The Upper Limb-Cardiovascular Syndrome: An Autosomal Dominant Genetic Effect on Embryogenesis

The inherited association of congenital cardiovascular anomalies and malformations of the upper extremities is documented in a family with 18 affected members in three generations. The most common cardiac lesion was an atrial septal defect but more extensive and severe cardiovascular lesions were observed causing death in infancy in four patients. The most frequent skeletal defect was absence or hypoplasia of the thumbs. However, a variety of other lesions affecting the upper extremity including phocomelia (seal limbs) were noted. The term “upper limb-cardiovascular syndrome” is suggested to describe this condition. This syndrome is the result of an autosomal dominant mutation with variable expressivity acting at about the fifth week of embryogenesis when the heart and upper limbs are differentiating.