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Familial Atrial Septal Defect With Atrioventricular Conduction Abnormalities

Mustafa Emir, MD, Temuçin Ogu, MD, Ömer Iik, MD, M Sertaç Çiçek, MD

Department of Cardiovascular Surgery Faculty of Medicine Maltepe University Maltepe, Istanbul, Turkey
For reprint information contact: Temuçin Ogu, MD Tel: 90 212 414 4444 Fax: 90 212 414 4400 email: togus{at}superonline.com Department of Cardiovascular Surgery, Acibadem Carousel Hospital, Halit Ziya Usakligil Caddesi #1, Bakirkoy, Istanbul 34710, Turkey.

	Abstract

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The occurrence of several cases of atrial septal defect in the same family is rare. A family in which the father and his two daughters presented with atrial septal defect associated with atrioventricular conduction abnormalities is described.

	Introduction

TOP Abstract Introduction Case Report Discussion References

 
Defects of the atrial septum are among the most frequently encountered congenital cardiac anomalies in clinical practice, and frequently occur in isolation. Although some embryological pathways have been proposed, there are no known events that predispose to an atrial septal defect (ASD). ASD is more prevalent in the female population, and it mostly occurs sporadically, without a history of congenital heart disease. However, there are familial forms characterized by the same type of the defect and these are frequently associated with certain skeletal abnormalities of the forearm and hand (Holt-Oram syndrome) or with prolongation of the PR interval and conduction abnormalities.^1,2 There is also occasionally a familial incidence without any other associated skeletal or conduction abnormalities.³

	Case Report

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Two sisters, aged 5 and 12 years, were referred to our institution for ASD repair. They had been born at term after uncomplicated pregnancies. Pregnancy history was unremarkable for both siblings. There was no family history of congenital cardiac disease among the relatives, except for the father who had undergone ASD repair at the age of 35, with subsequent pacemaker insertion following a syncopal attack due to second-degree atrioventricular block with atrial flutter one year postoperatively. Physical examination of the older sister who also had a pacemaker implanted 3 years previously after 5 syncopal episodes, revealed a low hair line, high cranial vault, abnormal facies, webbed neck, and high-arched palate, in addition to fixed splitting of the second heart sound and a 2/6 systolic murmur. The younger sister had only the cardiac findings. Chest radiography revealed normal cardiac size and increased pulmonary markings in both girls. They both had right bundle branch block and first-degree heart block in their electro-cardiograms. Holter electrocardiographic monitoring revealed first-degree heart block with occasional Mobitz type I and II block. A chromosomal analysis revealed no abnormalities in the parents or children. The two sisters were operated upon using an inferior ministernotomy approach. After the initiation of cardiopulmonary bypass and induction of fibrillation, the right atrium was opened and the anatomy was visualized. There was a common atrium with an extensive Chiari network in both cases. After resection of the Chiari network, the common atrium was partitioned using appropriately sized pericardial patches in both patients. They had uneventful postoperative courses and were discharged on the 5th postoperative day. There were no dysrhythmias during the postoperative hospital stay.

	Discussion

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Hereditary ASD is a rare lesion, generally transmitted in an autosomal dominant fashion, which may show highly variable phenotypic and genotypic features.^3,4 Familial forms of ASD are characterized by a high incidence of associated cardiac and noncardiac lesions such as atrioventricular conduction or skeletal abnormalities.^2,3 Megarbane and colleagues⁵ reported a family with 12 affected members having ASD in association with pathologies such as left axis deviation, right bundle branch block, atrial fibrillation, Wolf-Parkinson-White syndrome, nodal atrioventricular rhythm, aortic stenosis, pulmonic valve stenosis, mitral stenosis, and Ebstein anomaly. In another family having 6 members with ASD, 2 were reported to have additional congenital mitral insufficiency.⁶ Hereditary ASD may present with or without a prolonged PR interval.^3,4 Prolongation of the PR interval with atrioventricular block may be related to the considerable size of the defects as the potential cause of the conduction abnormality.³ Genetic studies showed that mutations in coding gene homeobox NKX2-5 transcription factor may result in a nonsyndromic type of human congenital heart disease. NKX2-5 is known to be involved in the regulation of septation during cardiac morphogenesis, and is also responsible for the lifetime support and maturation of the atrioventricular node.⁷ However, chromosomal studies showed no abnormalities in our patients. A study of the genealogical tree of this family suggested autosomal dominant transmission of the condition. We believe that definition of inheritance of congenital heart disease in a specific family has important consequences and in a patient with ASD, the presence of atrioventricular conduction abnormalities should prompt a detailed family history.

	References

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1. Basson CT, Solomon SD, Weismann B, Macra CA, Poznanski AK, Prieto F, et al. Genetic heterogeneity of heart-hand syndromes. Circulation 1995;91:1326–9.[Abstract/Free Full Text]

2. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996;33:300–7.[Abstract/Free Full Text]

3. Thomas D, Lascault G, Caille B, Drobinski G, Huberman JP, Shqueir A, et al. Familial forms of interauricular communication of the ostium secundum type. Arch Mal Coeur Vaiss 1985;78:1205–9.[Medline]

4. Lynch HT, Bachenberg K, Harris RE, Becker W. Hereditary atrial septal defect. Update of a large kindred. Am J Dis Child 1978;132:600–4.[Abstract/Free Full Text]

5. Megarbane A, Stephan E, Kassab R, Ashoush R, Salem N, Bouvagnet P, et al. Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder. Am J Med Genet 1999;83: 193–200.[Medline]

6. Weikl A, Rott HD, Lang E. Autosomal dominant hereditary atrial septal defect with heart conduction defects and mitral valve insufficiency. Z Kardiol 1976;65:606–15.[Medline]

7. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108–11.[Abstract/Free Full Text]

This Article Abstract Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Ömer Iik Permission Requests Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Emir, M. Articles by Çiçek, M S. Search for Related Content PubMed Articles by Emir, M. Articles by Çiçek, M S. Related Collections Congenital - acyanotic Electrophysiology - arrhythmias