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Congenital heart defects, multiple types, 9(CHTD9)

MedGen UID:
1841003
Concept ID:
C5830367
Congenital Abnormality
Synonym: CHTD9
 
Gene (location): PLXND1 (3q22.1)
 
Monarch Initiative: MONDO:0859532
OMIM®: 620294

Definition

Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 306955). [from OMIM]

Clinical features

From HPO
Double outlet right ventricle
MedGen UID:
41649
Concept ID:
C0013069
Congenital Abnormality
Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
Transposition of the great arteries
MedGen UID:
21245
Concept ID:
C0040761
Congenital Abnormality
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.\n\nAlthough 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.\n\nSome 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.\n\nEach 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.\n\nPeople 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.
Truncus arteriosus
MedGen UID:
22501
Concept ID:
C0041206
Embryonic Structure
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
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.\n\nAlthough 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.\n\nSome 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.\n\nEach 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.\n\nPeople 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.
Left axis deviation
MedGen UID:
534423
Concept ID:
C0232297
Finding
A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.
Pulmonary artery atresia
MedGen UID:
82723
Concept ID:
C0265908
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Mitral atresia disorder
MedGen UID:
91035
Concept ID:
C0344760
Congenital Abnormality
A congenital defect with failure to open of the mitral valve orifice.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Arteria lusoria
MedGen UID:
1372352
Concept ID:
C2004632
Congenital Abnormality
Usually, three large arteries arise from the arch of the aorta
Unbalanced atrioventricular canal defect
MedGen UID:
482570
Concept ID:
C3280940
Finding
Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).
Single ventricle of indeterminate morphology
MedGen UID:
868823
Concept ID:
C4023233
Congenital Abnormality
Aortopulmonary collateral arteries
MedGen UID:
1633176
Concept ID:
C4703564
Anatomical Abnormality
Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic lymphatic lesion of the neck.

Professional guidelines

PubMed

Hancock HS, Romano JC, Armstrong A, Yu S, Lowery R, Gelehrter S
World J Pediatr Congenit Heart Surg 2018 Jul;9(4):434-439. doi: 10.1177/2150135118771344. PMID: 29945508
Farias M, Friedman KG, Powell AJ, de Ferranti SD, Marshall AC, Brown DW, Kulik TJ
Pediatrics 2012 Jul;130(1):93-8. Epub 2012 Jun 4 doi: 10.1542/peds.2011-3811. PMID: 22665413Free PMC Article
Chun K, Colombani PM, Dudgeon DL, Haller JA Jr
Ann Thorac Surg 1992 Apr;53(4):597-602; discussion 602-3. doi: 10.1016/0003-4975(92)90317-w. PMID: 1554267

Recent clinical studies

Etiology

Abbey P, Kandasamy D, Naranje P
Indian J Pediatr 2019 Sep;86(9):830-841. Epub 2019 Feb 21 doi: 10.1007/s12098-019-02856-0. PMID: 30790186
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA
Eur Heart J 2018 Mar 21;39(12):1015-1022. doi: 10.1093/eurheartj/ehx314. PMID: 29106500Free PMC Article
Ou Y, Mai J, Zhuang J, Liu X, Wu Y, Gao X, Nie Z, Qu Y, Chen J, Kielb C, Lauper U, Lin S
Pediatr Res 2016 Apr;79(4):549-58. Epub 2015 Dec 17 doi: 10.1038/pr.2015.264. PMID: 26679154
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Diagnosis

Stoll C, Alembik Y, Roth MP
Am J Med Genet A 2022 Jun;188(6):1700-1715. Epub 2022 Feb 18 doi: 10.1002/ajmg.a.62689. PMID: 35179301
Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B
Am J Med Genet A 2022 Apr;188(4):1149-1159. Epub 2021 Dec 31 doi: 10.1002/ajmg.a.62632. PMID: 34971082
Abbey P, Kandasamy D, Naranje P
Indian J Pediatr 2019 Sep;86(9):830-841. Epub 2019 Feb 21 doi: 10.1007/s12098-019-02856-0. PMID: 30790186
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Therapy

Baird CW, Chávez M, Sleeper LA, Borisuk MJ, Bacha EA, Burchill L, Guleserian K, Ilbawi M, Nguyen K, Razzouk A, Shinkawa T, Lu M, Fuller SM
J Thorac Cardiovasc Surg 2021 Feb;161(2):345-362.e2. Epub 2020 Sep 10 doi: 10.1016/j.jtcvs.2020.06.157. PMID: 33069421
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
El-Gilany AH, Yahia S, Wahba Y
Ann Saudi Med 2017 Sep-Oct;37(5):386-392. doi: 10.5144/0256-4947.2017.386. PMID: 28988253Free PMC Article
Bergersen L, Gauvreau K, McElhinney D, Fenwick S, Kirshner D, Harding J, Hickey P, Mayer J, Marshall A
Pediatrics 2013 Feb;131(2):258-67. Epub 2013 Jan 21 doi: 10.1542/peds.2012-0043. PMID: 23339229
Gilboa SM, Desrosiers TA, Lawson C, Lupo PJ, Riehle-Colarusso TJ, Stewart PA, van Wijngaarden E, Waters MA, Correa A; National Birth Defects Prevention Study
Occup Environ Med 2012 Sep;69(9):628-35. Epub 2012 Jul 17 doi: 10.1136/oemed-2011-100536. PMID: 22811060Free PMC Article

Prognosis

Zheng S, Huang H, Ma L, Zhu T
BMC Med Genomics 2022 Aug 24;15(1):184. doi: 10.1186/s12920-022-01336-3. PMID: 36002837Free PMC Article
Cai R, Ma X, Zhao X, Xu J, Zhu L, Ku L
J Card Surg 2022 Jul;37(7):2172-2181. Epub 2022 May 4 doi: 10.1111/jocs.16500. PMID: 35508600
Jacobs ML, Jacobs JP, Thibault D, Hill KD, Anderson BR, Eghtesady P, Karamlou T, Kumar SR, Mayer JE, Mery CM, Nathan M, Overman DM, Pasquali SK, St Louis JD, Shahian D, O'Brien SM
World J Pediatr Congenit Heart Surg 2021 Mar;12(2):246-281. doi: 10.1177/2150135121991528. PMID: 33683997
Woudstra OI, Kuijpers JM, Meijboom FJ, Post MC, Jongbloed MRM, Duijnhouwer AL, van Dijk APJ, van Melle JP, Konings TC, Zwinderman AH, Mulder BJM, Bouma BJ
Eur Heart J Cardiovasc Pharmacother 2019 Oct 1;5(4):216-225. doi: 10.1093/ehjcvp/pvz014. PMID: 30903133Free PMC Article
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Clinical prediction guides

Jacobs ML, Jacobs JP, Thibault D, Hill KD, Anderson BR, Eghtesady P, Karamlou T, Kumar SR, Mayer JE, Mery CM, Nathan M, Overman DM, Pasquali SK, St Louis JD, Shahian D, O'Brien SM
World J Pediatr Congenit Heart Surg 2021 Mar;12(2):246-281. doi: 10.1177/2150135121991528. PMID: 33683997
Sillesen AS, Vøgg O, Pihl C, Raja AA, Sundberg K, Vedel C, Zingenberg H, Jørgensen FS, Vejlstrup N, Iversen K, Bundgaard H
JAMA 2021 Feb 9;325(6):561-567. doi: 10.1001/jama.2020.27205. PMID: 33560321Free PMC Article
Jung JH, Lee H, Zeng SX, Lu H
Cells 2020 Sep 16;9(9) doi: 10.3390/cells9092107. PMID: 32947864Free PMC Article
Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA
Eur Heart J 2018 Mar 21;39(12):1015-1022. doi: 10.1093/eurheartj/ehx314. PMID: 29106500Free PMC Article
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P
Orphanet J Rare Dis 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. PMID: 25238977Free PMC Article

Recent systematic reviews

Yang L, Tai BC, Khin LW, Quek SC
J Interv Cardiol 2014 Jun;27(3):260-72. Epub 2014 Apr 29 doi: 10.1111/joic.12121. PMID: 24773223

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