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Encyclopedia > Congenital heart defect
Congenital heart defect
Classification & external resources
ICD-10 Q20.-Q26.
ICD-9 745-747
DiseasesDB 17017
MeSH D006330

A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels of a newborn. Most heart defects either obstruct blood flow in the heart or vessels near it or cause blood to flow through the heart in an abnormal pattern, although other defects affecting heart rhythm (such as long QT syndrome) can also occur. Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... The heart and lungs, from an older edition of Grays Anatomy. ... Great vessels is a term used to refer collectively to the primary blood vessels, which include: Vena cavae Superior vena cava Inferior vena cava Pulmonary artery Pulmonary trunk Right pulmonary artery Left pulmonary artery Pulmonary veins Right superior Right inferior Left superior Left inferior Aorta Category: ... A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ... Blood flow is the flow of blood in the cardiovascular system. ... f you all The blood vessels are part of the circulatory system and function to transport blood throughout the body. ... For transport in plants, see Vascular tissue. ... The long QT syndrome (LQTS) is a heart disease in which there is an abnormally long delay between the electrical excitation (or depolarization) and relaxation (repolarization) of the ventricles of the heart. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ...

Contents

Overview

Congenital heart defects can be broadly categorised into two groups, acyanotic heart defects ("pink" babies) and cyanotic heart defects ("blue" babies). An acyanotic heart defect is any heart defect of a group of structural congenital heart defects, comprising approximately 75% of all congenital heart defects. ... A cyanotic heart defect is a congenital heart defect. ...


Epidemiology

Affecting approximately one in every 125 babies born, congenital heart defects are the most common birth defect (March of Dimes). Forty thousand people are born each year with a CHD; 4,000 will not survive their first year(The Children's Heart Foundation). Twice as many children die each year from a CHD than all forms of Pediatric Cancers combined (The Children's Heart Foundation). The eight most common defects account for 80% of all congenital heart diseases, while the remaining 20% consist of many independently infrequent conditions or combinations of several defects. Ventricular septal defect (VSD) is generally considered to be the most common type of malformation, accounting for about 1/3 of all congenital heart defects. Image File history File links Question_book-3. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ...


The incidence is higher when a parent or a sibling has a heart defect (4–5%), in stillborns (3–4%), abortuses (10–25%), and premature infants (2%). A stillbirth occurs when a fetus which has died in the uterus or during labour or delivery exits a womans body. ... Premature birth (also known as preterm birth) is defined medically as childbirth occurring earlier than 37 completed weeks of gestation. ...


The number of adults with problems connected to a congenital heart defect is rising, passing the number of children with congenital heart defects in most Western countries. This group is referred to as grown-up congenital heart disease (GUCH) patients. GUCH is an acronym for Grown Ups with Congenital Heart defects. ...


Twice as many children die from a CHD than from all forms of pediatric cancers combined.


Etiology

The cause of most congenital heart defects is unknown.


Where a cause is known, it may be of a multifactorial origin and/or a result of genetic predisposition and environmental factors. A genetic predisposition is a genetic effect which influences the phenotype of an organism but which can be modified by the environmental conditions. ...


Known genetic causes of heart disease includes chromosomal abnormalities such as trisomies 21, 13, and 18, as well as a range of newly recognised genetic point mutations, point deletions and other genetic abnormalities as seen in syndromes such as CATCH 22, familial ASD with heart block, Alagille syndrome, Noonan syndrome, and many more. A trisomy means the presence of three (instead of the normal two) chromosomes of a particular numbered type in an organism. ... Down syndrome or trisomy 21 (usually Downs Syndrome in British English[1]) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. ... Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13. ... Trisomy 18 or Edwards Syndrome (named after John H. Edwards) is a genetic disorder. ... A point mutation, or substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. ... Deletion on a chromosome In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is missing. ... This article needs to be cleaned up to conform to a higher standard of quality. ... Alagille syndrome is a genetic disorder that affects the liver, heart, and other systems of the body. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ...


Known antenatal environmental factors include maternal infections (Rubella), drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus). This article needs cleanup. ... An infection is the detrimental colonization of a host organism by a foreign species. ... Rubella, commonly known as German measles, is a disease caused by the rubella virus. ... This article does not cite any references or sources. ... Alcoholic beverages An alcoholic beverage is a drink containing ethanol, commonly known as alcohol, although in chemistry the definition of alcohol includes many other compounds. ... Hydantoin, which is also known as glycolylurea, is a heterocyclic organic compound which can be thought of as a cyclic double-condensation reaction product of glycolic acid and urea. ... This article is about the chemical element named Lithium. ... This article is about the drug. ... For the disease characterized by excretion of large amounts of very dilute urine, see diabetes insipidus. ... Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ...


Relation of congenital heart defects with sex

According to "Teratological rule of sexual dimorphism" (V. Geodakian, 1970), inborn anomalies that have atavistic nature appear more frequently among females, and futuristic anomalies appear among males. This rule was applied to explain differences in sex ratio observed for congenital heart defects.[1][2]


In the 32,000 diagnoses of "female" malformations, those relating to the heart of the embryo and to the phylogenetic human predecessors predominated (Table). The most well-defined female's defects are patent ductus arteriosus (1♂♂ : 2.72♀♀), Lutembacher disease (1♂♂ : 2.1♀♀), and ostium secundum (1♂♂ : 1.84♀♀).

Sex ratio of patients with congenital heart defects
Congenital heart defect Sex ratio, males:females
Patent ductus arteriosus 1 : 2.72
Lutembaher disease 1 : 2.14
Ostium secundum 1 : 1.84
Ventricular septal defect and patent ductus arteriosus 1 : 1.51
Fallot's triad 1 : 1.45
Eisenmenger's complex 1 : 1.40
Partial atrioventricular canal 1 : 1.36
Ostium primum 1 : 1.20
Partial anomalous pulmonary venous connection 1 : 1.19
Ventricular septal defect 1 : 1.02
Potts and Waterston-Cooley shunts 1 : 1.01
Atrioventricular canal 1 : 1.01
Ebstein's anomaly 1.02 : 1
Stenosis of lung artery 1.04 : 1
Tricuspid atresia 1.16 : 1
Truncus arteriosus 1.21 : 1
Tetralogy of Fallot 1.35 : 1
Coarctation of aorta and an open arterial channel 1.37 : 1
Total anomalous pulmonary venous connection 1.39 : 1
Transposition of the great arteries 1.90 : 1
Coarctation of the aorta 2.14 : 1
Aortic stenosis 2.66 : 1

Most well-defined "male" congenital heart defects are: aortic stenosis (2.66♂♂ : 1♀♀), coarctation of the aorta (2.14♂♂ : 1♀♀), transpositions of the great arteries (1.90♂♂ : 1♀♀), a total anomalous pulmonary venous connection (1.39♂♂ : 1♀♀), and coarctation of aorta with an open arterial channel (1.37♂♂ : 1♀♀). None of the male's components of congenital heart defects have a corresponding similar formation at normal embryo or at phylogenetic predecessors of the humans. They can be considered as unsuccessful tests of the evolution process.


Other congenital heart defects are of a neutral type. The frequency of occurrence is about the same for both sexes. Among them it is also possible to allocate simple (Potts/Waterston-Cooley shunt and ostium primum) and complex (partial and full atrioventricular canal, Ebstain's anomaly and tricuspid atresia) defects. Simple defects of this group, as well as female defects, can be considered atavistic. The difference between them is that these defects, contrary to female ones, represent a return to the far past in the onthogenetic and phylogenetic sense. They can be considered as a consequence of a block in heart development at early stages of embriogenesis (the first 2-3 months of the embryo's life during which the anatomic formation of the heart occurs), and at earlier (in comparison to female defects) stages of phylogenesis. For complex defects of the neutral group, the sex ratio depends on which of their components prevail—female or male.


Rokitansky (1875) explained congenital heart defects as breaks in heart development at various ontogenesis stages.[3] Spitzer (1923) treats them as returns to one of the phylogenesis stages.[4] Krimsky (1963), synthesizing two previous points of view, considered congenital heart diseases as a stop of development at a certain stage of ontogenesis, corresponding to this or that stage of the phylogenesis.[5] Hence these theories can explain atavistic heart diseases only (feminine and neutral, according to our classification), and no explanation has been found for masculine defects.


The concept allows considering sex of the patient as a diagnostic symptom. This symptom is stable and cheap and does not harm the patient compared to some invasive diagnostic procedures.


Major categories

Patent ductus arteriosus

The ductus arteriosus is a temporary pathway in the foetal heart between the pulmonary artery and aorta, which allows blood to bypass the fetus's nonfunctioning lungs until birth. Normally, the ductus closes within a few hours or days of birth; when it does not, the result is patent ductus arteriosus. This defect is common in premature infants but rare in full-term infants. Patent ductus arteriosus (PDA) is a congenital heart defect wherein a childs ductus arteriosus fails to close after birth. ... In the developing fetus, the ductus arteriosus (DA) is a shunt connecting the pulmonary artery to the aortic arch that allows much of the blood from the right ventricle to bypass the fetus fluid-filled lungs. ... For other uses, see Fetus (disambiguation). ... The pulmonary arteries carry blood from the heart to the lungs. ... The aorta (generally pronounced [eɪˈɔːtə] or ay-orta) is the largest artery in the human body, originating from the left ventricle of the heart and bringing oxygenated blood to all parts of the body in the systemic circulation. ... In most systems of human pregnancy, the condition, premature birth (also known as a preterm birth), occurs when the baby is born within sooner than 36 weeks of completed gestation. ...


Hypoplasia

Hypoplasia can affect the heart, which typically results in the failure of either the right ventricle or the left ventricle to develop adequately, leaving only one side of the heart capable of pumping blood to the body and lungs. Hypoplasia of the heart is rare but is the most serious form of CHD; it is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome when it affects the right side of the heart. In both conditions, the presence of a patent ductus arteriosus (and, when hypoplasia affects the right side of the heart, a patent foramen ovale) is vital to the infant's ability to survive until emergency heart surgery can be performed, since without these pathways blood cannot circulate to the body (or lungs, depending on which side of the heart is defective). Hypoplasia of the heart is generally a cyanotic heart defect. Hypoplastic left heart syndrome (also known as HLHS), is a rare birth defect in which the left side of the heart is severely underdeveloped. ... Hypoplasia is an incomplete or arrested development of an organ or a part [1]. It is descriptive of many medical conditions such as: Underdeveloped breasts during puberty. ... The right ventricle is one of four chambers (two atria and two ventricles) in the human heart. ... In the heart, a ventricle is a chamber which collects blood from an atrium (another heart chamber) and pumps it out of the heart. ... Human respiratory system The lungs flank the heart and great vessels in the chest cavity. ... Hypoplastic left heart syndrome (also known as HLHS), is a rare birth defect in which the left side of the heart is severely underdeveloped. ... Patent ductus arteriosus (PDA) is a congenital heart defect wherein a childs ductus arteriosus fails to close after birth. ... An atrial septal defect (ASD) is a group of congenital heart diseases that involve the inter-atrial septum of the heart. ... A cyanotic heart defect is a congenital heart defect. ...


Obstruction defects

Obstruction defects occur when heart valves, arteries, or veins are abnormally narrow or blocked. Common obstruction defects include pulmonary valve stenosis, aortic valve stenosis, and coarctation of the aorta, with other types such as bicuspid aortic valve stenosis and subaortic stenosis being comparatively rare. Any narrowing or blockage can cause heart enlargement or hypertension. A stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure. ... Atresia is a condition in which a body orifice or passage in the body is abnormally closed or absent. ... Pulmonary valve stenosis is a medical condition in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. ... Aortic valve stenosis (AS) is a heart condition caused by the incomplete opening of the aortic valve. ... Sketch showing heart with coarctation of the aorta. ... For other forms of hypertension, see Hypertension (disambiguation). ...


Septal defects

The septum is a wall of tissue which separates the left heart from the right heart. It is comparatively common for defects to exist in the interatrial septum or the interventricular septum, allowing blood to flow from the left side of the heart to the right, reducing the heart's efficiency. Ventricular septal defects are collectively the most common type of CHD, although approximately 30% of adults have a type of atrial septal defect called patent foramen ovale. Septal defects may or may not cause cyanosis depending on the severity of the defect. Left heart is a term used to refer collectively to the left atrium and left ventricle of the heart. ... Right heart is a term used to refer collectively to the right atrium and right ventricle of the heart. ... The interatrial septum is the wall of tissue that separates the right and left atria of the heart. ... Interventricular septum (or ventricular septum, or during development septum inferius) is the stout wall separating the lower chambers (the ventricles) of the heart from one another. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ... Atrial septal defects (ASD) are a group of congenital heart diseases that enables communication between atria of the heart and may involve the interatrial septum. ... An atrial septal defect (ASD) is a group of congenital heart diseases that involve the inter-atrial septum of the heart. ... Cyanosis refers to the bluish coloration of the skin due to the presence of deoxygenated hemoglobin in blood vessels near the skin surface. ...


Cyanotic defects

Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration of the skin due to a lack of oxygen in the body. Such defects include persistent truncus arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot, transposition of the great vessels, and tricuspid atresia. A cyanotic heart defect is a congenital heart defect. ... Cyanosis refers to the bluish coloration of the skin due to the presence of deoxygenated hemoglobin in blood vessels near the skin surface. ... General Name, symbol, number oxygen, O, 8 Chemical series nonmetals, chalcogens Group, period, block 16, 2, p Appearance colorless (gas) pale blue (liquid) Standard atomic weight 15. ... Persistent truncus arteriosus (or Truncus arteriosus) is a rare form of congenital heart disease that presents at birth. ... This is a rare congenital heart disease in which the pulmonary venous return is directed to the right atrium though venous channels. ... The tetralogy of Fallot is a congenital heart defect which classically has four anatomical components. ... Transposition of the great vessels (TGV) is a group of congenital heart defects (CHDs) involving an abnormal spatial arrangement of any of the primary vessels: superior and/or inferior vena cavae (SVC, IVC), pulmonary artery, pulmonary veins, and aorta. ... Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. ...


Other defects

Ebsteins anomaly is a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. ... The Brugada syndrome is a genetic disease that is manifest by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. ... Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue characterized by disproportionately long limbs, long thin fingers, a typically tall stature, and a predisposition to cardiovascular abnormalities, specifically those affecting the heart valves and aorta. ... 22q11. ...

Signs and Symptoms

Symptoms and signs are related to the type and severity of the heart defect. Some children have no signs while others may exhibit shortness of breath, cyanosis, chest pain, syncope, sweating, heart murmur, respiratory infections, underdeveloping of limbs and muscles, poor feeding, or poor growth. Most defects cause a whispering sound, or murmur, as blood moves through the heart causing some of these symptoms. All of these symptoms occur at a young age of a child or infant and are typically found during a physical examination. Murmurs are abnormal heart sounds that are produced as a result of turbulent blood flow which is sufficient to produce audible noise. ...


Treatment

Sometimes CHD improves with no treatment necessary. At other times the defect is so small and does not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the baby in eliminating water, salts, and digoxin and in strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to repair as much as possible to restore circulation back to normal. In some cases, multiple surgeries are needed to be performed to help balance the circulation. Interventional cardiology now offers patients minimally invasive alternatives to surgery. Device closures can now be treated with a standard transcatheter procedure using a closure device mounted on a balloon catheter.


Defects

Revisions and sourced additions are welcome.

Aortic valve stenosis (AS) is a heart condition caused by the incomplete opening of the aortic valve. ... Atrial septal defects (ASD) are a group of congenital heart diseases that enables communication between atria of the heart and may involve the interatrial septum. ... Atrioventricular septal defect (AVSD) is characterized by a deficiency of the atrioventricular septum of the heart. ... Aortic coarctation is narrowing of the aorta in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts. ... Dextrocardia refers to the heart being situated on the right side of the body. ... Ebsteins anomaly is a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. ... Hypoplastic left heart syndrome (also known as HLHS), is a rare birth defect in which the left side of the heart is severely underdeveloped. ... levo-Transposition of the great arteries (l-Transposition of the great arteries, levo-TGA, or l-TGA), also commonly referred to as congenitally corrected transposition of the great arteries (CC-TGA), is an acyanotic congenital heart defect (CHD) in which the primary arteries (the aorta and the pulmonary artery) are... Patent ductus arteriosus (PDA) is a congenital heart defect wherein a childs ductus arteriosus fails to close after birth. ... Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. ... Pulmonary stenosis is a congenital medical condition in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. ... The tetralogy of Fallot is a congenital heart defect which classically has four anatomical components. ... This is a rare congenital heart disease in which the pulmonary venous return is directed to the right atrium though venous channels. ... The correct title of this article is . ... Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. ... Truncus arteriosus is a rare form of congenital heart disease that presents at birth. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ...

References

  1. ^ Geodakyan V. A., Sherman A. L. (1970). “Eksperimental’naja hirurgija i anesteziologija (Experimental surgery and anesthesiology) ” 32 N 2, 18–23.
  2. ^ Geodakian VA, Sherman AL (1971). "[Relation of congenital anomalies to sex]" (in Russian). Zh. Obshch. Biol. 32 (4): 417-24. PMID 5146394. 
  3. ^ Rokitarisky K. E. (1875) Die defecte der Scheidewande des Herzens. Wien.
  4. ^ Spitzer A. (1923) Arch. Pathol. Anat. 243, 81–272.
  5. ^ Krimski L. D. (1963) Pathological anatomy of congenital heart defects and complications after their surgical treatment. M., Medicine.

External links


  Results from FactBites:
 
Congenital Heart Defects in Children Fact Sheet (651 words)
Congenital heart defects are structural problems with the heart present at birth.
Defects range in severity from simple problems, such as "holes" between chambers of the heart, to very severe malformations, such as complete absence of one or more chambers or valves.
Congenital heart defects are the most common birth defect and are the number one cause of death from birth defects during the first year of life.
Congenital Heart Defects (1891 words)
Congenital heart defects are abnormalities in the heart's structure that are present at birth.
Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy.
Because congenital defects often compromise the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs in your child.
  More results at FactBites »

 
 

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