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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The autosomal dominant association of upper extremity skeletal defects with congenital heart disease is known as the Holt-Oram syndrome. We reviewed our experience with 39 affected patients of whom 15 were considered new mutations. Wide varieties of skeletal defects and congenital heart disease were observed, and the severity of skeletal involvement did not parallel that of cardiac disease. These patients demonstrate four previously unemphasized points: (1) There is a striking asymmetry of skeletal involvement, with the left side more severely affected. (2) Patients with skeletal defects alone can transmit both skeletal and cardiac defects to their children. (3) Hypoplastic peripheral vessels may be an associated abnormality and can result in difficulty with cardiac catheterization. (4) Electrocardiographic changes of terminal conduction delay in the right anterior chest leads were nor uniformly present in patients with otherwise typical secundum atrial septal defects.
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PMID:Holt-Oram syndrome. 48 27

Two cases of Holt-Oram syndrome with an atrial septal defect and thumb deformities are reported. The embryological basis for the association between skeletal malformations particularly of the hand, and congenital heart disease, is discussed.
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PMID:Upper-limb-cardiovascular syndrome. Two cases of Holt-Oram syndrome. 71 Sep 83

A case of the Holt-Oram syndrome is described, that is, the association of a skeletal anomaly of the superior limbs, with a constant involvment of the thumbs, and an ostium secundum defect with a prolonged P-R interval. The case presented has the peculiarity of being sporadic, while from the literature a familiarity is almost constant via an autosomic dominant hereditary transmission. The more common syndromes were an alteration of the superior limbs is associated with a congenital cardiopathy are schematically underlined. Finally, the embriological reasons of this not rare association are briefly discussed.
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PMID:[The Holt-Oram syndrome: report of a case (author's transl)]. 101 Feb 53

The association of hypoplastic thumb and atrial septal defect, (Holt-Oram syndrome) with a prolapsed mitrial valve is described. Recognition of this association adds further support to the concept that the prolapsed mitrial valve syndrome is not necessarily an isolated cardiac disorder but may be part of a more generalized heritable disorder of connective tissue.
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PMID:Prolapsed mitral valve associated with the Holt-Oram syndrome. 111 3

A family of Holt-Oram syndrome is reported. Twenty of 41 living members in the last 3 generations were examined. The propositus expressed typically the cardinal features of this syndrome: atrial septal defect, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb. Two individuals were clinically diagnosed to have atrial septal defect without any upper limb anomaly, and 3 showed upper limb anomaly without any sign of congenital heart disease. Other 5 members showed only minor abnormalities, such as funnel chest or mild right ventricular hypertrophy on ECG and VCG. Some of the skeletal abnormalities observed were hitherto undescribed ones. These include generalized hypoplasia of left hand and downward displacement of right sterno-clavicular joint.
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PMID:A family of Holt-Oram syndrome. 115

This report is concerned with a patient successfully operated for Holt-Oram syndrome. The disorder is inherited dominantly with complete penetrance and variable expressivity. It is pointed out that in cases of congenital heart disease familial cumulation must be borne in mind which can easily be verified by pedigree investigation. After demonstrating autosomal dominant inheritance, suitable inferences must be drawn for genetic counseling. Attention is drawn to the heart-surgical significance of the rhythm disorders so often associated with the syndrome.
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PMID:An operated case of Holt-Oram syndrome with autosomal dominant inheritance. 125 86

A 44 year old woman with upper limb skeletal malformations and endocardial cushion defect is described. This congenital heart disease was rarely reported in association with Holt-Oram syndrome.
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PMID:[Complete endocardial cushion defect and bone malformations of the hands. Holt-Oram syndrome]. 174 80

Holt-Oram syndrome (HOS) is a dominant inherited disorder which causes skeletal defects of the arms and heart disease. This report describes a 2-year-old child with HOS whose skeletal anomalies affected his functional capabilities and developmental sequence. A comprehensive evaluation of the child, which included radiographic, cardiac, gross and fine motor assessment, electrodiagnosis and consideration of surgery, resulted in a carefully formulated treatment plan. Review of the literature emphasizes the importance of selectively balancing conservative management with surgery for a satisfactory cosmetic result and optimal function.
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PMID:The Holt-Oram syndrome: a case presentation and review of management parameters. 380 Jun 24

The Holt-Oram syndrome, first described in 1960, consists of non-cyanotic congenital heart disease, usually an atrial septal defect, arrhythmias and malformations of the upper limbs affecting the radial segment. The transmission of the syndrome is autosomal dominant with almost complete penetrance. The authors report the localisation of a genetic abnormality of the Holt-Oram syndrome on the long arm of chromosome 12 (12q21-q3) by analysis of linkage in 9 multiplex families (Zmax = 8.19 at locus D12S354). Multipoint analysis showed a genetic interval of 7 centimorgans containing a gene of the Holt-Oram syndrome between loci D12S84 and D12S79 (multipoint lod score, 10 g base 10 = 8.96). In situ hybridization of artificial yeast chromosomes containing the surrounding markers showed that a gene of the Holt-Oram syndrome is located in 12q23-q24. The genetic heterogeneity was demonstrated in 3 families of the Holt-Oram syndrome with polydactyly or without cardiac disease (homog-test: chi 2 = 13.28; p = 0.0001). The localisation of a gene of the Holt-Oram syndrome is, to the authors' knowledge, the first chromosomal localisation of a cardiac malformation with septal defects in man. The identification of this gene should open wide perspectives for genetic research of cardiac morphogenesis and clarify the molecular mechanisms which govern cardiac septation during embryogenesis.
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PMID:[Gene localisation in 12q12 in Holt-Oram atrio-digital syndrome]. 764 74

In spite of the amazing success during the past half century in diagnosis and treatment of congenital heart disease, very little is known of its cause. However, a genetic cause has been clearly established for many forms of cardiovascular disease, and new understandings in the molecular genetics of congenital heart disease provide further insight. Progress has been quite impressive for some cardiovascular abnormalities, whereas in other areas the findings are more preliminary. For example, the molecular genetic cause of supravalvular aortic stenosis and the heart disease associated with Marfan syndrome has been clearly established. Impressive progress has been made in conotruncal defects, Holt-Oram syndrome, Alagille syndrome, and total anomalous pulmonary venous connection. In other areas, such as patent ductus arteriosus and atrioventricular septal defect, the findings are more preliminary. Taken as a whole, the prospect of understanding the genetic basis of congenital heart disease has never been better. Understanding the cause of congenital heart disease will provide new insights into both normal cardiac development and the pathophysiologic basis of congenital heart defects.
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PMID:New understandings in the genetics of congenital heart disease. 894 32


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