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Congenital heart defects, multiple types, 7(CHTD7)

MedGen UID:
1714491
Concept ID:
C5394062
Congenital Abnormality
Synonyms: CHTD7; CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7
 
Gene (location): FLT4 (5q35.3)
 
Monarch Initiative: MONDO:0032913
OMIM®: 618780

Definition

Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019). [from OMIM]

Clinical features

From HPO
Right aortic arch
MedGen UID:
48474
Concept ID:
C0035615
Congenital Abnormality
Aorta descends on right instead of on the left.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
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.\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\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\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\nCritical 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.
Absence of the pulmonary valve
MedGen UID:
78575
Concept ID:
C0265831
Congenital Abnormality
Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.
Double aortic arch
MedGen UID:
488819
Concept ID:
C0265883
Congenital Abnormality
A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
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.
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).
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.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.

Professional guidelines

PubMed

Barker PCA, Tatum GH, Campbell MJ, Camitta MGW, Milazzo AS, Hornik CP, French A, Miller SG
Cardiol Young 2018 Nov;28(11):1306-1315. Epub 2018 Aug 6 doi: 10.1017/S104795111800121X. PMID: 30079851Free PMC Article
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

Recent clinical studies

Etiology

Brennan Z, Sharaf OM, Treffalls JA, Roa-Vidal N, Weinstein DJ, Bassuk JS, Stukov Y, Peek GJ, Bleiweis MS, Jacobs JP
Cardiol Young 2023 Jul;33(7):1079-1085. Epub 2023 Aug 22 doi: 10.1017/S1047951123001294. PMID: 37605817
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
Yin Y, Ji J, Zhao J, Chen S, Tian W
BMC Musculoskelet Disord 2020 Nov 25;21(1):777. doi: 10.1186/s12891-020-03813-1. PMID: 33238988Free PMC Article
Forte A, Cipollaro M, De Feo M, Della Corte A
Clin Sci (Lond) 2019 Apr 15;133(7):805-819. Epub 2019 Apr 2 doi: 10.1042/CS20181092. PMID: 30991346
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Diagnosis

Restrepo CS, Gonzalez TV, Baxi AJ, Saboo SS
Tomography 2022 Jul 27;8(4):1947-1958. doi: 10.3390/tomography8040163. PMID: 36006061Free PMC Article
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
Stoll C, Alembik Y, Roth MP
Am J Med Genet A 2021 Jul;185(7):1954-1971. Epub 2021 Apr 21 doi: 10.1002/ajmg.a.62112. PMID: 33881198
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Feb;58(2):75-85. Epub 2014 Dec 12 doi: 10.1016/j.ejmg.2014.12.002. PMID: 25497206
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Therapy

Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D
Orphanet J Rare Dis 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. PMID: 34857025Free PMC Article
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
Holzer R, Beekman R, Benson L, Bergersen L, Jayaram N, Jenkins K, Kennedy K, Moore J, Ringel R, Rome J, Vincent R, Martin GR
Cardiol Young 2016 Aug;26(6):1202-12. Epub 2015 Oct 12 doi: 10.1017/S1047951115002218. PMID: 26455737
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
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

Restrepo CS, Gonzalez TV, Baxi AJ, Saboo SS
Tomography 2022 Jul 27;8(4):1947-1958. doi: 10.3390/tomography8040163. PMID: 36006061Free 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
Forte A, Cipollaro M, De Feo M, Della Corte A
Clin Sci (Lond) 2019 Apr 15;133(7):805-819. Epub 2019 Apr 2 doi: 10.1042/CS20181092. PMID: 30991346
Xie D, Wang H, Liu Z, Fang J, Yang T, Zhou S, Wang A, Qin J, Xiong L
PLoS One 2017;12(6):e0177229. Epub 2017 Jun 7 doi: 10.1371/journal.pone.0177229. PMID: 28591192Free PMC Article
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Clinical prediction guides

Brennan Z, Sharaf OM, Treffalls JA, Roa-Vidal N, Weinstein DJ, Bassuk JS, Stukov Y, Peek GJ, Bleiweis MS, Jacobs JP
Cardiol Young 2023 Jul;33(7):1079-1085. Epub 2023 Aug 22 doi: 10.1017/S1047951123001294. PMID: 37605817
Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D
Orphanet J Rare Dis 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. PMID: 34857025Free PMC Article
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
Hartman RJ, Rasmussen SA, Botto LD, Riehle-Colarusso T, Martin CL, Cragan JD, Shin M, Correa A
Pediatr Cardiol 2011 Dec;32(8):1147-57. Epub 2011 Jul 5 doi: 10.1007/s00246-011-0034-5. PMID: 21728077

Recent systematic reviews

Restrepo CS, Gonzalez TV, Baxi AJ, Saboo SS
Tomography 2022 Jul 27;8(4):1947-1958. doi: 10.3390/tomography8040163. PMID: 36006061Free PMC Article
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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