Genetics of Atrial Septal Defect
نویسندگان
چکیده
Sanchez Cascos, A. (1972). Archives of Disease in Childhood, 47, 581. Genetics of atrial septal defect. Of 109 cases of atrial septal defect, cases with an isolated defect (92 cases) showed a female preponderance (sex ratio 0 64), but there was a higher risk to the sibs of the male patients, suggesting a multifactorial mechanism. Dermatoglyphs showed a large number of whorls on the fingers. In 17 cases there were multiple malformations, such as Holt-Oram syndrome (hypoplastic and triphalangic thumb, with ostium secundum atrial septal defect), polydactyly plus ostium primum defect, and tracheo-oesophageal fistula.
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5 List of papers 7 Abbreviations 7 Introduction 8 Embryology 8 Genetics 10 Anatomy of the atrial septum 10 Classifications of shunt lesions at the atrial level 11 Incidence of atrial septal defect 13 Haemodynamics 15 Quantification of shunts – methodological aspects 19 Natural history 24 Clinical presentation 25 Atrial septal defect and pulmonary hypertension 26 Atrial septal defect and atrial ...
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