Heart defects and preterm birth are the most common causes of neonatal and infant death. The long-term development of the heart combined with extensive remodelling and post-natal changes in circulation lead to an abundance of abnormalities associated with this system.
A UK study literature showed that preterm infants have more than twice as many cardiovascular malformations (5.1 / 1000 term infants and 12.5 / 1000 preterm infants) as do infants born at term and that 16% of all infants with cardiovascular malformations are preterm. (0.4% of live births occur at greater than 28 weeks of gestation, 0.9% at 28 to 31 weeks, and 6% at 32 to 36 weeks. Overall, 7.3% of live-born infants are preterm) (Tanner K, Sabrine N, Wren C., 2005) "Baltimore-Washington Infant Study data on live-born cases and controls (1981-1989) was reanalyzed for potential environmental and genetic risk-factor associations in complete atrioventricular septal defects AVSD (n = 213), with separate comparisons to the atrial (n = 75) and the ventricular (n = 32) forms of partial AVSD. ...Maternal diabetes constituted a potentially preventable risk factor for the most severe, complete form of AVSD." (Loffredo CA, etal., 2001).
In addition, there are in several congenital abnormalities that exist in adults (bicuspid aortic valve, mitral valve prolapse, and partial anomalous pulmonary venous connection) which may not be clinically recognized.
Page Links: Introduction | Some Recent Findings | Australian Statistics (1981-1992) | USA Statistics (1997-2003) | Aortic Stenosis | Atrial Septal Defects | Coarctation of Aorta | Dextrocardia | Hypoplastic Left Heart | Long QT Syndrome | Patent Ductus Arteriosus | Pulmonary Atresia | Pulmonary Stenosis | Tetralogy of Fallot | Transposition of Great Vessels | Tricuspid Atresia | Total Anomalous Pulmonary Venous Connection | Ventricular Septal Defect | Abnormalities of Conducting System | Prenatal Diagnosis | Surgery for Congenital Heart Disease | WWW Links | Self Assessment Questions | OMIM Database | Glossary
A recent UK study on the effects of maternal diabetes on development showed "Perinatal mortality and prevalence of congenital anomalies are high in the babies of women with type 1 or type 2 diabetes. The rates do not seem to differ between the two types of diabetes. ....The prevalence of major congenital anomaly was 46/1000 births in women with diabetes (48/1000 births for type 1 diabetes; 43/1000 for type 2 diabetes), congenital heart disease (3.4-fold). (Congenital heart disease was diagnosed antenatally in 23/42 (54.8%) offspring)" Macintosh MC, Fleming KM, Bailey JA, Doyle P, Modder J, Acolet D, Golightly S, Miller A. Perinatal mortality and congenital anomalies in babies of women with type 1 or type 2 diabetes in England, Wales, and Northern Ireland: population based study. BMJ. 2006 Jun 16; (see also Endocrine Notes - Pancreas | Endocrine Notes - Maternal diabetes mellitus)
Tanner K, Sabrine N, Wren C. Cardiovascular malformations among preterm infants. Pediatrics. 2005 Dec;116(6):e833-8.
About Data: Data shown as a % of all Major Abnormalities based upon published statistics using the same groupings as Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352
You can also see: all the statistical data as graphs
List of all Minor Abnormalities
About Data: Heart Defects in the USA state of Utah from (1997-2003) showing rates over time of selected heart defects. (From: Complete Indicator Profile of Birth Defects: Congenital Heart Defects, Utah Department of Health)
Atrial Septal Defects (ASD) are a group of common (1% of cardiac) congenital anomolies defects occuring in a number of different forms and more often in females. Abnormal Development - Heart - Atrial Septal Defects)
Atrial Septal Defect
(Image: Government of Manitoba - Report 2001)
Treatment: The surgical repair requires a cardiopulmonary bypass and is recommended in most cases of ostium secundum ASD, even though there is a significant risk involved. Ostium primum defects tend to present earlier and are often associated with endocardial cushion defects and defective mitral or tricuspid valves. In such cases, valve replacement may be necessary and the extended operation has a considerable chance of mortality.
Increasingly closure by a transcatheter device closure has been applied. (More? Medline Plus - ASD Repair Video)
OMIM Database Entry: Atrial Septal Defect (1999)
References:
Tikkanen J, Heinonen OP. Risk factors for atrial septal defect. Eur J Epidemiol. 1992 Jul;8(4):509-15.
Webb G, Gatzoulis MA. Atrial septal defects in the adult: recent progress and overview. Circulation. 2006 Oct 10;114(15):1645-53.
Search NCBI Bookshelf: Atrial Septal Defect
Search PubMed: Search term = Atrial Septal Defect (Jun06 9,737 Articles and 656 Reviews) atrial+septal+defect[TITL]
Links: The University of Chicago - Pediatric cardiology | National Heart and Lung Institute (UK) | Mayo Clinic (USA) | eMedicine - Atrial Septal Defect, Sinus Venosus | Medline Plus - ASD Repair Video
Patent Ductus Arteriosus (P.D.A.) occurs commonly in preterm infants, can close spontaneously (by day three in 60% of normal term neonates) the remainder are ligated simply and with little risk. The operation is always recommended even in the absence of cardiac failure and can often be deferred until early childhood.
(Image: Government of Manitoba - Report 2001)
OMIM Database Entry: Patent Ductus Arteriosus (1999)
Search NCBI Bookshelf: Patent Ductus Arteriosus
Search PubMed: Search term = Patent Ductus Arteriosus (Jun06 7,465 Articles and 575 Reviews)
Named after Etienne-Louis Arthur Fallot (1888) who described it as "la maladie blue" and is a common developmental cardiac defect. The syndrome consists of a number of a number of cardiac defects possibly stemming from abnormal neural crest migration.
(Image: Government of Manitoba - Report 2001)
Tetralogy of Fallot by definition consists of:
Historic Reference: Fallot, ELA.Contribution à l’anatomie pathologique de la maladie bleue (cyanose cardiaque). Marseille médical, 1888, 25: 77-93, 138-158, 207-223, 341-354, 370-386, 403-420 (More? Etienne-Louis Arthur Fallot | Allwork SP. Tetralogy of Fallot: the centenary of the name. A new translation of the first of Fallot's papers. Eur J Cardiothorac Surg. 1988;2(6):386-92.)
OMIM Database Entry: Tetralogy of Fallot (1999)
Search NCBI Bookshelf: Tetralogy of Fallot
Search PubMed: Search term = Tetralogy of Fallot (Jun06 7,432 Articles and 439 Reviews)
Links: American Heart Association | National Heart, Lung and Blood Institue (USA) | emedicine | Medical College of Wisconsin | American College of Cardiology - Malalignment of the Muscular Outlet Septum
The Ventricular Septal Defect (VSD) usually occurs in the membranous (perimembranous) rather than muscular interventricular septum, and is more frequent in males that females.
Perimembranous defects are located close to the aortic and tricuspid valves and adjacent to atrioventricular conduction bundle.
(Image: Government of Manitoba - Report 2001)
The defect allows left-right shunting of blood, this shunting depends upon the size of the defect. Small defects may close spontaneously, larger defects result in infant congestive heart failure.
International Classification of Diseases code 745.4
Australian national rate (1982-1992) 13 - 18.8/10,000 births.
"VSDs are predominantly sealed by coils or tissue-adapted devices like muscular or perimembranous occluders. Since VSDs may occur with an aneurysm (VSA), a multi-perforated septum, an instable myocardial situation (postinfarction) or a high interventricular pressure gradient, closure of these defects is regarded sometimes as complicated." Hein R, Buscheck F, Fischer E, Leetz M, Bayard MT, Ostermayer S, Reschke M, Lang K, Romer A, Wilson N, Sievert H. Atrial and ventricular septal defects can safely be closed by percutaneous intervention. J Interv Cardiol. 2005 Dec;18(6):515-22.
"Maternal alcohol consumption during the first trimester of pregnancy was more common among the mothers of VSD infants (47.0%) than among those of controls (38.0%, P less than 0.05)." Tikkanen J, Heinonen OP. Risk factors for ventricular septal defect in Finland. Public Health. 1991 Mar;105(2):99-112.
Search NCBI Bookshelf: Ventricular Septal Defect
Search PubMed: Search term = Ventricular Septal Defect (Jun06 11,260 Articles and 546 Reviews)
Characterized by aorta arising from right ventricle and pulmonary artery from the left ventricle and often associated with other cardiac abnormalities (e.g. ventricular septal defect).
(Image: Government of Manitoba - Report 2001)
International Classification of Diseases code 745.1
Australian national rate (1982-1992) 3.6/10,000 births.
Neonates with transposed great arteries die without an arterial switch operation, first carried out in 1975. Murphy DJ Jr. Transposition of the great arteries: long-term outcome and current management. Curr Cardiol Rep. 2005 Jul;7(4):299-304.
Search NCBI Bookshelf: Transposition of Great Vessels
Search PubMed: Search term = Transposition of Great Vessels (Jun06 5,386 Articles and 293 Reviews) | arterial switch operation
Prevalence ranges from 5% to 8% of all congenital heart defects.
(Image: Government of Manitoba - Report 2001)
Search NCBI Bookshelf: Coarctation of Aorta
Search PubMed: Search term = Coarctation of Aorta (Jun06 5,386 Articles and 293 Reviews)
Links: Medlineplus |
Characterized by hypoplasia (underdevelopment or absence) of the left ventricle obstructive valvular and vascular lesion of the left side of the heart.
hypoplastic left heart |
functional hypoplastic left heart |
(Images: Government of Manitoba - Report 2001)
Severe hypoplasia and coarctation of the aorta. The main pulmonary artery is enlarged, and gives rise to a large ductus arteriosus. This allows blood to flow from the right ventricle into the aorta and out to the body. Other characteristics of HLHS often include a combination of aortic and mitral stenosis or aortic and mitral atresia.
International Classification of Diseases code 746.7
Australian national rate (1982-1992) 1.9-3.1/10,000 births.
Search NCBI Bookshelf: Hypoplastic Left Heart
Search PubMed: Search term = Hypoplastic Left Heart (Jun06 1,272 Articles and 115 Reviews)
Links: Province of Manitoba - The Pediatric Cardiac Surgery Inquest Report
Initial malrotation of the heart tube bending left instead of right. Results in heart and greater vessels reversed. Can also occur with situs invertus, where viscera are transposed LR.
Anatomical left-right normal asymmetry is called situs solitus. The alternative heterotaxy can be either randomization (situs ambiguus) or a complete reversal (situs inversus) of normal organ position.
Search NCBI Bookshelf: Dextrocardia
Search PubMed: Search term = Dextrocardia (Jun06 1,857 Articles and 95 Reviews)
Links: Early Embryonic Chick Heart Movie |
(Image: Government of Manitoba - Report 2001)
Search PubMed: Search term = Total Anomalous Pulmonary Venous Connection
(Image: Government of Manitoba - Report 2001)
Search PubMed: Search term = Partial Anomalous Pulmonary Venous Drainage
De-oxygenated blood enters the aorta from the right ventricle and is returned to the body.
(Image: Government of Manitoba - Report 2001)
Blood is shunted through an atrial septal defect to the left atrium and through the ventricular septal defect to the pulmonary artery. The shaded arrows indicate mixing of the blood.
(Image: Government of Manitoba - Report 2001)
Fontan Procedure: a surgical procedure developed by Fontan and Baudet (1971) to restore a circulation in patients with tricuspid atresia.
Search PubMed: Search term = Tricuspid Atresia | Fontan procedure
Abnormal blood flow (as indicated by the shaded blue arrow) is from the right atrium and right ventricle through an atrial septal defect to the left side of the heart. Blood can reach the pulmonary arteries only through a patent ductus arteriosus.
(Image: Government of Manitoba - Report 2001)
Search PubMed: Search term = Pulmonary Atresia
(Image: Government of Manitoba - Report 2001)
Search PubMed: Search term = Aortic Stenosis
(Image: Government of Manitoba - Report 2001)
Search PubMed: Search term = Pulmonary Stenosis
Also variously called the cardiac conduction system (CCS), cardiac pacemaking and conduction system (CPCS), or atrioventricular conduction system (AVCS). Recently animal models (CCS-lacZ transgenic mouse) have helped identify key processes in the development of this specialized conduction system.
"Known arrhythmogenic areas including Bachmann's bundle, the pulmonary veins, and sinus venosus derived internodal structures, demonstrate lacZ expression." (Jongbloed et al, 2004)
Search NCBI Bookshelf: heart+conduction+developmental+abnormalities
Search PubMed: Search term = heart+conduction+developmental+abnormalities (Jun06 53 Articles and 13 Reviews)
Congenital long QT syndrome (LQTS) is a group of rare genetic disorders with prolonged ventricular repolarization and a risk of ventricular tachyarrhythmias. Cause is mutations in genes encoding either cardiac ion channels or channel interacting proteins.
Search NCBI Bookshelf: Congenital long-QT syndrome
Search PubMed: Search term = Congenital long-QT syndrome (Jun06 702 Articles and 204 Reviews)
A recent Chinese study (Li H, etal. 2005) of fetal congenital heart disease (CHD) using fetal echocardiography found:
The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%
The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99.6% using the five transverse planes technique of fetal echocardiography.
Fetuses with mild or moderate disproportion of right and left side in the heart are potentially healthy babies.
See also: Yagel S, Cohen SM, Achiron R. Examination of the fetal heart by five short-axis views: a proposed screening method for comprehensive cardiac evaluation. Ultrasound Obstet Gynecol. 2001 May;17(5):367-9.
Several congenital heart defects have procedures for surgical repair including; Tetralogy of Fallot, Coarctation of the Aorta, Hypoplastic Left Heart Syndrome and Mitral Valve Replacement.
A recent series of supplements in the journal Circulation included a section of research articles on Surgery for Congenital Heart Disease: Volume 110, Issue 11 Supplement; September 14, 2004 | Volume 106, Issue 12 Supplement; September 24, 2002 | Volume 104, Supplement 1; September 18, 2001
1. How are red blood corpuscles formed in the fetus?
2. What are blood islands? How are primitive blood vessels formed?
3. What is the pericardium and how is it formed?
4. Briefly describe the development of the basic heart tube.
5. How is the auricle divided into L and R sides? What is incorporated in the final L atrium and R atrium?
6. How are the pulmonary veins formed?
7. Describe how the truncus arteriosus is divided into the pulmonary and systemic trunks.
8. What tissue forms the ventricular septum? How is the ventricular septum formed?
9. Where are atrial septal defects and ventricular defects found?
10. Define the limits of the foramen ovale.
11. Describe the aortic arches. Which aortic arches remain in the fetus and the adult?
12. What veins develop from the following in the fetus:
(i) Vitelline veins
(ii) Umbilical veins
(iii) Cardinal veins
13. What are the major consequences of P.D.A., A.S.D. and V.S.D. and tetralogy of Fallot on the individual with any of these malformations?
14. Compare and contrast malformations of the CVS which occur inside and outside the heart.
Links: Journals | Online Textbooks | Search Textbooks | Reviews | Articles | 1999 Refs | Search PubMed | Glossary
GeneReviews Editor-in-chief: Pagon, Roberta A. Associate editors: Cassidy, Suzanne B.; Bird, Thomas C.; Feldman, Gerald L.; Smith, Richard J.H.; Dolan, Cynthia R. Technical editor: Baskin, Patricia K. Seattle (WA): University of Washington; 1993-2005 =Congenital+Heart+Defect
Search NLM Bookshelf: Congenital+Heart+Defect
Reviews
Articles
Click on the listed keywords below (used to search the external database) the most current references on Medline will be displayed.
Internet Search OMIM database with the keyword heart or the above abnormality names.
A List of the search results (1997) for "Heart" is available for these computers.NCBI Medline Plus Congenital Heart Disease
National Heart, Lung and Blood Institue (USA) Congenital Heart Disease
Mayo Clinics Common types of congenital heart defects (online slideshow)
Province of Manitoba (Canada) The Pediatric Cardiac Surgery Inquest Report | Pediatric Cardiac Issues How the Heart Functions, Congenital Heart Defect and Their Treatment
American Heart Association Congenital Cardiovascular Defects
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The heart is one of the earliest differentiating and functioning organs.
Most texts will separate heart development from vascular development in order to simplify their descriptions of cardiovascular development, though the 2 are functionally and embryologically connected.
Heart diagrams appearing on this current page are from the Province of Manitoba (Canada) The Pediatric Cardiac Surgery Inquest Report (More? Acknowledgements)
As the embryonic/fetal circulation is different to the neonatal circulation (lung/pulmonary activation), several defects of heart septation may only become apparent on this transition. One septal "defect" occurs in us all, the foramen ovale (between the 2 atria) which in general closes in the neonate over time.
The complexity of septation, cardiac outflow separation, remodelling of the peripheral vasculature, and the pre- to post-natal changes may also contribute to the relatively large proportion of birth defects associated with this system.
The molecular mechanisms regulating cardiac development are still largely unknown. Development does appear to be an independent mechanism preceding both skeletal and smooth muscle development and using different regulatory mechanisms (not MyoD or myogenin).
Information on this page is provided for Educational Purposes Only.
Please email Dr Mark Hill if you wish to make a comment about this current project.
