CARDIOVASCULAR JOURNAL OF AFRICA • Vol 23, No 2, March 2012
AFRICA
e3
Case Report
Rare cardiac defect in Holt–Oram syndrome
R SINHA, D NEMA
Abstract
Holt–Oram syndrome is an autosomal dominant condi-
tion associated with skeletal malformations of the upper
limbs, and congenital heart disease. Approximately 40% of
cases represent new mutations. Defective development of
the embryonic radial ray (e.g. aplasia, hypoplasia, fusion,
other anomalous development) results in a wide spectrum
of phenotypes, including triphalangeal or absent thumbs,
foreshortened arms and phocomelia. The syndrome is associ-
ated with defective development of cardiac structures that
results in atrial septal defect (ASD), most commonly the
secundum type, heart block of varying degrees, or both. We
report a rare cardiac defect patent ductus arteriosus (PDA)
and ventricular septal defect (VSD) in a case of Holt–Oram
syndrome.
Keywords:
VSD, PDA, polydactly
Submitted 13/11/10, accepted 15/4/11
Cardiovasc J Afr
2012;
23
: e3–e4
DOI: 10.5830/CVJA-2011-017
Holt–Oram syndrome (HOS) (OMIM 142900) is a heart–upper
limb malformation complex with an autosomal dominant inherit-
ance and near-complete penetrance but variable expression. Holt
and Oram first described this syndrome in 1960. Approximately
40% of cases represent new mutations.
Case report
A 3-kg term male neonate was born to a 26-year-old primi-
gravida by normal vaginal delivery. The baby cried immediately
after birth and was started on breast feeds within 30 min of birth.
The antenatal period was uneventful. There was no history of
congenital heart disease in the family members. The anthropom-
etry revealed length of 48 cm, head circumference of 35 cm and
weight of 3 kg. The baby was noted to have extra digit on the
radial side of the right hand (Fig. 1).
The vital parameters were within normal limits. There was
ejection systolic murmur grade II/VI, best heard in the left
infraclavicular region. The echocardiography done at this time
did not reveal any defects. The chest X-ray did not reveal any
abnormality and an X-ray of the right hand showed an extra
digit on the radial side of the right hand (Fig. 2). The complete
blood count did not reveal any thrombocytopenia. The renal scan
was normal and there was no other skeletal deformity. The baby
was discharged on day 10 of life and the parents were asked for
regular follow up in the paediatric out-patient department (OPD).
They did not return for follow up.
The child was brought at two years of age for follow up. The
child was thriving well and cardiac evaluation revealed a pansys-
tolic murmur (grade III/VI) at the left sternal edge. The chest
X-ray revealed pulmonary plethora and left ventricular pattern
cardiomegaly (Fig. 3). Echocardiography revealed subaortic
VSD (2 mm) with tissue tag covering the right ventricular side
and a small patent ductus arteriosus (PDA) (1.5 mm) (Fig. 4).
Presently he is under follow up in cardiology, paediatric and
orthopaedic OPD.
Department of Paediatrics, Military Hospital, Pathankot,
India
R SINHA, MD, DNB PAEDS,
Department of Radiology, Military Hospital, Bareiley, India
D NEMA, MD
Fig. 1. Extra thumb on the right hand.
Fig. 2. X-ray of the right hand showing the extra thumb.
