Abstract

Heart–hand syndromes show substantial clinical and genetic heterogeneity. The unusual case of a patient with a heart–hand syndrome consisting of preaxial polydactylia, postaxial syndactylia, parachute mitral valve, mild subaortic stenosis, and double outlet right ventricle is presented and discussed. The importance of distinguishing Holt–Oram syndrome from its phenocopies and other heart–hand syndromes is underlined.

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