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Query: UMLS:C0265264 (HOS)
 1,119 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three men, aged 18, 21 and 27 years, underwent surgery for atrial septal defect of the ostium secundum. All had bilateral absence of the forearm and thumb, with the rest of the hand directly attached to the upper arm. The patients had been exposed to synthetic progestogens during early intrauterine development. The oldest patient is described, together with a 6-year-old boy with limb reduction and Fallot's tetralogy who was exposed to the contraceptive pill during the first 2 months of gestation. During surgery he was found to have atrial septal defect of the ostium secundum. The most plausible diagnosis in such cases is the Holt-Oram syndrome, but the teratogenic effect of the synthetic hormones may be an important aetiological factor. Both hypotheses are discussed.
Cardiovasc Surg 1993 Aug
PMID:Hormonal versus genetic factors in limb and heart anomalies. 807 64

The Holt-Oram syndrome (HOS) is characterized by mild-to-severe congenital cardiac defects and skeletal abnormalities of the upper limb. The most common cardiac disorder is an ostium secundum atrial septal defect (ASD), followed by ventricular septal defect (VSD) and ostium primum ASD. Electrocardiographic abnormalities, such as various degrees of atrioventricular block, have also been reported. In addition, hypoplastic peripheral vessels of the upper limbs have been observed. Here, we will report about a family with three sons having HOS, and we will detail the cardiac spectrum of HOS as reported in the literature.
Thorac Cardiovasc Surg 2002 Oct
PMID:Cardiac malformations associated with the Holt-Oram syndrome--report on a family and review of the literature. 1237 92

A rare and previously unreported combination of Holt-Oram syndrome, atrial septal defect, patent ductus arteriosus, isolated left atrial isomerism and inferior vena caval interruption with hemizygous continuation to the left superior vena cava is described.
Asian Cardiovasc Thorac Ann 2006 Apr
PMID:Holt-oram syndrome with hemizygous continuation of inferior vena cava. 1655 28

Congenital heart defects (CHDs) are the most common birth defects in humans and over the last 20 years significant progress has been made in the understanding of the molecular and genetic determinants of an increasing number of CHDs. Fundamental to this progress has been the contribution of five fields of research: the epidemiological results of the Baltimore-Washington Infant Study (BWIS); the pathogenetic classification introduced by Clark; the Human Genome Project; genotype-phenotype correlation and familial recurrence studies; and transgenic animals. The recently advanced cytogenetic techniques can now detect subtle rearrangements in chromosomes, which may be overlooked by standard methods and, more recently, molecular instruments such as linkage analysis and positional cloning are being used to identify genes causing Mendelian monogenic syndromes with CHDs, such as Holt-Oram, Ellis-van Creveld and Noonan/LEOPARD syndromes. Finally, useful information is yet available with regard to genes causing isolated CHDs in individuals who do not have a genetic syndrome (an example is the mutation of NKX2.5 and GATA4 genes causing atrial septal defect). The future perspectives for the genetics of CHDs will involve three fields of interest: diagnosis; therapy; and prognosis.
J Cardiovasc Med (Hagerstown) 2007 Jan
PMID:Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications. 1725 9

Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. Approximately 40% of cases represent new mutations. Defective development of the embryonic radial ray (e.g. aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms and phocomelia. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD), most commonly the secundum type, heart block of varying degrees, or both. We report a rare cardiac defect patent ductus arteriosus (PDA) and ventricular septal defect (VSD) in a case of Holt-Oram syndrome.
Cardiovasc J Afr 2012 Mar 12
PMID:Rare cardiac defect in Holt-Oram syndrome. 2244 8