of the long bones and joint laxity

-Arachnodactyly with positive thumb and wrist signs

-Pectus deformity (Pectus carinatum > pectus excavatum or chest asymmetry)

-Hindfoot valgus 

-Abnormal US/LS and arm span/height 

(upper segment to lower segment) 

  : the upper segment to lower segment (US/LS) ratio is decreased and the arm span to height ratio is increased.

-Scoliosis and kyphosis 

-Protrusio acetabuli 

-Facial featrues 

  : dolichocephaly (reduced cephalic index or head width/length ratio), enophthalmos, downslanting palpebral fissures, malar hypoplasia, and retrognathia

 

4)Ocular abnormalities 

-Annual ophthalmologic evaluation is recommended for all patients with MFS

-Ectopia lentis occurs in 50 to 80 percent with MFS 

  : the familial or acquired displacement of the natural crystalline lens from the patellar fossa

5)Dural ectasia 

 

6)Pulmonary disease 

-Some patients with MFS develop emphysematous changes with lung bullae predominantly in the upper lobes, which can predispose to spontaneous pneumothorax 

 

7)Skin striae 

 

8)Other

-Recurrent or incisional herniae, joint hypermobility, and high arched palate

 

Diagnosis 

-MFS is diagnosed using 2010 revised Ghent Criteria 

https://marfan.org/dx/score/

Calculation of Systemic Score - Marfan Foundation

 

Differential diagnosis 

-FBN1 phenotypes 

-TGFBR1 or TGFBR2 mutation: Loeys-Dietz syndrome 

-Ectopia lentis syndrome 

-MASS phenotype 

-Mitral vlave prolapse syndrome 

-Congenital contractural arachnodactyly 

-Homocystinuria 

-Certain Ehlers Danlos types 

-Stickler syndrome 

 

Management 

The prognosis of patients with MFS has improved with

-the use of medical therapy (beta blockers and angiotensin II .receptor blockers)

-routine and noninvasive monitoring of aortic size

-elective surgical repair of the aorta

-restriction of vigorous physical exercise

 

Beta blocker 

-generally start with atenolol 0.5 mg/kg/day and increase the dose based upon heart rate response, with the goal of maintaining heart rate after submaximal exercise (eg, running up and down two flights of stairs) below 100 beats/minute in adults and below 110 beats/minute in children

-Beta blockers decrease myocardial contractility, pulse pressure, and heart rate and may afford some protection from aortic root enlargement based on these hemodynamic effects. 

 

Renin-angiotensin system antagonist 

-an ARB is an alternative or companion treatment to a beta blocker for patients with MFS with aortic aneurysm or a risk factor for development of aortic aneurysm.

 

Drugs to avoid

-CCB