1. No category

Health Supervision for Children With Marfan Syndrome
Committee on Genetics
Pediatrics 1996;98;978
The online version of this article, along with updated information and services, is located on
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http://pediatrics.aappublications.org/content/98/5/978
PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication,
it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked
by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village,
Illinois, 60007. Copyright © 1996 by the American Academy of Pediatrics. All rights reserved. Print
ISSN: 0031-4005. Online ISSN: 1098-4275.
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Health
AMERICAN
ACADEMY
OF PEDIATRICS
Supervision
for Children
With
Committee
ABSTRACT.
This set of guidelines
is designed
to assist
the pediatrician
in caring
for children
with Marfan
syndrome
confirmed
by clinical
criteria.
Although
pediatricians
usually
first see children
with Marfan
syndrome
during
infancy,
occasionally
they will be called
on to
advise
the pregnant
woman
who has been
informed
of
the prenatal
diagnosis
of Marfan
syndrome.
Therefore,
these guidelines
offer advice
for this situation
as well.
Marfan
syndrome
is a heritable
disorder
of connective
tissue
characterized
by autosomal
dominant
inheritance
and variabffity
in clinical
expression.
The
frequency
of this disorder
is at least I in 10 000 in the
United
States.’
Approximately
one fourth
of cases
arise by new mutation;
the rest are inherited
from a
parent.
The gene
(FBN1 ) has been mapped
to chromosome
15q21.1;2 the defective
protein
is fibrillin,
an
important
protein
in the structure
of connective
tissue. Specific
mutations
that
result
in defective
or
decreased
fibrillin
are being
identified
in persons
with Marfan
syndrome.4
There
is considerable
heterogeneity
in the known
mutations.
The major
clinical
manifestations
involve
the skeletal,
ocular,
and
cardiovascular
systems
and
the
skin.1 Cardiovascular
abnormalities
are the most lifethreatening
features
of Marfan
syndrome,
may be
present
at birth,
manifest
during
ChildhOod
in about
25% of affected
children,6
and
are progressive
in
about
one third
of those.
The following
manifestations
occur
in Marfan
syndrome.
They
are divided
into major
and minor
criteria.7
Skeletal
on Genetics
trusio
acetabulae
diographs).
Minor
verity;
of any
degree
(ascertained
on
ra-
Criteria.
joint
crowding
chocephaly,
rognathia,
Pectus
excavatum
of moderate
sehypermobffity;
highly
arched
palate
with
of teeth;
and
facial
appearance
(dolimalar
hypoplasia,
enophthalmos,
retand down-slanting
palpebral
fissures).
System
Ocular
Major
Criterion.
Ectopia
lentis.
Minor Criteria. Abnormally
flat cornea
(as measured
by keratometry);
increased
axial
length
of
globe (as measured
by ultrasound);
and hypoplastic
iris or hypoplastic
ciliary
muscle,
causing
decreased
miosis.
Cardiovascular
System
Criterion.
Dilatation
of the ascending
aorta
or without
aortic regurgitation
and involving
at
Major
with
least the sinuses
cending
aorta.
of valsalva
or dissection
of the
Minor
Criteria.
Mitral
valve prolapse
with
out mitral
valve
regurgitation;
dilatation
of
pulmonary
artery
in the absence
of valvular
ripheral
pulmonic
stenosis
or any
other
cause,
occurring
at younger
than 40 years;
lion of the mitral
annulus
at younger
than
and dilatation
or dissection
of the descending
racic
or abdominal
aorta
at younger
than
as-
or withthe
main
or peobvious
calcifica40 years;
tho50 years.
System
Major Criteria.
The presence
of at least four of the
following
manifestations:
pectus
carinatum;
pectus
excavatum
requiring
surgery;
reduced
upper-tolower
segment
ratio
or arm
span-to-height
ratio
greater
than 1.05; wrist and thumb
signs;
scoliosis
of
more than 20#{176}
or spondylolisthesis;
sion at the elbows
(<1700);
medial
the medial
malleolus
causing
pes
reduced
displacement
planus;
and
PEDIATRICS
System
Pulmonary
Major
Criterion.
Minor
apical
Criteria.
blebs
None.
Spontaneous
(ascertained
by
pneumothorax
chest
and
radiography).
extenof
pro-
The recommendations
in this statement
do not indicate
an exclusive course
of treatment
for children
with genetics
disorders.
They are meant
to supplement
anticipatory
guidelines
available
for treating
the normal child
provided
in the American
Academy of Pediatrics
publication
Guidelines
for
Health Supervision.
They are intended
to assist the pediatrician
in helping
children with genetic conditions
to participate fully in life. Diagnosis
and
treatment
of genetic disorders are changing
rapidly.
Therefore,
pediatriclans are encouraged
to view
these guidelines
in light of evolving scientific
information.
Clinical
geneticists
may be a valuable
resource for the pediatrician seeking
additional
information
or consultation.
PEDIATRK3
(ISSN 0031 4005). Copyright
C 1996 by the American
Acad.
emy of Pediatrics.
978
Syndrome
Marfan
Skin
and
Integument
Major
Criterion.
None.
Minor Criteria. Striae
atrophicae
(stretch
marks)
not associated
with marked
weight
changes,
pregnancy,
or repetitive
stress
or recurrent
or incisional
hernias.
Dura
Major Criterion.
Lumbosacral
dural ectasia
computed
tomography
or magnetic
resonance
ing.
Minor
Criterion.
None.
Vol. Downloaded
98 No. 5 November
1996
from pediatrics.aappublications.org
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seen on
imag-
Family
and
Genetic
include
History
Major
Criteria.
Having
a parent,
child
or sibling
who meets
these
diagnostic
criteria
independently;
presence
of a mutation
in FBN1
known
to cause
Marfan
syndrome;
and
presence
of a haplotype
around
FBNJ,
inherited
by descent,
known
to be
associated
with
syndrome
in the
family.
Minor
Criterion.
None.
Requirements
index
systems
1. Review
the child’s
the skeletal
the infant’s
Review
and
pectus
scoliosis.
Review
genetic
history
is not contribuin at least two different
organ
organ
system;
and
If a mutation
known
to cause Marfan
syndrome
other family
members
is detected,
one major
terion
in an organ
system
and involvement
second
organ
system.
.
ROUTINE
in
ciiin a
EXAMINATIONS
Several
areas require
ongoing
assessment
throughout childhood
and should
be reviewed
periodically
at developmentally
appropriate
ages (Table).
These
TABLE.
Marfan
Syndrome:
C uidelines
fo r Health
(Figure).
system.
joints
the
for laxity
evaluate
cardiovascular
system;
and
the
sternum
spine
cardiac
for
mani-
festations
can occur any time in childhood.
.
Measure
the child’s blood pressure.
.
Obtain
an echocardiogram.
.
If abnormal
cardiac
findings
are present,
refer
the infant
to a pediatric
cardiologist.
.
Discuss
bacterial
endocarditis
prophylaxis
if
mitral
valve
prolapse
is presents;
an enlarged
aortic root needs
long-term
follow-up
by a pediatric
cardiologist
and discussion
of prognosis
and possible
surgical
intervention.93
Timely
medical
or surgical
intervention
may
significantly alter the prognosis
for longevity.
The use
of f3 blockade
has been
shown
to slow
aortic
dilatation
and decrease
risk of dissection.
Initiation of therapy
with f3-blocking
agents
should
be made in consultation
with a pediatric
cardiologist.’4
Syndrome
of a third
growth
deformities;
for
3.
involvement
Assess
.
Marfan
of Marfan
following:
2.
case:
If the family
and
tory, major criteria
.
diagnosed
of the Diagnosis
the
For
unequivocally
the
Supervision*
Aget
Infancy,
Early
I mo-I
Newborn
Examination
Cardiac
Echocardiogram
Ocular
Skeletal
1-6
y
mo
1-5
6-12
0
0
mo
1-3
0
#{149}
Spine
Joints
Pectus
Childhood,
Late Childhood,
Adolescence
5-13
Adulthood,
y
y
3-5
5-10
y
y
10-15
y
y
to Early
13-21
15-21
0
0
0
0
0
#{149}
#{149}
#{149}
#{149}
#{149}
0
0
0
0
0
0
0
0
.
.
.
.
.
.
.
.
.
.
.
S
#{149}
S
#{149}
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
SI
SI
S
S
S
S
y
y
Measurements
Length/height
Upper/lower
segments
Urine/blood
amino acids
Bone age
Blood pressure
Anticipatory
Sfl
guidance
Review
diagnosis
Examine
family
Support
group
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
S
.1*
S
5ff
5ff
S
S
S
S
S#
Review
genetics
Psychosocial
Lifestyle
counsel
S
S
S
S
S
S
S
51111
5
5
511
Reproduction
*
Assure
compliance
with
the American
Academy
of Pediatrics
Recommendations
indicates
to be performed;
0, objective,
by standard
testing;
:: To be performed
at newborn
period
or before I year of age and
§ Review
with
relationship
to puberty.
II Perform once at initial evaluation.
I Disparity
between
height age and bone age should be reviewed
t
S
and
yearly
with
consideration
except
U
of nonstrenuous
and competitive
need
for visual or physical
Begin
§5 Reinforce
liii Review
coping
11
education
use
symptoms
with
Discuss
of parents
chronic
genetic
about
of protective
value
eyewear;
of potential
children
younger
by
than
Pediatric
Health
Care.
history.
in the intervals
# Need
only be done
once
for each family
**
Anxiety
at first visit
may have prevented
tt Review
with child as well as parents.
for
for Preventive
S. subjective
at older
of hormonal
than 3 years.
therapy.
10 years.
full understanding.
address
catastrophic
events:
aortic
dissection,
sport and suggest
therapy.
pneumothorax,
alternatives.
and retinal
detachment.
Discuss
concerns
about
condition.
risks
and
risks
of pregnancy.
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22, 2014 OF PEDIATRICS
ACADEMY
979
B
A
I
2
4
6
8
10
12
Figure.
in Marfan
syndrome.
with
hormones.
Growth
treatment
receive
construction
of these preliminary
±1. The curved
disorders
of
NY: Churchill
4.
lines
show
fibrillin.
14
16
20-24
>24
(yr)
Ag.
Plots
Both
curves.
of height
and
cross-sectional
The points
show
the 5th, 50th, and 95th percentiles
In: Rimoin
Livingstone;
DL, Connor
weight
and
JM, Pyeritz
versus
the mean
VISIT
PRENATAL
may already
have been provided
for the family
by a
clinical
geneticist
and/or
obstetrician.
Because
of a
previous
relationship
with the family,
however,
the
pediatrician
may be called
on to review
this informaand
most
part,
family
lecular
can
to
assist
diagnosis
available.
based
in
in which
studies
be identified
the
decision-making
process.
in Marfan
syndrome
is not yet
Rarely, an affected
fetus has been
on ultrasound
findings.15
For the
prenatal
diagnosis
will
there is an affected
have demonstrated
by
DNA
studies
be undertaken
parent
and
a mutation
in fetal
cells
in a
mothat
or in
which there are multiple
affected
members
and linkage studies
are informative.
If the pregnant
mother
is
affected,
she should
be under
the care of a physician
980
HEALTH
men
grouped
girls
200
in 1-year
population.
Rimoin’s
(A) and
approximately
(From
Principles
women
intervals,
Pyeritz
and
and
white
(B) who
patients
and
the
did not
were
bars
used
show
in
SDs
RE. Marfan
syndrome
and other
ofMedical
Genetics.
New York,
Practices
1996:1034.)
Pediatricians
may be called
on to counsel
a family
in which
a fetus
has a genetic
disorder.
In some
settings,
the pediatrician
may
be the primary
resource
for counseling.
At other
times,
counseling
Prenatal
routinely
diagnosed
and
and
of
age for persons
Emery
amblyopia.
tion
data
of the unaffected
RE, eds.
Evaluate
the child’s vision using developmentally
appropriate
subjective
and objective
criteria.
.
Evaluation
by a pediatric
ophthalmologist
should
be performed,
with
follow-up
on a
regular
basis
to detect
myopia
and
prevent
THE
age in boys
longitudinal
who
is aware
pregnancy
of the complexities
in Marfan
of management
of
syndrome.
When appropriate,
referral
of the family
to a chinical geneticist
should
be considered
for a more extended
discussion
of recurrence
rates, reproductive
options,
and evaluation
of risks to other family
members.
Considerable
variability
exists
in phenotype
within
and between
families.
HEALTH
SUPERVISION
MONTH:
FROM
BIRTH
TO
1
NEWBORNS
Examination
The
following
systems
need
to be evaluated:
Skeletal
.
Take measurements
and
.
.
lower
segments,
to obtain total body length, upper
arm span, hand and finger lengths,
and leg lengths.
Evaluate the newborn for scoliosis.
Evaluate the joints for laxity and contractures.
Ocular
.
Check the newborn
for an abnormal
red reflex or for
iridodonesis
(uneven
shimmering
motion
of the iris,
seen best with lateral ifiumination
as the pupil dilates
and constricts).
Lens dislocation
usually follows years of
SUPERVISION
FOR from
CHILDREN
WITH
MARFAN
SYNDROME
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pediatrics.aappublications.org
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August 22, 2014
subluxation.
and
Evaluation
requires
slit lamp
by a pediatric
ophthalmologist.
evaluation
5. Assess
examination
Cardiovascular
.
Check
the newborn
indicates
lapse,
aortic
valve
or mitral
ifestations,
for the presence
mitral
insufficiency.
although
of a murmur,
insufficiency,
valve
unusual
in
.
Note cardiac
rhythm.
Obtain
an echocardiogram.
valve
pro-
man-
been
cardiologist
should
be
considered.
cist should
be considered
and treatment
plans.
Anticipatory
Referral
eration
Anticipatory
1 . Discuss
because
of an affected
is made,
review
is under
parent
but
parents
(see
3. Review
.
.
consid-
the
findings
.
.
support
groups
and
lit-
available
symptoms
syndrome
is transmitted
the recurrence
risks
for
cally
to treat
the infant
family
6.
and
members
at
the patient’s
Assess
the
illness.
and options
(eg,
golf,
for
education.
the child
contact
nonstrenuous
walking,
and
the im-
sports,
and
activities
fishing);
and
even
in the
of retinal
detachment.
for services
for the visually
if indicated.
Review
of pneumothorax
and physithe
and
the
need
for
need
for
the child’s
tion to pubertal
1 MONTH
TO 1
1 . Discuss
obtain
upper
if a diagnosis
measurements
and
is not yet
5 TO 13 YEARS:
growth,
particularly
height,
in rela-
status.
symptoms
and
uncommon
and
FROM
CHILDHOOD
Guidance
Anticipatory
growth.
length
SUPERVISION
of aortic
dissection,
syncope.
Emphasize
that
in childhood,
particularly
mildly
to moderately
dilated.
2. Consider
using
radiography
including
chest
aortic dissection
is
if the aorta is only
to determine
bone
age,
depending
some
Guidance
3.
the clinical
manifestations.
whether
support
groups
and whether
derstood.
the
pertinent
genetics
anxiety
Discuss
may
autosomal
If a parent
Marfan
.
to chronic
lifestyle
exercise,
sports.
alternative
evaluation.
.
INFANCY
infant’s
segment
Anticipatory
this
discuss
strenuous
prompt
1 Review
encourage
certain.
.
of
Discuss
pain
lower
.
detach-
Examination
Examination
because
earlier.
retinal
children
to de-emphasize
therapy.
symptoms
HEALTh
normally.
FROM
YEAR:
3. Review
related
for future
of age,
LATE
diagnostic
studies.
of the infant,
and
SUPERVISION
HEALTH
1. Review
2. Review
concerns
handicapped
physical
for
children
future
options
for prenatal
diagnosis.
Recommend
evaluation
for other
risk; consider
molecular
4. Stress the positive
features
.
and
ap-
syndrome.
Review
1. Review
developmentally
criteria.
of myopia
risks
need
Refer the child
in an autorisk to the
somal
dominant
fashion,
there is a 50%
offspring
of the affected
individual.
If the parent
is affected,
screen other siblings
parents
vision using
and objective
absence
of cardiac
disease,
the risk of developing
aortic dilatation
is high.
4. Discuss
the use of protective
eyewear,
and review
the
5.
Marfan
I TO 5 YEARS:
diagnosis.
competitive
Emphasize
sports
“Resources”).
Because
psychosocial
recurrence
portance
the genetics.
Marfan
.
about
the
Guidance
Parents
.
explain that a diagnosis
cannot be confirmed
or excluded,
and discuss
the importance
of
longitudinal
follow-up.
Consider
performing
molecular diagnostic
studies.
erature
FROM
symptoms
3. At 3 to 5 years
are equivocal,
2. Inform
Investigate
for prenatal
syndrome
with
CHILDHOOD
the child’s
subjective
2. Review
of Marfan
coping
a geneti-
Guidance
the prognosis.
If a diagnosis
are
condition.
ment.
of diagnosis
1. Review
the clinical
manifestations.
.
If a diagnosis
of Marfan syndrome
.
to
SUPERVISION
1 . Evaluate
propriate
to a pediatric
for confirmation
siblings
a chronic
Examination
.
referral
and
with
EARLY
Cardiovascular
the newborn,
have
Patient
parents
of a child
HEALTh
which
reported.
.
how
stress
may
Review
literature
of the
have
involve
recurrence
has
syndrome
prevented
dominant
is affected,
syndrome
have
and
with the family,
full understanding
inheritance.
screen
other
been
been contacted
read and un-
older
family
molecular
genetic
risks
for future
lions for prenatal
diagnosis.
4. Stress the infant’s
positive
features,
ents to treat the infant
normally.
siblings
members
for
children
and
encourage
strictions
par-
fears
of chronic
illness.
to discuss the nature of the disease with the child,
and answer questions
at an age-appropriate
level.
5. Discuss
the school gym program,
extracurricular
sports,
and, if appropriate,
after-school
jobs.
6. Review symptoms
of retinal detachment.
Because of the
high frequency
of visual problems,
regular
care by a
pediatric
ophthalmologist
with annual examinations
is
suggested.
7.
and op-
and
4. Begin
at risk;
testing.
Discuss
on the child’s height and pubertal
status. In
cases,
discuss
the use of hormones
to limit height.
psychosocial
concerns,
especially
physical
re-
Review
symptoms
8. When appropriate,
birth control.
9. Discuss
tivi
and
of pneumothorax.
discuss
encourage
issues
participation
of reproduction
in
peer
and
group
ac-
ties.
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ACADEMY
981
HEALTH
OLDER:
SUPERVISION
ADOLESCENCE
FROM
13 TO 21 YEARS
TO EARLY ADULTHOOD
OR
Jane Lin-Fu, MD
Health Resources
Administration
Examination
I . Review
height
US Department
the adolescent’s
growth
and predicted
in relation
to pubertal
development.
Consider
.
and
radiographic
use
of
determination
to limit
height.
hormones
of
final
Human
Paul
bone
age
an ophthalmologic
examination.
an echocardiogram.
The pediatrician
should
consult
a pediatric
cardiologist
regarding
the use of
13-adrenergic
blocking
agents
to slow the progression
of
aortic
dilatation.
Anticipatory
the
.
of the
with
disease
of reproduction
The
facts
risk
the patient,
to the impact
and
of autosomal
of aortic
delivery’6”7
.
also
birth
nancy
3. Review
inheritance;
Preimplantation
These
do not
to the health
diagnosis
obviate
the risk
of the affected
can
of preg-
woman.
Adoption
lifestyle
concerns,
alternative.
as limitations
tion,
and
sexual,
of some
genetic
and
physical
activities,
11050,
of literature
382 Main
(516)
883-8712
are the
St, Port
or
(800)
8-MARFAN;
and the March of Dimes,
Marfan
Syndrome,
Public
Health
Educational
Information
Sheet,
Community
Services
Department,
1275
Mamoroneck
Aye, White
Plains,
NY 10605,
(914)
428 -7100.
COMMFI-rEE
ON
GENETICS,
1995
LIAISON
and
Birth
Defects
MD
I
H. Marfan’s
Med.
RE, Maslen
(FBN)
syndrome
and other
disorders
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Pediatrics 1996;98;978
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