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Indian Pediatr 2013;50: 855 |
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Treatable Cause of Ventricular Dysfunction in
DiGeorge Syndrome
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Neeraj Awasthy and Sanjay Khatri
Department of Pediatric Cardiology, Fortis Escorts
Heart Institute, Delhi, India.
Email: [email protected]
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Hypocalcemia is a known cause of
reversible cardiomyopathy and DiGeorge syndrome is an
important cause of hypocalcemia. A 17 days old 2.3 kg female
child, first in birth order, born to a primigravida mother
by full term LSCS started having tonic-clonic jerks on day 8
of life and was also noticed to have bluishness of lips and
nails, when she was referred to us. Child had intermittent
episodes of tonic clonic seizures on admission. On
examination, her hemodynamic parameters were stable;
saturation was 74% in room air and there was cyanosis.
Precordial examination revealed no cardiomegaly. S1was
normal, S2 was single. There was a continuous murmur at
infraclavicular area. Per abdomen – liver 2cm below right
costal margin. Rest of the systemic examination was
unremarkable. Echocardiography revealed pulmonary atresia
with ventricular septal defect (VSD) with biventricular
dysfunction (LVEF = 35%). Blood investigations revealed
hypocalcemia (calcium = 4 mg/dL) for which correction was
given intravenously. Qtc of the patient was 540
milliseconds. She underwent CT pulmonary angiography which
revealed atresia of main pulmonary artery and hypoplastic
confluent pulmonary arteries, VSD, two moderate size aorto-pulmonary
collateral and aberrant right subclavian artery; thymus was
not seen. FISH test showed Di-George Syndrome. Mother sample
for calcium and alkaline phosphatase was within normal
limits (calcium=9.5mg/dL, alkaline phosphatase = 144u/L). At
discharge on oral calcium, there was marked improvement in
ventricular function (LVEF = 50%) with no recurrence of
seizure activity. As the baby was maintaining a saturation
of about 86% it was advised to follow up for saturation
monitoring and surgery at a later date.
22q11.2 deletion syndrome has several
presentations including DiGeorge syndrome (DGS).
Hypocalcemia is relatively common in children with DiGeorge
syndrome with incidence rates varying from 17 to 60%.
Especially young infants have a high incidence of
hypocalcemia. Myocardial dysfunction in patients with
hypocalcemia is well described in the literature [1-4] but
their association has been reported scantily [1,2].
Considering such an impact of
hypocalcemia on myocardial dysfunction, it is prudent to
consider that a case of DiGeorge syndrome associated with
hypocalcemia is likely to cause ventricular dysfunction.
Hypocalcemic cardiomyopathy shows excellent results with
treatment. In any child of DiGeorge syndrome presenting with
myocardial dysfunction hypocalcemia should be included in
the differential diagnosis and must be investigated as this
is a reversible cause of cardiomyopathy.
References
1. Uysal S, Kalayci AG, Bysal K. Cardiac
function in children with vitamin D deficiency rickets.
Pediatr Cardiol.1999;20:283–6.
2. Tomar M , Radhakrishnan S, Shrivastava
S. Myocardial dysfunction due to hypocalcaemia. Indian
Pediatr. 2009 Oct 14. pii: S097475590800421-2.
3. Goulet M, Rio M, Jacquette A,
Ladouceur M, Bonnet D. Neonatal hypocalcaemic dilated
myocardiopathy due to a 22q11 microdeletion. Arch Mal Coeur
Vaiss. 2006;99:520-2.
4. Maiya S, Sullivan I, Allgrove J, Yates R, Malone M,
Brain C, et al. Hypocalcemia and vitamin D
deficiency: an important but preventable cause of life
threatening infant heart failure. Heart. 2008;94:581-4.
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