SEPTEMBER,

Downloaded from www.ajronline.org by 223.255.231.151 on 10/02/16 from IP address 223.255.231.151. Copyright ARRS. For personal use only; all rights reserved

NEUROFIBROMATOSIS
HEART
By HARVEY

L. NEIMAN,
AARON

M.

AND
DISEASE*

M.D.,

ERNESTO

STERN,

M.l).,f
ANN

HE

cutaneous,

nervous

system

rofibromatosis

frequently
stenosis

ally

in

secondary

described
in
neurofibromatosis,
been

adults.8

seen

at

the

Center
tion,

of

6 also

had

purpose
6 cases

of
and

increased

incidence

in

I.

(HG)

This

caf#{233}
au lait

spots

and

fibromatosis

was

systolic

mild

at

cyanosis.

this

condi-

congenital

is

heart

P/.

Case

11

old

heard

to have

the

left

a Grade

sternal

A cardiac

3/6

border

monary

catheterization

re-

CASE

taneous

retardation
was

to have

radiating

tion

to the

revealed

Hg

systolic

From

gradient)
at

monary

Center,

left

the
Ann

Cardiac

valve stenosis
and

origin

of

(io

mm.

Department
Arbor,

with

of Radiology

Hg

right

left

I)epartment

tremities

pul-

mata
she

of

(RC)

This

was

a history

12

of easy

lait spots,
insufficiency,

mental
a

systolic

murmur

subsequently

using

6 year

had

cardiopul-

old

boy

with

over the trunk

a left forehead

was evaluated
fatigability
heard

Cardiac
septal
defect

CASE

gradients).
and

and

valvulotomy

easy

caf#{233} ati

pulnionic

and

mother

She

because

and
over

of

a Grade

3/6

entire

pre-

the

catheterization
which
was

mul-

and exsubcu-

revaled
subsequently

an

repaired.

catheteriza(26 mm.

peripheral

the

is the

pulmonic
area.
Cardiac
demonstrated
pulmonic
A transventricular
pulmonary
carried
out. Six years later she

symptoms

murmur

cordium.
atrial

of the

axilla.

pulmonic

the
arteries

stenosis

male

scalp, mental
veloph aryn geal in su flicien
c y
a Grade
4/6 systolic
murmur

and

noted

old

retardation

2).

a harsh

sub(Fig.

1943

neurofibroma

systolic
month

mental

with

caf#{233}
au lait spots
and probably

tremities

defect.

This 23
xanthoma

of the left
collaterals

the
in

v.

progressive

(RLR)
caf#{233}
au lait spots,

catheteriof the

bypass.

for closure

of a residual

in

and

tiple

II.

in

pulmonary

vealed
a high ventricular
septal
defect.
At the
age of 5 years he underwent
repair of the defect.
However,
3 years
later
he was re-operated
on

CASE

and

border

roentgenogram
Cardiac
coarctation

multiple
caf#{233}au
velopharyngeal

pulse.
murmur

sternal

(Fig.

seen

pulses

ejection

patient

III

first

recurrent

This

Case

when

femoral

the origin
prominent

has

n.
and

the radial

Chest

(LLR)

and

phenotype

had

The

right

the

was 360/90

than

the

to

valvular
stenosis.
valvulotomy
was
male
with
of neuro-

Hg.

with

OF

9 month
old
a family
history

arm

rib notching.
a high
grade

distal

CASE

best

CASES

Case

A and B). She also

a Turner
phenotype.

Turner

dis-

on

of

sister

systolic

at

artery

fatigability,
retardation

to
the

spots

the

interspace.

just

years

heart

this
report
to emphasize

asymptomat-

was

harsh

catheterization

noted

murmur

heard

secolid

of

old

lait

mm.

neurofibromatosis.

with
REPORT

CASE

(1951-

of congenital

patients

best

the

Medical

years

with

The
these

describe
ease

78 children

whom

disease.

was

and

year

and weaker

2/6

1,

20

84

90

A Grade

clavian

of neurofibromatosis
past

leg

delayed

aorta

jn
re-

MI).,

caf#{233}
au

in the right

demonstrated
zation
revealed

been

anomalies
have
only

of Michigan

the

disclosed

has

Cardiac
however,

University

during

97)

Hypertension

chest

pressure

right

This

multiple
and

were

is renal

(PjR)

III.

with

Blood

hypertension,

described.2
of all cases

A review

CASE

has

F. HOLT,
M.D.t

MICHIGAN

ic girl

abnorThe
most

pheochromocytorna

M.D.,
JOHN
L. PERRY,

abdomen

attention

abnormality

CONGENITAL

MENA,
BURTON

central

recognized

secondary

children.

to

cently

widely

cardiovascular
also
occur.

and

ARBOR,

of neu-

Less

the
may

described

artery
especi

been

years.4#{176}

given
to
which

and

manifestations

have

for many
been
malities

osseous

and

1974

Pediatrics

Michigan.

146

and

was
was

VI.

(BC)

This

lait

spots

over

and

multiple

first

seen

noted

Communicable

to

at

have

Diseases,f

patient
with
the abdomen
cutaneous
the age
sinus
University

multiple
and exneurofibro-

of

years,

bradycardia
of Michigan

when

with
Medical

VOL.

Downloaded from www.ajronline.org by 223.255.231.151 on 10/02/16 from IP address 223.255.231.151. Copyright ARRS. For personal use only; all rights reserved

second

Neurofibromatosis

No.

122,

degree

years

she

block.

Cardiac

block.

A-V

was

found

to

At

except

the

have

catheterization

abnormality

and
age

of

complete
cardiac

Heart

Disease

47

17

heart

demonstrated

generalized

Congenital

no
enlarge-

men t.
DISCUSSION

Neurofibromatosis

is an

certainly
not
a mesodermal

rare

uncommon

but

disease,
probably
due
and
ectodermal
dysplasia

to

2. Photograph
neurofibromata

hG.

that

can

affect

protean

the

ted.4

and

hpertension

tion

of

io

mates

of

Carol

et al.,3

to
and

strates

prominent

diography
than

to
to

be due

aorta

to collateral

neurofibromas

Cinecardiogram

mammary

Chest
roentgenogram
rib notching
shown
of

with

arteries.

circulation

intercostal

demonstrates

(arrow)

by

markedly

demoncinecar-

coarc

rather

(B)

nerves.
tation

enlarged

of

the

internal

with

neurocutaneous
with
some
cent

esti-

incidence.8

et al.7

of coarctation

et al.2

have

each

of the

aorta
evi-

espe-

affected

with
of

aortic
found

sible

recently

The

valvular

member

an

neuroassocianeuro-

presented

IflOfliC

(A)

with
The

that
congenital
heart
disease,
pulmonic
valvular
stenosis,
of the vascular
manifestations

rofibromatosis.

III.

in 1965
stenosis

neurofibromatosis.

dence
cially
part

Case

frequently

artery

per

20

The

been

only

children

Glenn

a case

Kaufman

ofrenal

or other
of the
is well
known,

described

FIG.

less

it was

was
described.9
pheochromocytorna

fibromatosis
syndromes

body.

Cardiovascular

are

in

iv).

generally

and

iv.
(Case

the

of

have

relationship

fibrornatosis

LLR

system

however,

that

and

III,

on

manifestations

observed,

ii

tnv

documen

system

ii,

manifestations

well

and

of Cases
visible

are

found

stenosis

this
one

condition.

fibromatosis
Michigan

seen
Medical

Inll-

additional

supravalvular

et al.,4
however,
patient
with posdisease;
presumably
all

at

of

9 families

heart

atrial
septal
defect.
\Ve have
reviewed

An
had

stenosis.
Crowe
in 223
cases
only

congenital

,#{231}
cases

among

family

may
be
of lieu-

the
the

Center

cases

of neuro-

University
in

the

of
years

Neiman

148

Downloaded from www.ajronline.org by 223.255.231.151 on 10/02/16 from IP address 223.255.231.151. Copyright ARRS. For personal use only; all rights reserved

SUMMARY

Sex

HG

RLR

PJR

Age

at Time

of

Ventricular

septal

mo.

Pulmonic

valvular

2!

4 yr.

6 mo.

Coarctation

yr.

12

4 mo.

Pulmonic

Disease

Associated

Abnormalities

defect

Mental
retardation
Velopharyngeal
insufficiency

stenosis

of upper

aortic

thoracic

aorta

valve

valvular

5974

CASES

Heart

9 mo.

Bicuspid

LLR

OF

Congenital

Evaluation

SEPTEMBER,

TABLE

Name

al.

et

stenosis

Mental

retardation

Turner

phenotype

Mental

retardation

Iurner phenotype

RC

BC

with

and

this

congenital

78

disease.

has
cent

of

the

been
found
to be
of live births.23
a definite

congenital

tosis

heart

(7.7

per

however,
are

from

the

diagnosis
made

0.32

series,
and

neurofibroma-

incidence,
3 of our
cases

since

same

until

the

family
second

et

tionally,

Rosenquist

and
or

since

the

is often

not

third

there
is an increased
valvular
stenosis
in view
of
the

but

who

association

had

It

is

a normal

drome.2

appearing

particular

of

pigmentary

orders
and
pulmonic
also been
reported
lentigines

of

syndrome

that

cutaneous

valvular
to occur
the

in

a
a

of
with

the
lower
thoracic
neurofibromatosis.

is only

the

in that

our

third

demon-

These
cases
from
a roentgeno-

case,
to the

are

both coarctation
can
produce
rib
however,
collateral
coarctation

are

the

cause
for the notching.
Congenital
block
has
not
been
previously
rein neurofibromatosis.
increased

incidence

ofthe

anomalies

dermal
involved

of

congenital

heart

in patients
with neumay
be based
on the fact
embryologically
has a meso-

rofibromatosis
that the heart

origin
and
therefore
in this dysplasia.

is likely

to

be

SUMMARY

0178

in children
disease.

stenosis
has
in the multiple

valvular

syn-

upper

neurofibromatosis
et al.7 described

case

notching.#{176} In
vessels
secondary

the

the

Glenn

graphic
standpoint
and
neurofibromatosis

proven
heart
ported

described
of

this association.
interesting

particularly

dis-

Watson

our
of

A review
the

and

boy.3

of coarctation
in a patient

stration

pulmonic

interest

and

case
aorta

in 1940

coarctation

aorta
old

The

decade.
incidence
and
neurocases
of

of our 6 cases.
Addiet al.16 described
a
child with neurofibromatosis
who developed
stenosis
of the pulmonary
outflow
tract,
valve.

al.2 and

of

exact

of neurofibromatosis

Particularly,
of pulmonic
fibromatosis
Kaufman

therefore,
incidence

The

is uncertain

thoracic
7 year

heart
disease
to 0.64 per

increased
disease

were

sympto-

report
of

Therefore,

from
Our

cent).

A previous
association

age
from
the patient

cardiac

).
of congenital

(Table

incidence

indicates

in

this

6 cases

Three

ranging
Generally,

because

The

were

block

with

there

heart

defect

heart

children

group

males
and
3 females,
9 months
to I 2 years.
presented

septal

Complete

found

In

matology

Atrial

mo.

yr.

1951-1971

diagnosis.

yr.

tion
fect,

genital

cases

disclosed

This

included

stenosis

of the

and

thoracic

ventricular

heart

of neurofibromatosis
6 with
2

i case

aorta,
septal

block.

congenital
cases

each

atrial
defect

of

heart
pulmonic

of coarcta-

septal
and

decon-

VoL.

This

Downloaded from www.ajronline.org by 223.255.231.151 on 10/02/16 from IP address 223.255.231.151. Copyright ARRS. For personal use only; all rights reserved

sizes

the

heart

Neurofibromatosis

No.

122,

material,
increased

disease

therefore,
incidence

in

patients

and

Congenital

Disease
Surg.,

celiac
axis.
561-569.

further
emphaof congenital
with

Heart

Gynec.

neurocutaneous
1953,

Hospital
Medical

9.

Center

94,

1952,

and

LITTMAN,

its relationship
to
Am. 7. Med.,

syndromes.

14,318-327.

M.,

HALPERN,
.

48104

M. M.,

GLUSHEIN,

matosis.
John F. Holt, M.D.
C. S. Mott Childrens
University
of Michigan
Ann Arbor, Michigan

& Obst.,

A. S., MANSUY,
D. S. Pheochromocytoma:

8.

neurofibro-

49

lesions
tosis.

and

G.

CURRARINO,

causing
hypertension
New England
7. Med.,

Vascular

in neurofibroma1965,

273,

248-

252.
10.

REFERENCES
I.

ALLAN,

tosis

F. N., and
ofrenal

E. R. Neurofibroma-

DAVIES,

artery.

Brit.

7. Radio!.,

1970,

43,

heart

dis-

I I.

906-908.
2.

3.

CARLGREN,

L. Incidence
of congenital
children
in Gothenburg

ease

in

Brit.

Heart

CAROL,

VON

7.,

1959,

W. L. L.,

J. R., and

2!,

1941-1950.

4.

PRICK,

12.

40-50.

GODFRIED,

E. G.,

PRAK-

J. J. G.

v. Recklinghausensche
neurofi broma tosis
a trophoderm
ia
vermiculata
und
kongeni
tale
Herzanomalie
als Hauptkennzeichen
eines
familien
heredit#{228}renSyndroms.
Dermatologica
(Basel),
1940,
8z, 345-365.
KEN,

F. W., SCHULL,
\V. J., and NEEL,
J. V.
A Clinical,
Pathological
and Genetic
Study
of Multiple
Neurofibromatosis.
Charles
C

13.

6.

7.

heart

Defects:

Volume

Original
5. Pp.
MACMAHON,
B.,
R. G. Incidence
dren
with
Heart7.,

CROWE,

Publisher,
Springfield,
Ill., 1956.
N. L., and YANKOVAC,
W. C. Neurofibromatosis
in childhood. 7. Pediat.,
1970,
76, 339-346.
FLEMING,
M. P., and MILLER,
W. E. Renovascular hypertension
due
to neurofibromatosis:
report
of case.
AM. J. ROENTGENOL.,
RAD.
THERAPY
& NUCLEAR
MED.,
1971, 113,
452454.
GLENN,
F., KEEFER,
E. B. C., SPEER,
D. S., and
DOTTER,
C. F. Coarctation
of lower
thoracic
and abdominal
aorta
immediately
proximal
to

heart
disease.
IV. Congenital
associated
with
neurofibromatosis.
Number

14.

MENA,
FRY,

lar

Thomas,

J. F., and WRIGHT,

E. M. Radiologic
features
of neurofibromatosis.
Radiology,
I 948,
5!, 647-664.
HUNT,
J. C., and PUGH, D. G. Skeletal
lesions in
neurofibromatosis.
Radiology,
i 96 I
76, 1-20.
KAUFMAN,
R. L., HARTMANN,
A. F., and McALISTER,
W. H. Family
studies
in congenital
HOLT,

E.,
\V.

1973,

15.

Series.

VIII.

92-95.
MCKEOWN,

and

F., and
life expectation

congenital
1953,

disease
Birth

15,

heart

RECORD,

of chil-

disease.

Brit.

121-129.

J. J.,

BOOKSTEIN,

J.

HOLT,

J. F., and

Neurofibromatosis
hypertension
in children.

GENOL.,

FIENMAN,

Article

In:

RAD.

ii8,

IHERAPY

3-45.

W. F.,

MESZAROS,

F., and

GUZZO,

Neurofibromatosis.
RAD.

and renovascuAM. J. ROENT& NUCLEAR

MED.,

AM.

&

THERAPY

NUCLEAR

J.

SCHORSCH,

H.

ROENTGENOL.,
MED.,

98,

1966,

557-569.
16.

ROSENQUIST,

G. C., KROVETZ,
L. J.,
A. L., and BONNAYAN,

J. A., SIMON,
Acquired
tion
in

Heart 7.,

right

ventricular

child

with

1970,

79,

outflow

neurofibromatosis.
103-108.

HOLLER,

G. A.
obstrucAm.