The upper limb-cardiovascular syndrome (Holt-Oram syndrome) in a South African family.
The upper limb-cardiovascular syndrome is reported for the first time in a South African family. There were 6 affected members in 3 generations. Infradiaphragmatic total anomalous pulmonary venous drainage, with obstruction, was found in 1 child. This rare cardiac abnormality, which constitutes only 8,5% of all cases of total anomalous pulmonary venous drainage, itself an unusual abnormality, has not previously been reported in association with the Holt-Oram syndrome.
D000328:Adult; D001132:Arm / Q000002:abnormalities*; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D002648:Child; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011667:Pulmonary Veins / Q000002:abnormalities; D013577:Syndrome