title: Upper limb malformations associated with congenital heart disease.
abstract: Upper limb malformations occur in patients with congenital heart disease as multifactorial, chromosomal or teratogenic combinations, and can be predictable (nonrandom) or sporadic (random) associations. The cardiac and limb defects represent either essential features of a syndrome or less common or less significant components. A practical classification is proposed based on the frequency and relative consistency of upper limb and cardiac associations. Recognition of upper limb malformations helps to identify accompanying cardiac disease and aids in the choice of diagnostic and therapeutic interventions in determination of prognosis and in genetic counseling. Upper limb malformations are the commonest skeletal abnormalities in patients with congenital heart disease, but it is also important to know with which limb defects concordance is low.
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000209:etiology*; D001132:Arm / Q000002:abnormalities*; D002869:Chromosome Aberrations; D006330:Heart Defects, Congenital / Q000145:classification / Q000150:complications*; D006801:Humans; D013577:Syndrome