Congenital heart defect
Congenital heart defect | |
---|---|
Other names | Congenital heart anomaly, congenital heart disease |
Prognosis | Generally good (with treatment)[7] |
Frequency | 48.9 million (2015)[8] |
Deaths | 303,300 (2015)[9] |
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth.[7] A congenital heart defect is classed as a cardiovascular disease.[10] Signs and symptoms depend on the specific type of defect.[3] Symptoms can vary from none to life-threatening.[7] When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired.[2] CHD does not cause chest pain.[2] Most congenital heart defects are not associated with other diseases.[3] A complication of CHD is heart failure.[2]
Congenital heart defects are the most common birth defect.[3][11] In 2015, they were present in 48.9 million people globally.[8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.[3][12] In about 6 to 19 per 1,000 they cause a moderate to severe degree of problems.[12] Congenital heart defects are the leading cause of birth defect-related deaths:[3] in 2015, they resulted in 303,300 deaths, down from 366,000 deaths in 1990.[9][13]
The cause of a congenital heart defect is often unknown.
Congenital heart defects are partly preventable through
Signs and symptoms
Signs and symptoms are related to type and severity of the heart defect. Symptoms frequently present early in life, but it is possible for some CHDs to go undetected throughout life.[14] Some children have no signs while others may exhibit shortness of breath, cyanosis, fainting,[15] heart murmur, under-development of limbs and muscles, poor feeding or growth, or respiratory infections. Congenital heart defects cause abnormal heart structure resulting in production of certain sounds called heart murmur. These can sometimes be detected by auscultation; however, not all heart murmurs are caused by congenital heart defects.[citation needed]
Associated conditions
Congenital heart defects are associated with an increased incidence of seven other specific medical conditions, together being called the VACTERL association:[citation needed]
- V — Vertebral anomalies
- A — Anal atresia
- C — Cardiovascular anomalies
- T — Tracheoesophageal fistula
- E — Esophageal atresia
- R — Renal (Kidney) and/or radial anomalies
- L — Limb defects
Ventricular septal defect (VSD), atrial septal defects, and tetralogy of Fallot are the most common congenital heart defects seen in the VACTERL association. Less common defects in the association are truncus arteriosus and transposition of the great arteries.[citation needed]
Causes
The cause of congenital heart disease may be genetic, environmental, or a combination of both.[16]
Genetic
Genetic lesions | Attributable percent | Examples | Primary genetic testing method |
---|---|---|---|
Aneuploidies
|
5–8%[16] | Survivable autosomal trisomies (chromosomes | Karyotyping |
Copy number variants | 10–12%[18] | 22q11.2 deletion/duplication (velocardiofacial/DiGeorge syndrome), 1q21.1 deletion/duplication, 8p23.1 deletion/duplication, 15q11.2 deletion (Burnside-Butler syndrome) | Array comparative genomic hybridization (also known as chromosomal microarray analysis)
|
Inherited protein-coding single nucleotide variant (SNV) or small insertion/deletion (indel)
|
3–5%[19] | Holt–Oram syndrome, Noonan syndrome, Alagille syndrome | Gene panel |
De novo protein-coding SNV or indel | ~10%[20][17] | Mutations in genes highly expressed during heart development | Whole exome sequencing
|
Molecular pathways
The genes regulating the complex developmental sequence have only been partly elucidated. Some genes are associated with specific defects. A number of genes have been associated with cardiac manifestations. Mutations of a heart muscle protein, α-myosin heavy chain (
MYH6 | GATA4 | NKX2-5 | TBX5 | TBX1 | |
---|---|---|---|---|---|
Locus | 14q11.2-q13 | 8p23.1-p22 | 5q34 | 12q24.1 | 22q11.2 |
Syndrome | Holt–Oram | DiGeorge | |||
Atrial septal defects | ✔ | ✔ | ✔ | ✔ | |
Ventricular septal defects | ✔ | ✔ | ✔ | ||
Electrical conduction abnormalities | ✔ | ✔ | |||
Outflow tract abnormalities | ✔ | ||||
Non-cardiac manifestations[24] | Upper limb abnormalities | Small or absent thymus Small or absent parathyroids Facial abnormalities |
The
Mutations of a cell regulatory mechanism, the
Environmental
Known environmental factors include certain
Being
Mechanism
There is a complex sequence of events that result in a well formed heart at birth and disruption of any portion may result in a defect.[28] The orderly timing of cell growth, cell migration, and programmed cell death ("apoptosis") has been studied extensively and the genes that control the process are being elucidated.[23] Around day 15 of development, the cells that will become the heart exist in two horseshoe shaped bands of the middle tissue layer (
At day 22, the circulatory system is bilaterally symmetrical with paired vessels on each side and the heart consisting of a simple tube located in the midline of the body layout. The portions that will become the atria and will be located closest to the head are the most distant from the head. From days 23 through 28, the heart tube folds and twists, with the future ventricles moving left of center (the ultimate location of the heart) and the atria moving towards the head.[33]
On day 28, areas of tissue in the heart tube begin to expand inwards; after about two weeks, these expansions, the membranous "
Changes at birth
The ductus arteriosus stays open because of circulating factors including
Theories
Rokitansky (1875) explained congenital heart defects as breaks in heart development at various
Diagnosis
Many congenital heart defects can be
If a baby is born with cyanotic heart disease, the diagnosis is usually made shortly after birth due to the blue colour of their skin (called cyanosis).[38]
If a baby is born with a septal defect or an obstruction defect, often their symptoms are only noticeable after several months or sometimes even after many years.[38]
Classification
A number of classification systems exist for congenital heart defects. In 2000 the International Congenital Heart Surgery Nomenclature was developed to provide a generic classification system.[39]
Hypoplasia
Obstructive defects
Obstructive defects occur when heart valves, arteries, or veins are
Septal defects
The septum is a wall of tissue which separates the
Cyanotic defects
Defects
- Aortic stenosis
- Arrhythmogenic right ventricular cardiomyopathy
- Atrial septal defect (ASD)
- Atrioventricular septal defect (AVSD)
- Bicuspid aortic valve
- Cardiomyopathy
- Complete heart block(CHB)
- Dextrocardia
- Double inlet left ventricle (DILV)
- Double outlet right ventricle (DORV)
- Ebstein's anomaly
- Early Repolarization Syndrome
- Holmes heart
- Hypoplastic left heart syndrome (HLHS)
- Hypoplastic right heart syndrome (HRHS)
- Mitral stenosis
- Myocardial bridge
- Persistent truncus arteriosus
- Pulmonary atresia
- Pulmonary stenosis
- Rhabdomyomas(Tumors of the Heart)
- Transposition of the great vessels
- Tricuspid atresia
- Ventricular septal defect (VSD)
- Wolff–Parkinson–White syndrome (WPW)
Some conditions affect the great vessels or other vessels in close proximity to the heart, but not the heart itself, but are often classified as congenital heart defects.[citation needed]
- Coarctation of the aorta (CoA)
- Double aortic arch, aberrant subclavian artery, and other malformations of the great arteries
- Interrupted aortic arch (IAA)
- Patent ductus arteriosus (PDA)
- Scimitar syndrome (SS)
- Partial anomalous pulmonary venous connection(PAPVC)
- Total anomalous pulmonary venous connection(TAPVC)
Some constellations of multiple defects are commonly found together.[citation needed]
- Tetralogy of Fallot (ToF)
- Pentalogy of Cantrell
- Shone's syndrome/ Shone's complex / Shone's anomaly
Treatment
CHD may require surgery and medications. Medications include diuretics, which aid the body in eliminating water, salts, and digoxin for strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to restore circulation back to normal and in some cases, multiple surgeries are needed.[citation needed]
Interventional cardiology now offers minimally invasive alternatives to surgery for some patients. The Melody Transcatheter Pulmonary Valve (TPV), approved in Europe in 2006 and in the U.S. in 2010 under a Humanitarian Device Exemption (HDE), is designed to treat congenital heart disease patients with a dysfunctional conduit in their right ventricular outflow tract (RVOT). The RVOT is the connection between the heart and lungs; once blood reaches the lungs, it is enriched with oxygen before being pumped to the rest of the body. Transcatheter pulmonary valve technology provides a less-invasive means to extend the life of a failed RVOT conduit and is designed to allow physicians to deliver a replacement pulmonary valve via a catheter through the patient's blood vessels.[citation needed]
Many people require lifelong specialized cardiac care, first with a pediatric cardiologist and later with an adult congenital cardiologist. There are more than 1.8 million adults living with congenital heart defects.[44]
Mental health
Supporting people with chronic diseases such as congenital heart disease with emotional problems and mental health is a treatment consideration.[45] Since some people with congenital heart disease have a lower quality of life that is related to their condition, some people may struggle with finding a job, engaging in physical exercise, with their fertility, and clinical depression as examples. An estimated 31% of adults with congenital heart disease also have mood disorders.[45] Psychotherapy may be helpful for treating some people who have congenital heart disease and depression, however further research is needed to determine the best way to reduce depression including the length of treatments required for an improvement, type of psychotherapy treatments, and how the psychotherapy sessions are delivered.[45]
Epidemiology
Heart defects are among the most common birth defect, occurring in 1% of live births (2–3% including bicuspid aortic valve).[11] In 2013, 34.3 million people had CHD. In 2010, they resulted in 223,000 deaths, down from 278,000 deaths in 1990.[46]
For congenital heart defects that arise without a family history (de novo), the recurrence risk in offspring is 3–5%.[47][48] This risk is higher in left ventricular outflow tract obstructions, heterotaxy, and atrioventricular septal defects.[47][48]
Terminology
Congenital heart defects are known by a number of names including congenital heart anomaly, congenital heart disease, heart defects, and congenital cardiovascular malformations.[49]
See also
References
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- ^ a b c d "How Are Congenital Heart Defects Treated?". National Heart, Lung, and Blood Institute. July 1, 2011. Archived from the original on 27 July 2015. Retrieved 10 August 2015.
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- ^ Rokitarisky KE (1875). Die defecte der Scheidewande des Herzens (in German). Wien.
{{cite book}}
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- ^ Crymskiy LD (1963). "Patologicheskaya anatomiya vrozhdennykh porokov serdtsa i oslozhneniy posle ikh khirurgicheskogo lecheniya" [Pathological anatomy of congenital heart defects and complications after their surgical treatment.]. Meditsina (in Russian).
- ^ MedlinePlus Encyclopedia: Fetal echocardiography
- ^ a b c "Congenital heart disease - Diagnosis - NHS Choices". Archived from the original on 2012-02-10. Retrieved 2012-03-14.
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- ^ "Hypoplastic Left Heart Syndrome". American Heart. Archived from the original on 11 June 2010. Retrieved 30 July 2010.
- ^ a b c "Congenital Cardiovascular Defects". American Heart. Archived from the original on 20 June 2010. Retrieved 30 July 2010.
- ^ "Ventricular Septal Defect". eMedicine Health. Archived from the original on 18 July 2010. Retrieved 30 July 2010.
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External links
- Congenital heart defect at Curlie
- Congenital heart disease information for parents.