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Heterotaxy, visceral, 8, autosomal(HTX8)

MedGen UID:
934635
Concept ID:
C4310668
Disease or Syndrome
Synonym: HTX8
 
Gene (location): PKD1L1 (7p12.3)
 
Monarch Initiative: MONDO:0014967
OMIM®: 617205

Definition

Autosomal visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

Clinical features

From HPO
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
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.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Right aortic arch
MedGen UID:
48474
Concept ID:
C0035615
Congenital Abnormality
Aorta descends on right instead of on the left.
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
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\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.\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.
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.
Atrial situs ambiguous
MedGen UID:
756837
Concept ID:
C3164429
Congenital Abnormality
Common atrium without defining morphologic features.
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).
Congenitally corrected transposition of the great arteries with ventricular septal defect
MedGen UID:
868861
Concept ID:
C4023272
Congenital Abnormality
A congenitally corrected transposition of the great arteries with a ventricular septal defect
Atrial situs inversus
MedGen UID:
868901
Concept ID:
C4023312
Congenital Abnormality
Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.
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.
Abdominal situs inversus
MedGen UID:
52359
Concept ID:
C0037221
Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.

Recent clinical studies

Etiology

Kapur RP, Cole B, Zhang M, Lin J, Fligner CL
Pediatr Dev Pathol 2013 May-Jun;16(3):191-200. Epub 2013 Feb 25 doi: 10.2350/12-12-1281-OA.1. PMID: 23438674
Gelb BD
Curr Opin Cardiol 1997 May;12(3):321-8. doi: 10.1097/00001573-199705000-00014. PMID: 9243090

Diagnosis

Ganapathi M, Buchovecky CM, Cristo F, Ahimaz P, Ruzal-Shapiro C, Wou K, Inácio JM, Iglesias A, Belo JA, Jobanputra V
Cold Spring Harb Mol Case Stud 2022 Dec;8(7) Epub 2022 Dec 28 doi: 10.1101/mcs.a006248. PMID: 36316122Free PMC Article
Le Fevre A, Baptista J, Ellard S, Overton T, Oliver A, Gradhand E, Scurr I
Eur J Med Genet 2020 Feb;63(2):103657. Epub 2019 Apr 23 doi: 10.1016/j.ejmg.2019.04.014. PMID: 31026592

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