Heart-Hand Syndrome with Sub-aortic Membrane - A Case Report

Abstract

Background-Congenital cardiac and upper-
limb malformations frequently occur
in association and are classified as heart
-hand syndromes. The classical form of
Holt-Oram syndrome is an autosomal
dominant disorder characterized by congenital
cardiac and forelimb anomalies,
first described byHolt Oram in a family
with atrial septal defect and congenital
anomalies of the thumbs in 1960.Case
report- A 28-year old male with anomalies
in both upper limbs was admitted
with history of NYHA Class III dyspnea
and fever of 1 week duration There was
no family history of heart disease. On examination,
was short-statured and had
skeletal anomalies in both his upper
limbs. Cardiovascular examination revealed
grade 4 pansystolic murmur in the
left parasternal area and bilateral basal
rales in both lung fields.Skeletal X-rays
showed hypoplastic thumb in left hand
and club radius and ulna with hypoplastic
thumb on the right side. Transthoracic
Echocardiogram (TTE) revealed a small
perimembranous ventricular septal defect
(VSD)witha sub-aortic membrane
and mild aortic regurgitation .
A vegetation was seen attached to the aortic
side of the right coronary cusp .His
blood cultures grew Corynebacterium species
which was treated with parentral antimicrobial
therapy for 4-weeks after which
he was referred for surgical correction of
his cardiac defects.Conclusion- The heterogeneity
of presentation of Heart-hand
syndromes is well known. Our patient,
probably a sporadic mutant had ventricular
septaldefect, sub-aortic membrane ,aortic
regurgitation and infective endocarditis of
the aortic valve as cardiac defects. Subaortic
membrane has hitherto never been
reported in association with Holt-Oram syndrome
in literature.