Congenital heart defect

Image:CongenitalHeartCase-133.jpg with cyanotic nail beds in an adult with tetralogy of Fallot]]

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.{{cite web|author-first1=Lee B.|author-last1=Beerman|title=Heart Defects: Birth Defects|url=http://www.merck.com/mmhe/sec23/ch265/ch265b.html|publisher=Merck & Co., Inc|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100804030530/http://www.merck.com/mmhe/sec23/ch265/ch265b.html|archive-date=4 August 2010}} Some children have no signs while others may exhibit shortness of breath, cyanosis, fainting,{{cite web|title=National Heart, Lung, and Blood Institute|url=http://www.nhlbi.nih.gov/health/dci/Diseases/chd/chd_signs.html|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100808023315/http://www.nhlbi.nih.gov/health/dci/Diseases/chd/chd_signs.html|archive-date=8 August 2010}} 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 |last1=Thomas |first1=Seth L. |title=Physiology, Cardiovascular Murmurs |date=2024 |work=StatPearls |url=http://www.ncbi.nlm.nih.gov/books/NBK525958/ |access-date=2024-05-01 |place=Treasure Island (FL) |publisher=StatPearls Publishing |pmid=30247833 |last2=Heaton |first2=Joseph |last3=Makaryus |first3=Amgad N.}}

Congenital heart defects are associated with an increased incidence of seven other specific medical conditions, together being called the VACTERL association:{{Cite journal |last=Solomon |first=Benjamin D. |date=2011-08-16 |title=VACTERL/VATER Association |journal=Orphanet Journal of Rare Diseases |volume=6 |pages=56 |doi=10.1186/1750-1172-6-56 |doi-access=free |issn=1750-1172 |pmc=3169446 |pmid=21846383}}

• 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 defect (ASD), and tetralogy of Fallot (ToF) are the most common congenital heart defects seen in the VACTERL association. Less common defects in the association are persistent truncus arteriosus and transposition of the great arteries.{{Cite journal |last1=Cunningham |first1=Bridget K. |last2=Hadley |first2=Donald W. |last3=Hannoush |first3=Hwaida |last4=Meltzer |first4=Andrew C. |last5=Niforatos |first5=Nickie |last6=Pineda-Alvarez |first6=Daniel |last7=Sachdev |first7=Vandana |last8=Warren-Mora |first8=Nicole |last9=Solomon |first9=Benjamin D. |date=2013 |title=Analysis of cardiac anomalies in VACTERL association |journal=Birth Defects Research Part A: Clinical and Molecular Teratology |language=en |volume=97 |issue=12 |pages=792–797 |doi=10.1002/bdra.23211 |pmid=24343877 |pmc=10249417 |issn=1542-0752}}

The cause of congenital heart disease may be genetic, environmental, or a combination of both.

Genetic mutations, often sporadic, represent the largest known cause of congenital heart defects.{{cite journal | vauthors = Blue GM, Kirk EP, Giannoulatou E, Sholler GF, Dunwoodie SL, Harvey RP, Winlaw DS | title = Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide | journal = Journal of the American College of Cardiology | volume = 69 | issue = 7 | pages = 859–870 | date = February 2017 | pmid = 28209227 | doi = 10.1016/j.jacc.2016.11.060 | doi-access = free }} They are described in the table below.

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) are associated with atrial septal defects.{{cite journal | vauthors = Razmara E, Garshasbi M | title = Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease | journal = BMC Cardiovascular Disorders | volume = 18 | issue = 1 | pages = 137 | date = July 2018 | pmid = 29969989 | pmc = 6029398 | doi = 10.1186/s12872-018-0867-4 | doi-access = free }} Several proteins that interact with MYH6 are also associated with cardiac defects. The transcription factor GATA4 forms a complex with the TBX5 which interacts with MYH6. Another factor, the homeobox (developmental) gene, NKX2-5 also interacts with MYH6. Mutations of all these proteins are associated with both atrial and ventricular septal defects; In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt–Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb. The Wnt signaling co-factors BCL9, BCL9L and PYGO might be part of these molecular pathways, as when their genes are mutated, this causes phenotypes similar to the features present in Holt-Oram syndrome.{{cite journal | vauthors = Cantù C, Felker A, Zimmerli D, Prummel KD, Cabello EM, Chiavacci E, Méndez-Acevedo KM, Kirchgeorg L, Burger S, Ripoll J, Valenta T, Hausmann G, Vilain N, Aguet M, Burger A, Panáková D, Basler K, Mosimann C | display-authors = 6 | title = Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/β-catenin signaling | journal = Genes & Development | volume = 32 | issue = 21–22 | pages = 1443–1458 | date = November 2018 | pmid = 30366904 | pmc = 6217730 | doi = 10.1101/gad.315531.118 }} Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has extensive symptoms including defects of the cardiac outflow tract including tetralogy of Fallot.

The notch signaling pathway, a regulatory mechanism for cell growth and differentiation, plays broad roles in several aspects of cardiac development. Notch elements are involved in determination of the right and left sides of the body plan, so the directional folding of the heart tube can be impacted. Notch signaling is involved early in the formation of the endocardial cushions and continues to be active as the develop into the septa and valves. It is also involved in the development of the ventricular wall and the connection of the outflow tract to the great vessels. Mutations in the gene for one of the notch ligands, Jagged1, are identified in the majority of examined cases of arteriohepatic dysplasia (Alagille syndrome), characterized by defects of the great vessels (pulmonary artery stenosis), heart (tetralogy of Fallot in 13% of cases), liver, eyes, face, and bones. Though less than 1% of all cases, where no defects are found in the Jagged1 gene, defects are found in Notch2 gene. In 10% of cases, no mutation is found in either gene. For another member of the gene family, mutations in the Notch1 gene are associated with bicuspid aortic valve, a valve with two leaflets instead of three. Notch1 is also associated with calcification of the aortic valve, the third most common cause of heart disease in adults.{{cite journal | vauthors = Niessen K, Karsan A | title = Notch signaling in cardiac development | journal = Circulation Research | volume = 102 | issue = 10 | pages = 1169–81 | date = May 2008 | pmid = 18497317 | doi = 10.1161/CIRCRESAHA.108.174318 | doi-access = free }}{{cite book | vauthors = Spinner NB, Gilbert MA, Loomes KM, Krantz ID | veditors = Adam MP, Ardinger HH, Pagon RA, etal | chapter = Alagille Syndrome | chapter-url = https://www.ncbi.nlm.nih.gov/books/NBK1273/ | date = 20 July 2010 | pmid = 20301450 | title = GeneReviews | publisher = University of Washington, Seattle }}

Mutations of a cell regulatory mechanism, the Ras/MAPK pathway are responsible for a variety of syndromes, including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac involvement.{{cite journal | vauthors = Tidyman WE, Rauen KA | title = The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation | journal = Current Opinion in Genetics & Development | volume = 19 | issue = 3 | pages = 230–6 | date = June 2009 | pmid = 19467855 | pmc = 2743116 | doi = 10.1016/j.gde.2009.04.001 }} While the conditions listed are known genetic causes, there are likely many other genes which are more subtle. It is known that the risk for congenital heart defects is higher when there is a close relative with one.

Known environmental factors include certain infections during pregnancy such as rubella, drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).{{cite web|title=Factors Contributing to Congenital Heart Disease|url=http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/cardiac/fcchd.html|publisher=Lucile Packard Children's Hospital at Stanford|access-date=30 July 2010|url-status=dead|archive-url=https://web.archive.org/web/20100704183659/http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/cardiac/fcchd.html|archive-date=4 July 2010}} Alcohol exposure in the father also appears to increase the risk of congenital heart defects.{{cite journal | vauthors = Zhang S, Wang L, Yang T, Chen L, Zhao L, Wang T, Chen L, Ye Z, Zheng Z, Qin J | display-authors = 6 | title = Parental alcohol consumption and the risk of congenital heart diseases in offspring: An updated systematic review and meta-analysis | journal = European Journal of Preventive Cardiology | volume = 27 | issue = 4 | pages = 410–421 | date = March 2020 | pmid = 31578093 | doi = 10.1177/2047487319874530 | s2cid = 203653146 | doi-access = free }}

Being overweight or obese increases the risk of congenital heart disease. Additionally, as maternal obesity increases, the risk of heart defects also increases.{{cite journal | vauthors = Mills JL, Troendle J, Conley MR, Carter T, Druschel CM | title = Maternal obesity and congenital heart defects: a population-based study | journal = The American Journal of Clinical Nutrition | volume = 91 | issue = 6 | pages = 1543–9 | date = June 2010 | pmid = 20375192 | pmc = 2869507 | doi = 10.3945/ajcn.2009.28865 }} A distinct physiological mechanism has not been identified to explain the link between maternal obesity and CHD, but both pre-pregnancy folate deficiency and diabetes have been implicated in some studies.{{cite journal | vauthors = Rasmussen SA, Galuska DA | title = Prepregnancy obesity and birth defects: what's next? | journal = The American Journal of Clinical Nutrition | volume = 91 | issue = 6 | pages = 1539–40 | date = June 2010 | pmid = 20427732 | doi = 10.3945/ajcn.2010.29666 | doi-access = free }}

Congenital heart defects happen more often in twins than in single babies. Monochorionic twins, who share a placenta, have a greater risk of these heart defects compared to dichorionic twins, who have their own placentas.{{Cite web |title=October - Press Office - Newcastle University |url=https://www.ncl.ac.uk/press/articles/archive/2015/10/twinsmorelikelytosufferfromcongenitalheartdisease.html#:~:text=Normally,%20only%20identical%20twins%20share,disease%20compared%20to%20single%20births. |access-date=2024-10-12 |website=www.ncl.ac.uk}} A systematic review and meta-analysis of four studies conducted in 2007 showed a 9-fold increase in CHD risk in MC twins compared to singletons.{{Cite journal |last1=Gijtenbeek |first1=Manon |last2=Shirzada |first2=Maryam R. |last3=Ten Harkel |first3=Arend D. J. |last4=Oepkes |first4=Dick |last5=C. Haak |first5=Monique |date=2019-06-24 |title=Congenital Heart Defects in Monochorionic Twins: A Systematic Review and Meta-Analysis |journal=Journal of Clinical Medicine |volume=8 |issue=6 |pages=902 |doi=10.3390/jcm8060902 |doi-access=free |issn=2077-0383 |pmc=6617007 |pmid=31238552}}

{{main|Heart development}}

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.{{cite book |last1= Schoen |first1= Frederick J. |first2= Mitchell |last2= Richard N.|editor1-last= Kumar |editor1-first= Vinay |editor2-last= Abbas |editor2-first= Abul K. |editor3-last= Fausto |editor3-first= Nelson |editor4-last= Aster |editor4-first= Jon C. | name-list-style = vanc |editor-link= Vinay Kumar (pathologist) |title= Robbins and Cotran Pathologic Basis of Disease |edition= 8th |year= 2010 |publisher= Saunders Elsevier |isbn= 978-1-4160-3121-5|chapter= 12. The Heart}} 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.{{cite journal | vauthors = Srivastava D | title = Making or breaking the heart: from lineage determination to morphogenesis | journal = Cell | volume = 126 | issue = 6 | pages = 1037–48 | date = September 2006 | pmid = 16990131 | doi = 10.1016/j.cell.2006.09.003 | doi-access = free }}

Around day 15 of development, the cells that will become the heart exist in two horseshoe shaped bands of the middle tissue layer (mesoderm), and some cells migrate from a portion of the outer layer (ectoderm), the neural crest, which is the source of a variety of cells found throughout the body. On day 19 of development, a pair of vascular elements, the "endocardial tubes", form. The tubes fuse when cells between then undergo programmed death and cells from the first heart field migrate to the tube, and form a ring of heart cells (myocytes) around it by day 21. On day 22, the heart begins to beat and by day 24, blood is circulating.{{cite book |last= Larsen |first= William J. | name-list-style = vanc |title= Human Embryology |year= 1993 |publisher= Churchill Livingstone |isbn= 978-0-443-08724-0 |chapter= 7. Development of the Heart }}

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.

On day 28, areas of tissue in the heart tube begin to expand inwards; after about two weeks, these expansions (the membranous "septum primum" and the muscular "endocardial cushions") fuse to form the four chambers of the heart. A failure to fuse properly will result in a defect that may allow blood to leak between chambers. After this happens, cells that have migrated from the neural crest begin to divide the bulbus cordis. The main outflow tract is divided in two by the growth of a spiraling septum, becoming the great vessels—the ascending segment of the aorta and the pulmonary trunk. If the separation is incomplete, the result is a "persistent truncus arteriosus". The vessels may be reversed ("transposition of the great vessels"). The two halves of the split tract must migrate into the correct positions over the appropriate ventricles. A failure may result in some blood flowing into the wrong vessel (e.g. overriding aorta). The four-chambered heart and the great vessels have features required for fetal growth. The lungs are unexpanded and cannot accommodate the full circulatory volume. Two structures exist to shunt blood flow away from the lungs to compensate. Cells in part of the septum primum die, creating a hole while new muscle cells (the "septum secundum") grow along the right atrial side of the septum primum except for one region, leaving a gap through which blood can pass from the right atrium to the left atrium (the foramen ovale). A small vessel called the ductus arteriosus allows blood from the pulmonary artery to pass to the aorta.

The ductus arteriosus stays open because of circulating factors including prostaglandins. The foramen ovale stays open because of the flow of blood from the right atrium to the left atrium. As the lungs expand, blood flows easily through the lungs and the membranous portion of the foramen ovale (the septum primum) flops over the muscular portion (the septum secundum). If the closure is incomplete, the result is a patent foramen ovale. The two flaps may fuse, but many adults have a foramen ovale that stays closed only because of the pressure difference between the atria.

Rokitansky (1875) explained congenital heart defects as breaks in heart development at various ontogenesis stages.{{cite book | vauthors = Rokitarisky KE | date = 1875 | title = Die defecte der Scheidewande des Herzens | language = de | location = Wien }} Spitzer (1923) treats them as returns to one of the phylogenesis stages.{{cite journal | vauthors = Spitzer A | title = Über den Bauplan des normalen und mißbildeten Herzens| language = de | journal = Virchows Archiv für Pathologische Anatomie und Physiologie und für Klinische Medizin| date = May 1923 | volume = 243 | pages = 81–272 | doi = 10.1007/BF01961720 | s2cid = 29190020 }} Krimski (1963), synthesizing two previous points of view, considered congenital heart diseases as a stop of development at the certain stage of ontogenesis, corresponding to this or that stage of the phylogenesis.{{cite journal | vauthors = Crymskiy LD |title=Patologicheskaya anatomiya vrozhdennykh porokov serdtsa i oslozhneniy posle ikh khirurgicheskogo lecheniya | trans-title = Pathological anatomy of congenital heart defects and complications after their surgical treatment. | journal = Meditsina |language=ru | date = 1963 }} Hence, these theories can explain feminine and neutral types of defects only.{{citation needed|date=February 2021}}

Many congenital heart defects can be diagnosed prenatally by fetal echocardiography. This is a test which can be done during the second trimester of pregnancy, when the woman is about 18–24 weeks pregnant.{{MedlinePlusEncyclopedia|007340|Fetal echocardiography}}{{cite web |url=http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Diagnosis.aspx |title=Congenital heart disease - Diagnosis - NHS Choices |access-date=2012-03-14 |url-status=live |archive-url=https://web.archive.org/web/20120210044203/http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Diagnosis.aspx |archive-date=2012-02-10 }} It can be an abdominal ultrasound or transvaginal ultrasound.{{citation needed|date=October 2021}}

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).

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.

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.{{cite book | first1 = Thomas P. | last1 = Shanley | first2 = Derek S. | last2 = Wheeler | first3 = Hector R. | last3 = Wong | name-list-style = vanc |title=Pediatric critical care medicine: basic science and clinical evidence |publisher=Springer |location=Berlin |year=2007 |page=666 |isbn=978-1-84628-463-2 |url=https://books.google.com/books?id=ml5bx1PxxOQC&q=classification%20of%20congenital%20heart%20disease&pg=PA665 |url-status=live |archive-url=https://web.archive.org/web/20170318233851/https://books.google.com/books?id=ml5bx1PxxOQC&pg=PA665&q=classification%20of%20congenital%20heart%20disease |archive-date=2017-03-18 }}

{{Main|Hypoplastic left heart syndrome|Hypoplastic right heart syndrome}}

Hypoplasia can affect the heart, typically resulting in the underdevelopment of the right ventricle or the left ventricle. This causes only one side of the heart to be capable of pumping blood to the body and lungs effectively. 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.{{cite web|title=Hypoplastic Left Heart Syndrome|url=http://www.americanheart.org/presenter.jhtml?identifier=1353|publisher=American Heart|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100611075830/http://www.americanheart.org/presenter.jhtml?identifier=1353|archive-date=11 June 2010}}

{{main|Ventricular outflow tract obstruction}}

Obstructive defects occur when heart valves, arteries, or veins are abnormally narrow or blocked. Common defects include pulmonic stenosis, aortic 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.{{cite web|title=Congenital Cardiovascular Defects|url=http://www.americanheart.org/presenter.jhtml?identifier=4565|publisher=American Heart|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100620120456/http://americanheart.org/presenter.jhtml?identifier=4565|archive-date=20 June 2010}}

The septum is a wall of tissue which separates the left heart from the right heart. Defects in the interatrial septum or the interventricular septum allow 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,{{cite web|title=Ventricular Septal Defect|url=http://www.emedicinehealth.com/ventricular_septal_defect/article_em.htm|publisher=eMedicine Health|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100718025102/http://www.emedicinehealth.com/ventricular_septal_defect/article_em.htm|archive-date=18 July 2010}} although approximately 30% of adults have a type of atrial septal defect called probe patent foramen ovale.{{cite web|title=Circulatory Changes at Birth|url=http://mcb.berkeley.edu/courses/mcb135e/fetal.html|publisher=University of California at Berkeley|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100718061131/http://mcb.berkeley.edu/courses/mcb135e/fetal.html|archive-date=18 July 2010}} An atrioventricular septal defect is more complex involving an atrial septal defect, a ventricular septal defect, and irregularities in the heart valves.{{cite web |title=Atrioventricular Septal Defect (AVSD) |url=https://www.childrensmn.org/services/care-specialties-departments/cardiovascular-program/conditions-and-services/atrioval-defect-avsd/ |website=Children's Minnesota |access-date=27 March 2025}}

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.

• 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
• dextro-Transposition of the great arteries (d-TGA)
• levo-Transposition of the great arteries (l-TGA)
• 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|date=February 2021}}

• 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|date=February 2021}}

• Tetralogy of Fallot (ToF)
• Pentalogy of Cantrell
• Shone's syndrome/ Shone's complex / Shone's anomaly

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|date=February 2021}}

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|date=February 2021}}

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.{{cite web|title=Adult Congenital Heart Association|url=http://www.achaheart.org/|publisher=Adult Congenital Heart Association|access-date=30 July 2010|url-status=live|archive-url=https://web.archive.org/web/20100620073608/http://achaheart.org/|archive-date=20 June 2010}}

Supporting people with chronic diseases such as congenital heart disease with emotional problems and mental health is a treatment consideration.{{Cite journal |last1=Leo |first1=Donato Giuseppe |last2=Islam |first2=Umar |last3=Lotto |first3=Robyn R |last4=Lotto |first4=Attilio |last5=Lane |first5=Deirdre A |date=2023-10-03 |editor-last=Cochrane Heart Group |title=Psychological interventions for depression in adolescent and adult congenital heart disease |journal=Cochrane Database of Systematic Reviews |language=en |volume=2023 |issue=10 |pages=CD004372 |doi=10.1002/14651858.CD004372.pub3 |pmc=10546482 |pmid=37787122}} 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. 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.

File:Congenital heart anomalies world map-Deaths per million persons-WHO2012.svg

Heart defects are among the most common birth defect, occurring in 1% of live births (2–3% including bicuspid aortic valve). In 2013, 34.3 million people had CHD. In 2010, they resulted in 223,000 deaths, down from 278,000 deaths in 1990.{{cite journal | vauthors = Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, etal | title = Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010 | journal = Lancet | volume = 380 | issue = 9859 | pages = 2095–128 | date = December 2012 | pmid = 23245604 | doi = 10.1016/S0140-6736(12)61728-0 | pmc = 10790329 | hdl = 10536/DRO/DU:30050819 | s2cid = 1541253| url = https://zenodo.org/record/2557786| hdl-access = free }}

For congenital heart defects that arise without a family history (de novo), the recurrence risk in offspring is 3–5%.{{Cite journal |last1=Donofrio |first1=Mary T. |last2=Moon-Grady |first2=Anita J. |last3=Hornberger |first3=Lisa K. |last4=Copel |first4=Joshua A. |last5=Sklansky |first5=Mark S. |last6=Abuhamad |first6=Alfred |last7=Cuneo |first7=Bettina F. |last8=Huhta |first8=James C. |last9=Jonas |first9=Richard A. |last10=Krishnan |first10=Anita |last11=Lacey |first11=Stephanie |last12=Lee |first12=Wesley |last13=Michelfelder |first13=Erik C. |last14=Rempel |first14=Gwen R. |last15=Silverman |first15=Norman H. |date=2014-05-27 |title=Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association |journal=Circulation |volume=129 |issue=21 |pages=2183–2242 |doi=10.1161/01.cir.0000437597.44550.5d |issn=1524-4539 |pmid=24763516|s2cid=39191574 |doi-access=free }}{{cite journal | vauthors = Canobbio MM, Warnes CA, Aboulhosn J, Connolly HM, Khanna A, Koos BJ, Mital S, Rose C, Silversides C, Stout K | display-authors = 6 | title = Management of Pregnancy in Patients With Complex Congenital Heart Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association | journal = Circulation | volume = 135 | issue = 8 | pages = e50–e87 | date = February 2017 | pmid = 28082385 | doi = 10.1161/CIR.0000000000000458 | doi-access = free }} This risk is higher in left ventricular outflow tract obstructions, heterotaxy, and atrioventricular septal defects.

Congenital heart defects are known by a number of names including congenital heart anomaly, congenital heart disease, heart defects, and congenital cardiovascular malformations.{{cite web|title=Other Names for Congenital Heart Defects|url=http://www.nhlbi.nih.gov/health/health-topics/topics/chd/names|access-date=10 August 2015|date=July 1, 2011|url-status=live|archive-url=https://web.archive.org/web/20150727211012/http://www.nhlbi.nih.gov/health/health-topics/topics/chd/names|archive-date=27 July 2015}}

• Congenital Heart Surgeons' Society
• Congenital heart block

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• [https://web.archive.org/web/20140424050902/http://www.gosh.nhs.uk/medical-conditions/search-for-medical-conditions/congenital-heart-disease/congenital-heart-disease-information/ Congenital heart disease] information for parents.

{{Congenital malformations and deformations of circulatory system}}

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Category:Congenital heart defects

Category:Health issues in pregnancy

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