CONGENITAL COMPLETE HEART
BLOCK IN NEONATAL LUPUS
1Alok Hemal, 2Amieleena
Chabra, 3Mahesh Chand Meena
Senior Resident,2 Postgraduate3 Departments of Pediatrics
. Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar
Lohia hospital, New Delhi, 110001.
Gerbezius in 1718 was the first physician to report the slow pulse of block1.
Morgeni in 1791 published a description of a patient with slow pulse and
seizures. However it was not until 1901 that Morquio described a family in which
several siblings were afflicted with a syndrome of slow pulse, syncopal attacks
and sudden death in early childhood2. It is difficult to define
precisely the incidence of the rare disorder in the community. In an
International study3 from 44 pediatric centers in Europe, U.S.A.,
Canada and Mexico, a total of 599 infants and children with congenital complete
heart block were evaluated. It was estimated from this study that the incidence
of this disorder laid between 1:15,000 and 1:20,000 live births. It has been
noted in 0.4-0.6 percent of all the children examined for possible Congenital
Heart Disease in large referral Pediatric Cardiac Centers4-5.
Isolated Congenital Heart Block (CHB) in a structurally normal heart is almost
invariably associated with the presence of maternal antibodies to the
intracellular ribonucleoproteins Ro (SS-A) and La (SS-B) 6-7. This
near universal association suggests that isolated CHB is a passively acquired
autoimmune disease, in which maternal autoantibodies cross the placenta and
injure the previously normal fetal heart. Other neonatal abnormalities including
cutaneous manifestations, cholestasis and cytopenias are also associated with
Anti Ro and La Antibodies in the maternal and fetal circulation and are now
grouped under the heading Neonatal Lupus Syndrome (NLS). This term derived from
the resemblance of the neonatal rash to the subacute cutaneous rash of Systemic
Lupus Erythematosus (SLE) in adults – is clearly a misnomer, as the newborn does
not have a systemic autoimmune disease and the mother may be completely
asymptomatic. The noncardiac manifestations of NLS are generally transient,
resolving at about 6 months of life coincident with the disappearance of
maternal autoantibodies from the neonatal circulation. To date, however,
complete (third degree) heart block is essentially irreversible. The relative
rarity of autoimmune-associated CHB has posed a challenge to clinical and
term newborn male baby weighing 2.35 kg was admitted on second day of life with
history of respiratory distress, tachypnea, feeding difficulty and groaning
since birth. The child was delivered normally at a private hospital and cried
immediately after birth. The patient was second in order of birth. Previous sib
had Congenital Complete Heart Block and expired at 2 months of age. That child’s
echocardiography had shown atrioventricular block but no structural
abnormalities in the heart. There was no history of consanguinity, maternal
fever, rashes, joint pain or drug intake. Mother was positive for Anti
ribonucleoprotein antibody (Anti Ro +ve). Lupus Anticoagulant, Antinuclear
Antibody and L.E. cells were negative. Fetal Echocardiography showed a complete
heart block. The mother was not on regular follow-up in antenatal period and not
receiving any treatment. On examination, the child’s general condition was
unsatisfactory. The child was hypothermic, groaning and cyanosed. Cry activity
and neonatal reflexes were decreased. There was marked respiratory distress;
respiratory rate was 72 per minute with inter costal and sub costal recessions.
Heart rate was 42 per minute and blood pressure was 60/40 mmHg. All peripheral
pulses were palpable. The pupils were dilated and minimally reaction to light.
There were popular rashes all over the body.
Cardiovascular system examination revealed the Apex beat on the left side in the
fourth intercostal space. Heart sounds were normal and no murmur was audible all
over praecordium. Liver was 3.5 cm below costal margin on the mid-clavicular
line and the spleen was just palpable. Crepitations were heard bilaterally on
chest examination. No other obvious congenital anomaly was found. On
investigations blood sugar was 90 mg/dl, oxygen saturation 84% in room air, Hb
was 13.9 gm/dl, TLC-26,900/cu mm, micro ESR – 18mm, Platelet count – 1 lack and
band cells – 40% of neutrophils. Serum electrolyte, blood urea and serum calcium
were within normal limits. Liver enzymes were increased (AST-418 units/1, ALT
-124 units/1. Prothrombin time was prolonged. Chest X-ray showed cardiomegaly.
On electrocardiogram atrial rate was 55 per minute and ventricular rate was 37
per minute. P wave marched throughout QRS complex and there was no conduction to
ventricle. QRS complex deviation was 0.03 seconds. It was suggestive of complete
blood group was A+ve and mother’s O+ve. TORCh and VDRL of both mother and baby
were negative. Antiribonucleoprotein (Anti Ro) of mother was positive.
2D-Echocardiography revealed Complete Heart Block, Atrial rate was 55 per minute
and ventricular rate was 35 per minute. The child was diagnosed as a case of
Congenital Complete Heart Block with septicemia. The child was transferred to
intensive care unit. The baby was kept nil orally and managed with oxygen
inhalation, intravenous fluid, antibiotics and warmer care. Injection Atropine
in a dosage of 0.03 mg/dose subcutaneously was given, whenever required. Inspite
of all resuscitative measure, the child expired within few hours of admission.
classic description of neonatal lupus is one of a fetus or newborn discovered to
have a slow heart rate due to CHB in the absence of causative structural
abnormalities, for which laboratory investigation revealed Antibodies to Ro and
/or La in the maternal serum. Although the mother may have SLE, Sjogren’s
Syndrome (SS) or an undifferentiated autoimmune syndrome, many mothers are
entirely asymptomatic. Our child had Heart Rate of 42 per minute, 2-D Echo had
shown Atrioventricular Block without any structural abnormalities in the heart.
Anti ribonucleoprotein of mother was positive, although mother was asymptomatic.
mechanism of damage and causative pathways in neonatal lupus congenital heart
block are not completely understood. Presumable the fetus develops normally
until maternal IgG antibodies against the intracellular ribonuclear proteins Ro
and La are actively transported across the placenta beginning at 12 weeks of
gestation9. The antibodies are thought to bind to cells of the fetal
conduction system, producing an early inflammatory cascade, later scarring and
fibrosis10-11. The mechanism of late cardiomyopathy is unclear since
maternal antibodies are often absent.
cases are discovered in utero most commonly between 18 and 24 weeks of
gestation. The degree of heart block includes all levels from first degree
discovered only incidentally on electrocardiogram (i.e. after birth), though
third degree complete heart block with ventricular rates below 50 beats per
minutes. Mortality (including feta demise) is 20; the highest mortality occurs
in prematurely delivered newborns in the first few month of life8.
Current practice suggests that virtually all patients with complete heart block
will have a pacemaker at some point in their lives8. Unfortunately,
conduction system disease alone in not the whole story in NLS. There is a
disturbingly high incidence of late cardiomyopathy leading to low output
congestive heart failure, death or transplant, even after successful pacemaker
implantation for the associated heart block8,12. Other organ systems
maybe involved in the newborn, in the presence or absence of CHB. The
characteristic NLS rash involves the scalp and face, particularly the
periorbital region and is photosensitive. Occasionally newborns of mother with
Anti Ro/ La antibodies may present with various cytopenias6, 12,13
and/or liver enzyme abnormalities14,15. The incidence of neonatal
lupus in an offspring of a mother with Anti Ro antibodies is estimated at 1-5%7,
16,17. When an Anti Ro positive mother has previously given birth to a
child with NLS, the risk of CHB in a subsequent pregnancy rises to approximately
child had completed Atrioventricular Block. Previous sib also had complete
Atrioventricular Block and expired at 2 month of age. This child had cutaneous
rashes and liver enzymes were raised.
identification of fetal bradycardia by either auscultation or routine obstetric
ultrasound should prompt two immediate responses. The first is to obtain a 2-
dimensional and M-mode fetal echocardiographic and Doppler ultrasound to
document whether there is an Atrial arrhythmia or AV block and to what degree.
The second response is to evaluate the mother’s serum for the presence of Anti
Ro with or without Anti La antibodies. The ELISA is the most common and probably
the most sensitive method for detection of these antibodies.
child 2-D fetal echocardiography suggested complete heart block. Unfortunately,
mother was not on regular follow-up and had not received any medication.
CHB is most often identified between 18 and 24 weeks of gestation, intrauterine
therapy ought to be possible. The clinical approach includes obstetric and
rheumatologic management of both the fetus identified with CHB and the fetus
with a normal heart rate but at high risk of developing CHB. In either situation
the critical decision is whether or not any treatment is necessary. Guidelines
are not well established and are based empirically on anecdotal evidence.
Several intrauterine therapeutic regimens have been tried, including
dexamethasone19, 20 which is not metabolized by the placenta and is
available to the fetus in an active form and plasmaphoresis21.
Recently in the United States a multicenter prospective trial has been initiated
to evaluate the efficacy of 4 mg/day of dexamethasone (taken orally by the
mother) in the treatment of newly identified first, second or third degree
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