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Congenital heart defects, multiple types, 8, with or without heterotaxy(CHTD8)

MedGen UID:
1794252
Concept ID:
C5562042
Disease or Syndrome
Synonyms: CHTD8; CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
 
Gene (location): SMAD2 (18q21.1)
 
Monarch Initiative: MONDO:0859213
OMIM®: 619657

Definition

Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018). [from OMIM]

Clinical features

From HPO
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Bilateral single transverse palmar creases
MedGen UID:
354661
Concept ID:
C1862095
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
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.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
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.
Partial anomalous pulmonary venous return
MedGen UID:
450995
Concept ID:
C0158634
Congenital Abnormality
A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.
Thoracic aortic aneurysm
MedGen UID:
56525
Concept ID:
C0162872
Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
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).
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).
Dextrotransposition of the great arteries
MedGen UID:
758887
Concept ID:
C3531771
Congenital Abnormality
A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.
Left superior vena cava draining directly to the left atrium
MedGen UID:
868828
Concept ID:
C4023238
Congenital Abnormality
A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.
Anomalous pulmonary venous return
MedGen UID:
1641363
Concept ID:
C4551905
Congenital Abnormality
A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Isomerism
MedGen UID:
1634559
Concept ID:
C4554010
Congenital Abnormality
Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
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.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Subglottic stenosis
MedGen UID:
68668
Concept ID:
C0238441
Anatomical Abnormality
Congenital laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Anatomical Abnormality
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Asplenia
MedGen UID:
108652
Concept ID:
C0600031
Congenital Abnormality
Absence (aplasia) of the spleen.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Solitary median maxillary central incisor syndrome
MedGen UID:
326686
Concept ID:
C1840235
Congenital Abnormality
A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

Professional guidelines

PubMed

Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW
Ann Am Thorac Soc 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963Free PMC Article
Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254

Recent clinical studies

Etiology

Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
Pelayo JC, Lo A
Pediatr Ann 2016 Jul 1;45(7):e247-50. doi: 10.3928/00904481-20160602-01. PMID: 27403672
Harrison MJ, Shapiro AJ, Kennedy MP
Paediatr Respir Rev 2016 Mar;18:25-32. Epub 2015 Sep 26 doi: 10.1016/j.prrv.2015.09.003. PMID: 26545972
Hines MH
Semin Pediatr Surg 2013 Nov;22(4):174-8. Epub 2013 Oct 14 doi: 10.1053/j.sempedsurg.2013.10.004. PMID: 24331090
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Diagnosis

Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
Harrison MJ, Shapiro AJ, Kennedy MP
Paediatr Respir Rev 2016 Mar;18:25-32. Epub 2015 Sep 26 doi: 10.1016/j.prrv.2015.09.003. PMID: 26545972
Qazi Q, Kassner EG
J Med Genet 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. PMID: 3050097Free PMC Article

Therapy

Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM
Hum Mol Genet 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065. PMID: 37158461Free PMC Article
Izumi G, Takeda A, Yamazawa H, Kato N, Kato H, Tachibana T, Sagae O, Yahagi R, Maeno M, Hoshino K, Saito H
Heart Vessels 2022 Oct;37(10):1792-1800. Epub 2022 Apr 25 doi: 10.1007/s00380-022-02074-3. PMID: 35469049
Gabriel GC, Lo CW
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):90-96. Epub 2020 Jan 30 doi: 10.1002/ajmg.c.31768. PMID: 31999049Free PMC Article
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
Tan YW, Khalil A, Kakade M, Carvalho JS, Bradley S, Cleeve S, Giuliani S
J Pediatr 2016 Apr;171:153-62.e1-3. Epub 2016 Feb 8 doi: 10.1016/j.jpeds.2015.12.074. PMID: 26868865

Prognosis

Xia H, Huang X, Deng S, Xu H, Yang Y, Liu X, Yuan L, Deng H
PLoS One 2021;16(6):e0252786. Epub 2021 Jun 16 doi: 10.1371/journal.pone.0252786. PMID: 34133440Free PMC Article
Batouty NM, Sobh DM, Gadelhak B, Sobh HM, Mahmoud W, Tawfik AM
Radiol Med 2020 Mar;125(3):237-246. Epub 2019 Dec 10 doi: 10.1007/s11547-019-01114-9. PMID: 31823296
Moore JP, Aboulhosn JA
Card Electrophysiol Clin 2017 Jun;9(2):167-175. Epub 2017 Mar 14 doi: 10.1016/j.ccep.2017.02.001. PMID: 28457233
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Clinical prediction guides

Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ
Chest 2024 May;165(5):1070-1081. Epub 2023 Dec 9 doi: 10.1016/j.chest.2023.12.005. PMID: 38072392Free PMC Article
Wang CC, Wu MH, Wu ET, Lu F, Chen SJ
Pediatr Pulmonol 2022 Sep;57(9):2074-2081. Epub 2022 Jun 2 doi: 10.1002/ppul.25981. PMID: 35582940
Xia H, Huang X, Deng S, Xu H, Yang Y, Liu X, Yuan L, Deng H
PLoS One 2021;16(6):e0252786. Epub 2021 Jun 16 doi: 10.1371/journal.pone.0252786. PMID: 34133440Free PMC Article
Gabriel GC, Lo CW
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):90-96. Epub 2020 Jan 30 doi: 10.1002/ajmg.c.31768. PMID: 31999049Free PMC Article
Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, Versacci P, Dallapiccola B, Tartaglia M, Marino B
Clin Genet 2019 Feb;95(2):268-276. Epub 2018 May 23 doi: 10.1111/cge.13375. PMID: 29722020

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
van Velzen CL, Ket JCF, van de Ven PM, Blom NA, Haak MC
Int J Gynaecol Obstet 2018 Feb;140(2):137-145. Epub 2017 Nov 22 doi: 10.1002/ijgo.12373. PMID: 29094357
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Tan YW, Khalil A, Kakade M, Carvalho JS, Bradley S, Cleeve S, Giuliani S
J Pediatr 2016 Apr;171:153-62.e1-3. Epub 2016 Feb 8 doi: 10.1016/j.jpeds.2015.12.074. PMID: 26868865

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