Cardiac malformation with other abnormality

Around the fourth week in-utero, many things are happening, including heart chamber and limb bud development. The coincidence allows the possibility that something affecting the limbs may also affect the heart.

Holt-Oram (cardiomelic) syndrome is an association with fusion or absence of components of the upper limb, which is associated with cardiac anomalies, usually atrial septal defect. Occasionally Ventricular septal defect may be found. Inheritance is thought to be dominant.

There are a number of other conditions that are associated with cardiac abnormalities.

Of the chromosomal abnormalities,
Trisomy 21, Downs syndrome, mongolism, has endocardial cushion defects.
Trisomy 18, and Trisomy 13-15, do not survive beyond infancy , but are associated with septal defects and abnormalities of septation of the ventricular outflow tract.

Turners syndrome, (if gonads are normal it will be Ulrich's syndrome) Short webbed neck, short stature, widely spaced nipples, valgus deformities at elbow, Coarctation and aortic stenosis.
( these aortic abnormalities are more common in Ulrich's syndrome ).

Homocysteinuria and osteogenesis imperfecta are associated with aortic dilatation.