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 A 10 days old female baby brought by parents with c/o-
abnormality of right upper limb since birth.

 BIRTH HISTORY:
 Antenatal :booked case;Inj.T.T;iron and folic acid
multivitamin supplementation taken.
 No h/o diabetes,hypertension,thyroid disorders,fever
with rash.
 No h/o any drug intake.
 Natal :term gestation,born though spontaneous
vaginal delivery,cried immediately after birth,birth
weight-2.5 kg.
 First born female child of non consanguionous
marriage

 General examination:Baby warm,pink.
 Cry,tone-normal.
 No pallor,icterus,cyanosis,clubbing.
 Heart rate-122/min;R.R-42/min;CFT<3sec.
 SYSTEMIC EXAMINATION:
 Respiratory:normal vesicular breath sounds.
 CVS-s1s2 heard,no murmurs.
 P/A-soft.
 LOCAL EXAMINATION:right upper limb—flexed at
elbow and wrist.
 Forearm pronated.ABSENT THUMB.

 INVESTIGATIONS-
 CBP-Hb-14.2gm%,TWBC-7400cells/cc(N-62%,L-
34%,E-1,M-2,B-0);Platelets-2.2lakh/c
 USG ABDOMEN-normal study.
 2D Echo-osteum secundum type ASD.
 X-RAY RIGHT UPPER LIMB-ABSENT RADIUS.
.

HOLT ORAM SYNDROME
 Also called---Cardiac limb syndrome,cardiomelic
syndrome,atriodigital dysplasia,heart-upper limb
syndrome.
 Genetically determined disorder in which aplasia or
hypoplasia of digital rays and/or radius associated with
congenital heart disease.
 Holt and Oram first descibed this in 4 generation
family with atrial septal defects and thumb
abnormalities.

 CAUSES—Autosomal dominant and highly penetrant.
 Initial linkage studies demonstrate gene defect on the
long arm of chromosome 12.
 Molecular genetics revealed mutations that inactivate
the transcription factor TBX5,which is important in
the development of both upper limb and heart.
 Sporadic disease represent a de novo germline
mutation in TBX5.

EPIDEMIOLOGY
 Frequency—0.95 cases per 1lakh total births.85% are due to
new mutations.
 Sex—no sexual predilection.
 Age– present at birth.
 Subtle limb involvement may not become clinically
apparent until later in life when cardiac symptoms of
disease manifest or when an individual has a child with
more severe presentation of the syndrome.
 Cardiac conduction disease is progressive with aging.
 Middle aged individuals often present with AV block or AF.

CARDIAC MANIFESTATIONS
 ASD(ostium secundum and primum)
 VSD.
 CONDUCTION DEFECTS.
 MS,MVP,PDA,TOF,PS, TGA.
 Coarctation of aorta,aortic arch malformations
 Replaced subclavian artery.
 Persistent left superior venacava.
 Hypoplastic left heart.

SKELETAL DEFORMITIES
 Unilateral or bilateral and asymmetrical.
 Absent thumb,triphalengeal thumb.
 Pouse flotant(thumb connected by skin tag).
 clinodactily.,syndactily.
 CARPAL BONE ANOMALIES.
 Radial ray aplasia.
 Aplasia of first metacarpals.
 Phocomelia.
 Shoulder defects.

 HOLT ORAM SYNDROME IS EXCLUDED IF ANY
FOLLOWING ANOMALIES PRESENT---
 Ulnar bone
 Lower limbs
 Kidneys,eyes
 auditory,
 Craniofacial
 Vertebral(may or my not occur in HOLT ORAM)

 PROGNOSIS—depends on severity of cardiac lesions.
 Significant intracardiac shunts associated with sudden
death, pulmonary hypertension , Eisenmenger
syndrome.
 The first clinical manifestation may be heart
failure,cardiac arrhyhmias(including heart block)or
infective endocarditis.

Differential diagnosis:
 VACTERL
 TRISOMY 18 ( EDWARD)
 THALIDOMIDE EMBRYOPATHY
 Fanconi ‘s anemia
 TAR syndrome

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