UPPER-LIMB CARDIOVASCULAR SYNDROME - A FAMILY STUDY

A family in which the upper limb-cardiovascular syndrome was found in at least 3 generations is reported. It is suggested that this disorder is heterogeneous, and that a number of genes or the environment, or both, can potentially influence the development of both the cardiovascular and skeletal systems during the critical early developmental period. Although simply inherited cardiovascular anomalies form only a small part of the spectrum of congenital heart disease, careful attention to the remaining physical examination and the family history may reveal evidence of the operation of single gene mutations which potentially can be biochemically defined. In this fashion the presence of heterogencity can be established.