Marfans Syndrome Signs and Symptoms

Posted by: Lhynnelli, RN

Is a connective tissue disorder.
The chemical make-up of the connective tissue isnt normal, as a result many of
these structures arent as stiff as they should be.
It is inherited and affect many parts of the body.
The syndrome is so mild that fe! symptoms e"ist.
The !alls of the ma#or arteries are !eakened. The aorta, the ma#or artery that
leaves the heart, often is affected. $hen this occurs, it %et bi%%er &dilates' !hich
can !eaken the inner aortic !all. (nder strenuous e"ertion, theaorta can tear.
)lood can leak throu%h these tears into the aortic !all, separatin% its layers * a
process called aortic dissection. +nother problem that may occur if the aortic !all
!eakens is that an aneurysm may form.
Etiology
,arfan syndrome is inherited as an autosomal dominant trait. (p to -./ of cases
have no family history and are so called 0sporadic1 cases.
Pathophysiology
2in%le mutant allele &from affected parent'.
Transmitted to the offsprin%.
+bnormal proteins in %enes
+bnormal membrane bound transport system
+bnormal structural proteins
+bnormal cells
+bnormal tissues
+bnormal or%an abnormal system
Signs and symptoms
Lon%, lanky frame
Lon% thin ribs
+rm span si%nificantly %reater than body hei%ht
Lon%, spidery fin%ers &arachnodactyly'
3unnel chest
2coliosis
4isual difficulties
3lat feet
Learnin% disability
Thin, narro! face
5ypotonia
6oint la"ity
5i%hly arached palate
7ro!ded teeth
8islocation of lens
,alformed cornea
Retinal detachment
Assessment
Physical e"amination
9chocardio%ram
9ye e"amination
:-ray
8oppler echo test
,RI
7T scan
)iopsy
7)7
)lood chemistry
(rine analysis
Nursing Diagnoses
Risk for in#ury
Risk for infection
;no!led%e deficit
+n"iety
+ctivity intolerance
8isturbance in self-esteem
3ear
3ati%ue
8isturbed body ima%e
Impaired physical mobility
5opelessness
Nursing Interventions
<. =bserve safety precautions all the time, keep side rails up all the time.
>. =bserve cleanliness and sterility all the time to avoid possible contamination and
spread of infection.
-. Provide correct information about the disease process, complications and possible
treatment.
?. 9ncoura%e patient to ackno!led%e and to e"press feelin%s to be relieved from
an"iety.
@. +scertain ability to stand and move about and de%ree of assistance necessary or
use of eAuipment.
B. 8iscover patients inner abilities and help to improve them to boost up their self-
esteem.
C. Provide rest periods, avoid unnecessary disturbance.
D. Improve other Aualities and help the patient accept their problems and help them
comfort them.
Complications
8ilated aortic root
8issectin% aortic aneurysm
+ortic rupture
)acterial endocarditis
5eart failure
,itral valve prolapsed
3reAuent palpations
5i%h blood
Pneumothora"
scoliosis