Congenital malformations - Edocr

178 PART V CARDIAC MALFORMATIONS
Figure 27-1. Infant with trisomy 18, a condition
associated with cardiac defects in over
90% of cases. Cardiac septal defects are the
most common lesions observed. Other typical
findings seen in this infant include micrognathia,
dysmorphic ears, overlapping fingers, a short
sternum, and exaggerated cutis marmorata.
A radial defect and club hand are noted on
the left.
Figure 27-2. Infant with trisomy 13, a condition
associated with cardiac defects in over
90% of cases, with ventricular septal defect
being the most common. Other characteristic
features include scalp defects, eye anomalies
such as anophthalmia (as in this case),
microphthalmia or colobomas, a large bulbous
nose as seen here, cleft lip or palate
and polydactyly.
VENTRICULAR SEPTAL DEFECT
INTRODUCTION
Ventricular septal defect (VSD) is a defect in the
closure of the ventricular septum of the heart
resulting in an abnormal communication between
the right and left ventricle.
DIAGNOSIS
The clinical findings in patients with a VSD vary
depending on the size of the defect. Many small
defects are asymptomatic and are diagnosed
on the basis of the characteristic holosystolic
murmur heard at the left sternal border. In the
case of larger defects associated with a large left