Holt-Oram syndrome revisited. Two patients in the same family

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We repo...

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Bibliographic Details
Published in:Arquivos brasileiros de cardiologia 1999-11, Vol.73 (5), p.429-434
Main Authors: Frota Filho, J D, Pereira, W, Leiria, T L, Vallenas, M, Leães, P E, Blacher, C, Lúcio, E, Lucchese, F A
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adult
Eosinophilia - diagnosis
Hand Deformities, Congenital - diagnosis
Hand Deformities, Congenital - genetics
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
Male
Pedigree
Syndrome
Thumb - abnormalities
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Summary:Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.
ISSN:0066-782X
1678-4170