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Congenital heart disease(CHD)

MedGen UID:
57501
Concept ID:
C0152021
Congenital Abnormality
Synonyms: CHD
SNOMED CT: Congenital heart disease (13213009); CHD - Congenital heart disease (13213009)
 

Definition

Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus. [from GTR]

Additional description

From GHR
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.  https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital heart disease

Recent clinical studies

Etiology

Eslami B
Congenit Heart Dis 2017 May;12(3):357-363. Epub 2017 Feb 20 doi: 10.1111/chd.12452. PMID: 28217850
Caruana M, Grech V
Congenit Heart Dis 2016 Jul;11(4):332-40. Epub 2016 Apr 8 doi: 10.1111/chd.12366. PMID: 27060997
Gerardin JF, Menk JS, Pyles LA, Martin CM, Lohr JL
Congenit Heart Dis 2016 May;11(3):245-53. Epub 2015 Nov 11 doi: 10.1111/chd.12309. PMID: 26554543
Greutmann M, Tobler D, Kovacs AH, Greutmann-Yantiri M, Haile SR, Held L, Ivanov J, Williams WG, Oechslin EN, Silversides CK, Colman JM
Congenit Heart Dis 2015 Mar-Apr;10(2):117-27. Epub 2014 Jul 7 doi: 10.1111/chd.12201. PMID: 25043406
Loomba RS, Aggarwal S, Pelech AN
Congenit Heart Dis 2015 Jan-Feb;10(1):30-5. Epub 2014 Feb 13 doi: 10.1111/chd.12168. PMID: 24521242

Diagnosis

Everitt IK, Gerardin JF, Rodriguez FH 3rd, Book WM
Congenit Heart Dis 2017 May;12(3):242-250. doi: 10.1111/chd.12463. PMID: 28580608
Eslami B
Congenit Heart Dis 2017 May;12(3):357-363. Epub 2017 Feb 20 doi: 10.1111/chd.12452. PMID: 28217850
Caruana M, Grech V
Congenit Heart Dis 2016 Jul;11(4):332-40. Epub 2016 Apr 8 doi: 10.1111/chd.12366. PMID: 27060997
Gerardin JF, Menk JS, Pyles LA, Martin CM, Lohr JL
Congenit Heart Dis 2016 May;11(3):245-53. Epub 2015 Nov 11 doi: 10.1111/chd.12309. PMID: 26554543
Loomba RS, Aggarwal S, Pelech AN
Congenit Heart Dis 2015 Jan-Feb;10(1):30-5. Epub 2014 Feb 13 doi: 10.1111/chd.12168. PMID: 24521242

Therapy

Eslami B
Congenit Heart Dis 2017 May;12(3):357-363. Epub 2017 Feb 20 doi: 10.1111/chd.12452. PMID: 28217850
Caruana M, Grech V
Congenit Heart Dis 2016 Jul;11(4):332-40. Epub 2016 Apr 8 doi: 10.1111/chd.12366. PMID: 27060997
Buelow MW, Earing MG, Hill GD, Cohen SB, Bartz PJ, Tweddell JS, Ginde S
Congenit Heart Dis 2015 Sep-Oct;10(5):E197-202. Epub 2015 Apr 27 doi: 10.1111/chd.12266. PMID: 25916657
Larsen SH, Emmertsen K, Hjortdal VE, Nielsen-Kudsk JE
Congenit Heart Dis 2015 Mar-Apr;10(2):153-8. Epub 2014 Sep 8 doi: 10.1111/chd.12218. PMID: 25196278
Dadlez NM, Brubaker SG, Simpson LL, Yilmaz B, Williams IA
Congenit Heart Dis 2014 Sep-Oct;9(5):368-72. PMID: 25371936Free PMC Article

Prognosis

Everitt IK, Gerardin JF, Rodriguez FH 3rd, Book WM
Congenit Heart Dis 2017 May;12(3):242-250. doi: 10.1111/chd.12463. PMID: 28580608
Tannous P, Ghelani SJ, Marshall AC, Porras D
Congenit Heart Dis 2017 Jul;12(4):467-474. Epub 2017 Mar 10 doi: 10.1111/chd.12457. PMID: 28294539
Eslami B
Congenit Heart Dis 2017 May;12(3):357-363. Epub 2017 Feb 20 doi: 10.1111/chd.12452. PMID: 28217850
Miles S, Ahmad W, Bailey A, Hatton R, Boyle A, Collins N
Congenit Heart Dis 2016 Dec;11(6):678-682. Epub 2016 May 23 doi: 10.1111/chd.12369. PMID: 27214563
Greutmann M, Tobler D, Kovacs AH, Greutmann-Yantiri M, Haile SR, Held L, Ivanov J, Williams WG, Oechslin EN, Silversides CK, Colman JM
Congenit Heart Dis 2015 Mar-Apr;10(2):117-27. Epub 2014 Jul 7 doi: 10.1111/chd.12201. PMID: 25043406

Clinical prediction guides

Everitt IK, Gerardin JF, Rodriguez FH 3rd, Book WM
Congenit Heart Dis 2017 May;12(3):242-250. doi: 10.1111/chd.12463. PMID: 28580608
Miles S, Ahmad W, Bailey A, Hatton R, Boyle A, Collins N
Congenit Heart Dis 2016 Dec;11(6):678-682. Epub 2016 May 23 doi: 10.1111/chd.12369. PMID: 27214563
Larsen SH, Emmertsen K, Hjortdal VE, Nielsen-Kudsk JE
Congenit Heart Dis 2015 Mar-Apr;10(2):153-8. Epub 2014 Sep 8 doi: 10.1111/chd.12218. PMID: 25196278
Greutmann M, Tobler D, Kovacs AH, Greutmann-Yantiri M, Haile SR, Held L, Ivanov J, Williams WG, Oechslin EN, Silversides CK, Colman JM
Congenit Heart Dis 2015 Mar-Apr;10(2):117-27. Epub 2014 Jul 7 doi: 10.1111/chd.12201. PMID: 25043406
Guzeltas A, Ozyilmaz I, Tanidir C, Odemis E, Tola HT, Ergul Y, Bilici M, Haydin S, Erek E, Bakir I
Congenit Heart Dis 2014 Jul-Aug;9(4):300-6. Epub 2013 Sep 19 doi: 10.1111/chd.12139. PMID: 24102771

Recent systematic reviews

Liu M, Zhao L, Yuan J
Comput Math Methods Med 2016;2016:9506829. Epub 2016 Mar 16 doi: 10.1155/2016/9506829. PMID: 27118988Free PMC Article
Holland BJ, Myers JA, Woods CR Jr
Ultrasound Obstet Gynecol 2015 Jun;45(6):631-8. doi: 10.1002/uog.14882. PMID: 25904437
Heery E, Sheehan AM, While AE, Coyne I
Congenit Heart Dis 2015 Sep-Oct;10(5):413-27. Epub 2015 Feb 9 doi: 10.1111/chd.12251. PMID: 25659600
Jackson JL, Misiti B, Bridge JA, Daniels CJ, Vannatta K
Congenit Heart Dis 2015 Jan-Feb;10(1):2-12. Epub 2014 Feb 26 doi: 10.1111/chd.12178. PMID: 24612910Free PMC Article
Brown DW, Connor JA, Pigula FA, Usmani K, Klitzner TS, Beekman RH 3rd, Kugler JD, Martin GR, Neish SR, Rosenthal GL, Lannon C, Jenkins KJ; Joint Council on Congenital Heart Disease National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC).
Congenit Heart Dis 2011 Mar-Apr;6(2):108-15. doi: 10.1111/j.1747-0803.2011.00508.x. PMID: 21426524

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