Cardiovascular System - Abnormalities
Embryology - 3 Jun 2024 Expand to Translate |
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Introduction
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)[1]
"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." [2]
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.
Developmental abnormalities of the cardiovascular system are classified under ICD-10 as "Congenital malformations of the circulatory system (Q20-Q28)". Note that the updated release of this coding system (ICD-11) will include a coding based upon the International Pediatric Cardiac Code.[3][4]
Heart Abnormal: Tutorial Abnormalities | atrial septal defects | double outlet right ventricle | hypoplastic left heart | patent ductus arteriosus | transposition of the great vessels | Tetralogy of Fallot | ventricular septal defects | coarctation of the aorta | Category ASD | Category PDA | Category ToF | Category VSD | ICD10 - Cardiovascular | ICD11 |
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Cardiovascular Abnormality <pubmed limit=5>Cardiovascular Abnormality</pubmed> |
International Classification of Diseases (ICD10)
The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. This includes the analysis of the general health situation of population groups. It is used to monitor the incidence and prevalence of diseases and other health problems. Within this classification "congenital malformations, deformations and chromosomal abnormalities" are (Q00-Q99) but excludes "inborn errors of metabolism" (E70-E90).
Congenital malformations of the circulatory system (Q20-Q28) can be viewed in the collapsed table below. Note that the updated release of this coding system (ICD-11) will include a coding based upon the International Paediatric and Congenital Cardiac Code International Pediatric Cardiac Code. This system was initiated in 2005 by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD).[3][4]
ICD10 Congenital malformations of the circulatory system (Q20-Q28) |
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Cardiovascular System - Abnormalities |
Q20 Congenital malformations of cardiac chambers and connections
Excl.: dextrocardia with situs inversus (Q89.3) mirror-image atrial arrangement with situs inversus (Q89.3)
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Q21 Congenital malformations of cardiac septa
Excl.: acquired cardiac septal defect (I51.0)
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Q22 Congenital malformations of pulmonary and tricuspid valves
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Q23 Congenital malformations of aortic and mitral valves
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Q24 Other congenital malformations of heart
Excl.: endocardial fibroelastosis (I42.4)
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Q25 Congenital malformations of great arteries
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Q26 Congenital malformations of great veins
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Q27 Other congenital malformations of peripheral vascular system
Excl.: anomalies of: cerebral and precerebral vessels (Q28.0-Q28.3) coronary vessels (Q24.5) pulmonary artery (Q25.5-Q25.7) congenital retinal aneurysm (Q14.1) haemangioma and lymphangioma (D18.-)
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Q28 Other congenital malformations of circulatory system
Excl.: congenital aneurysm: NOS (Q27.8) coronary (Q24.5) peripheral (Q27.8) pulmonary (Q25.7) retinal (Q14.1) ruptured: cerebral arteriovenous malformation (I60.8) malformation of precerebral vessels (I72.-)
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ICD-10 |
See also ICD-10 Chapter XVI Certain conditions originating in the perinatal period (P00-P96) P29 Cardiovascular disorders originating in the perinatal period.
Excl.: congenital malformations of the circulatory system (Q20-Q28)
- P29.0 Neonatal cardiac failure
- P29.1 Neonatal cardiac dysrhythmia
- P29.2 Neonatal hypertension
- P29.3 Persistent fetal circulation Delayed closure of ductus arteriosus Pulmonary hypertension of newborn (persistent)
- P29.4 Transient myocardial ischaemia of newborn
- P29.8 Other cardiovascular disorders originating in the perinatal period
- P29.9 Cardiovascular disorder originating in the perinatal period, unspecified
- Links: Neonatal Development | International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD)
Heart Abnormalities
Ventricular Septal Defect
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. ICD-10 Q21.0 Ventricular septal defect
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Atrial Septal Defects
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.
ICD-10 Q21.1 Atrial septal defect Coronary sinus defect Patent or persistent: foramen ovale ostium secundum defect (type II) Sinus venosus defect 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.
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Patent Ductus Arteriosus
Patent ductus arteriosus (PDA), or Patent arterial duct (PAD), or common truncus, occurs commonly in preterm infants, and at approximately 1 in 2000 full term infants and more common in females (to male ratio is 2:1). Can also be associated with specific genetic defects, trisomy 21 and trisomy 18, and the Rubinstein-Taybi and CHARGE syndromes. The opening is asymptomatic when the duct is small and can close spontaneously (by day three in 60% of normal term neonates), the remainder are ligated simply and with little risk, with transcatheter closure of the duct generally indicated in older children. The operation is always recommended even in the absence of cardiac failure and can often be deferred until early childhood.
ICD-10 Q25.0 Patent ductus arteriosus Patent ductus Botallo Persistent ductus arteriosus
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Tetralogy of Fallot
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.
ICD-10 Q21.3 Tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle.
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Hypoplastic Left Heart
Characterized by hypoplasia (underdevelopment or absence) of the left ventricle obstructive valvular and vascular lesion of the left side of the heart.
ICD-10 Q23.4 Hypoplastic left heart syndrome Atresia, or marked hypoplasia of aortic orifice or valve, with hypoplasia of ascending aorta and defective develop-ment of left ventricle (with mitral valve stenosis or atresia).
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Double Outlet Right Ventricle
De-oxygenated blood enters the aorta from the right ventricle and is returned to the body. ICD-10 Q20.1 Double outlet right ventricle Taussig-Bing syndrome
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Tricuspid Atresia
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.
ICD-10 Q22.4 Congenital tricuspid stenosis Tricuspid atresia Fontan Procedure: a surgical procedure developed by Fontan and Baudet (1971) to restore a circulation in patients with tricuspid atresia.
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Dextrocardia
Dextrocardia anatomical heart position[9] | Dextrocardia (postnatal 1 year old)[9] |
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.
Abnormalities of Conducting System
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)
Long QT Syndrome
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
- Links: Search PubMed
Heart Vessel Abnormalities
Transposition of the Great Vessels
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).
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Coarctation of the Aorta
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Interrupted Aortic Arch
- LInks: Search PubMed
Pulmonary Atresia
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Total Anomalous Pulmonary Venous Connection
Total Anomalous Pulmonary Venous Connection (TAPVC) or Total Anomalous Pulmonary Venous Return (TAPVR) occurs when pulmonary veins connect to the right atrium (RA) and not the left atrium (LA). This abnormal connection returns oxygenated pulmonary blood from the lungs back to the right atrium or a vein flowing into the right atrium.
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Complete Atrioventricular Canal
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Partial Anomalous Pulmonary Venous Drainage
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Aortic Stenosis
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Pulmonary Stenosis
ICD-10 Q25.6 Stenosis of pulmonary artery Supravalvular pulmonary stenosis
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Blood Disorders
Sickle Cell Anemia
People who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. This is commonly called “sickle cell anemia”, and is usually the most severe form of the disease. The name comes from the "sickle" shape of the RBC compared to the normal "donut" shape.
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Sickle cell RBC (Image CDC) |
Thalassemia
Thalassemia is a group of inherited (genetic) blood disorders most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The most severe form of alpha thalassemia, affecting mainly people of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death.
The two main types of thalassemia are called "alpha" and "beta," depending on which part of an oxygen-carrying protein in the red blood cells is lacking. Both types of thalassemia are inherited in the same manner. A child who inherits one mutated gene is a carrier, which is sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.
Statistics
Australia
Data shown as a percentage 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.
Belgium
Congenital heart disease in 111 225 births in Belgium 2008 study[11]:
- 921 children with congenital heart disease (birth prevalence of 8.3 per 1000).
- 33% ventricular septal defects most frequently occurring condition
- 18% ostium secundum atrial septal defects
- 10% pulmonary valve abnormalities
- 39% had either cardiosurgical operation or catheter intervention.
- 4% of the children died (higher in univentricular physiology, pulmonary atresia with VSD, left ventricle outflow obstruction and tetralogy of Fallot).
South America
Paediatric and congenital heart disease in South America: an overview.[12]
- Ventricular septal defects - Surgical mortality with repair in infancy, mainly in the muscular septum, probably slightly higher in South America than in North America and Europe.
- Secundum atrial septal defects - trans-catheter closure is the preferred method of treating most patients.
- Pulmonary valve stenosis and atresia with intact ventricular septum - balloon pulmonary valvuloplasty for PVS.
- Aortic stenosis - balloon valvuloplasty.
- Coarctation of the aorta - children balloon angioplasty, adolescents and adults a trend towards the use of bare and covered stents.
- Tetralogy of Fallot - patients with severe hypoxaemia have a modified Blalock–Taussig shunt.
USA
"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." [2]
References
- ↑ <pubmed>16322141</pubmed>
- ↑ 2.0 2.1 <pubmed>11241431</pubmed>
- ↑ 3.0 3.1 <pubmed>19063777</pubmed>
- ↑ 4.0 4.1 <pubmed>23804886</pubmed>
- ↑ <pubmed>27893754</pubmed>
- ↑ <pubmed>27312802</pubmed>
- ↑ <pubmed>21517965</pubmed>
- ↑ <pubmed>19876418</pubmed>
- ↑ 9.0 9.1 <pubmed>19142355</pubmed>| Arq Bras Cardiol.
- ↑ <pubmed>21947983</pubmed>| PDF
- ↑ <pubmed>19046347 </pubmed>
- ↑ <pubmed>19174420</pubmed>
Articles
<pubmed>17967198</pubmed>
Search Pubmed
Search Pubmed: Cardiovascular System Abnormalities
5 Most Recent
Note - This sub-heading shows an automated computer PubMed search using the listed sub-heading term. References appear in this list based upon the date of the actual page viewing. Therefore the list of references do not reflect any editorial selection of material based on content or relevance. In comparison, references listed on the content page and discussion page (under the publication year sub-headings) do include editorial selection based upon relevance and availability. (More? Pubmed Most Recent)
Ventricular Septal Defect
<pubmed limit=5>Ventricular+Septal+Defect</pubmed>
Atrial Septal Defect
<pubmed limit=5>Atrial+Septal+Defect</pubmed>
Patent Ductus Arteriosus
<pubmed limit=5>Patent+Ductus+Arteriosus</pubmed>
Tetralogy of Fallot
<pubmed limit=5>Tetralogy+of+Fallot</pubmed>
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Cite this page: Hill, M.A. (2024, June 3) Embryology Cardiovascular System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Cardiovascular_System_-_Abnormalities
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G