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Double outlet right ventricle(DORV)

MedGen UID:
41649
Concept ID:
C0013069
Congenital Abnormality
Synonym: DORV
SNOMED CT: Double outlet right ventricle (7484005); Origin of both great vessels from right ventricle (7484005); Transposition of great vessels, interventricular septal defect AND overriding aorta (7484005); DORV - Double outlet right ventricle (7484005)
Modes of inheritance:
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
 
HPO: HP:0001719
Monarch Initiative: MONDO:0018089
OMIM®: 217095; 600584; 602880; 603693
Orphanet: ORPHA3426

Definition

Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDouble outlet right ventricle
Follow this link to review classifications for Double outlet right ventricle in Orphanet.

Conditions with this feature

Complete trisomy 21 syndrome
MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Recombinant 8 syndrome
MedGen UID:
167070
Concept ID:
C0795822
Disease or Syndrome
Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations (Sujansky et al., 1993, summary by Graw et al., 2000).
Heterotaxy, visceral, 2, autosomal
MedGen UID:
237904
Concept ID:
C1415817
Disease or Syndrome
The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808.
Fallot complex-intellectual disability-growth delay syndrome
MedGen UID:
322025
Concept ID:
C1832735
Disease or Syndrome
A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.
Heterotaxy, visceral, 1, X-linked
MedGen UID:
336609
Concept ID:
C1844020
Disease or Syndrome
Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35.
Oculofaciocardiodental syndrome
MedGen UID:
337547
Concept ID:
C1846265
Disease or Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.\n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.
Frank-Ter Haar syndrome
MedGen UID:
383652
Concept ID:
C1855305
Disease or Syndrome
The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).
Genito-palato-cardiac syndrome
MedGen UID:
341558
Concept ID:
C1856466
Disease or Syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
Conotruncal heart malformations
MedGen UID:
341803
Concept ID:
C1857586
Disease or Syndrome
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Congenital heart defects, multiple types, 6
MedGen UID:
462571
Concept ID:
C3151221
Congenital Abnormality
Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Heterotaxy, visceral, 5, autosomal
MedGen UID:
501198
Concept ID:
C3495537
Congenital Abnormality
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Heterotaxy, visceral, 6, autosomal
MedGen UID:
766590
Concept ID:
C3553676
Disease or Syndrome
Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis (Perles et al., 2012).
Peroxisome biogenesis disorder 12A (Zellweger)
MedGen UID:
766916
Concept ID:
C3554002
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.
Aortic valve disease 1
MedGen UID:
854610
Concept ID:
C3887892
Disease or Syndrome
Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.
PMP22-RAI1 contiguous gene duplication syndrome
MedGen UID:
894862
Concept ID:
C4225255
Disease or Syndrome
Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A; 118220), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS; 610883), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).
Heterotaxy, visceral, 8, autosomal
MedGen UID:
934635
Concept ID:
C4310668
Disease or Syndrome
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).
Ritscher-Schinzel syndrome 1
MedGen UID:
1634646
Concept ID:
C4551776
Disease or Syndrome
Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, low-set ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present.
Congenital heart defects, multiple types, 5
MedGen UID:
1636547
Concept ID:
C4693563
Disease or Syndrome
Cardiac, facial, and digital anomalies with developmental delay
MedGen UID:
1648330
Concept ID:
C4748484
Disease or Syndrome
CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018).
Vertebral anomalies and variable endocrine and T-cell dysfunction
MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).
Ciliary dyskinesia, primary, 39
MedGen UID:
1648363
Concept ID:
C4748841
Disease or Syndrome
Primary ciliary dyskinesia-39 (CILD39) is an autosomal recessive disorder characterized by chronic sinopulmonary infections beginning soon after birth and laterality defects in about 50% of patients. Although patient nasal ciliary samples have normal structure, detailed studies may show ciliary kinetic defects in some patients (summary by Bonnefoy et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Intellectual developmental disorder with cardiac defects and dysmorphic facies
MedGen UID:
1675627
Concept ID:
C5193024
Disease or Syndrome
IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018).
Holoprosencephaly 13, X-linked
MedGen UID:
1714826
Concept ID:
C5393308
Disease or Syndrome
X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019). For a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Vertebral, cardiac, renal, and limb defects syndrome 3
MedGen UID:
1709064
Concept ID:
C5394250
Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia (Szot et al., 2020). For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660).
Multiple congenital anomalies-neurodevelopmental syndrome, x-linked
MedGen UID:
1788942
Concept ID:
C5542341
Disease or Syndrome
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).
VISS SYNDROME
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
MedGen UID:
1794252
Concept ID:
C5562042
Disease or Syndrome
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).
Heterotaxy, visceral, 12, autosomal
MedGen UID:
1803695
Concept ID:
C5676898
Congenital Abnormality
Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Recent clinical studies

Etiology

Stoica S, Kreuzer M, Dorobantu DM, Kostolny M, Nosal M, Hosseinpour AR, Martinez FL, Generali T, Hasan A, Mair R, Hazekamp M
J Thorac Cardiovasc Surg 2022 Nov;164(5):1249-1260. Epub 2022 Jul 20 doi: 10.1016/j.jtcvs.2022.05.047. PMID: 36028361
Karmegaraj B, Kumar S, Srimurugan B, Sudhakar A, Simpson JM, Vaidyanathan B
Ultrasound Obstet Gynecol 2021 Mar;57(3):423-430. Epub 2021 Feb 11 doi: 10.1002/uog.21988. PMID: 32022380
Lu T, Li J, Hu J, Huang C, Tan L, Wu Q, Wu Z
J Thorac Cardiovasc Surg 2020 Jun;159(6):2397-2403. Epub 2019 Aug 24 doi: 10.1016/j.jtcvs.2019.07.084. PMID: 31564538
Goo HW
Int J Cardiovasc Imaging 2018 Dec;34(12):1997-2009. Epub 2018 Jul 26 doi: 10.1007/s10554-018-1422-1. PMID: 30051301
Pang KJ, Meng H, Hu SS, Wang H, Hsi D, Hua ZD, Pan XB, Li SJ
Tex Heart Inst J 2017 Aug;44(4):245-251. Epub 2017 Aug 1 doi: 10.14503/THIJ-16-5759. PMID: 28878577Free PMC Article

Diagnosis

Liang J, Lu B, Zhao X, Wang J, Zhao D, Zhang G, Zhu B, Ma Q, Pan G, Li D
Med Biol Eng Comput 2022 Oct;60(10):3029-3040. Epub 2022 Sep 2 doi: 10.1007/s11517-022-02660-7. PMID: 36053430
Yilmaz O, Celik OY
J Clin Ultrasound 2021 Mar;49(3):262-264. Epub 2020 Sep 2 doi: 10.1002/jcu.22908. PMID: 32880971
Karmegaraj B, Kumar S, Srimurugan B, Sudhakar A, Simpson JM, Vaidyanathan B
Ultrasound Obstet Gynecol 2021 Mar;57(3):423-430. Epub 2021 Feb 11 doi: 10.1002/uog.21988. PMID: 32022380
Ma M, Li Y, Chen R, Huang C, Mao Y, Zhao B
Int J Cardiovasc Imaging 2020 Nov;36(11):2165-2172. Epub 2020 Jul 8 doi: 10.1007/s10554-020-01932-3. PMID: 32642877
Goo HW
Int J Cardiovasc Imaging 2018 Dec;34(12):1997-2009. Epub 2018 Jul 26 doi: 10.1007/s10554-018-1422-1. PMID: 30051301

Therapy

Villemain O, Bonnet D, Houyel L, Vergnat M, Ladouceur M, Lambert V, Jalal Z, Vouhé P, Belli E
Semin Thorac Cardiovasc Surg Spring 2016;28(1):69-77. Epub 2016 May 11 doi: 10.1053/j.semtcvs.2016.01.007. PMID: 27568139
Karev E, Stovpyuk OF
J Clin Ultrasound 2022 Oct;50(8):1151-1165. doi: 10.1002/jcu.23319. PMID: 36218204
Lu T, Li J, Hu J, Huang C, Tan L, Wu Q, Wu Z
J Thorac Cardiovasc Surg 2020 Jun;159(6):2397-2403. Epub 2019 Aug 24 doi: 10.1016/j.jtcvs.2019.07.084. PMID: 31564538
Pang KJ, Meng H, Hu SS, Wang H, Hsi D, Hua ZD, Pan XB, Li SJ
Tex Heart Inst J 2017 Aug;44(4):245-251. Epub 2017 Aug 1 doi: 10.14503/THIJ-16-5759. PMID: 28878577Free PMC Article
Li S, Ma K, Hu S, Hua Z, Yang K, Yan J, Chen Q
J Thorac Cardiovasc Surg 2014 Sep;148(3):817-24. Epub 2014 Jun 13 doi: 10.1016/j.jtcvs.2014.06.020. PMID: 24997522

Prognosis

Liang J, Lu B, Zhao X, Wang J, Zhao D, Zhang G, Zhu B, Ma Q, Pan G, Li D
Med Biol Eng Comput 2022 Oct;60(10):3029-3040. Epub 2022 Sep 2 doi: 10.1007/s11517-022-02660-7. PMID: 36053430
Karmegaraj B, Kumar S, Srimurugan B, Sudhakar A, Simpson JM, Vaidyanathan B
Ultrasound Obstet Gynecol 2021 Mar;57(3):423-430. Epub 2021 Feb 11 doi: 10.1002/uog.21988. PMID: 32022380
Ma M, Li Y, Chen R, Huang C, Mao Y, Zhao B
Int J Cardiovasc Imaging 2020 Nov;36(11):2165-2172. Epub 2020 Jul 8 doi: 10.1007/s10554-020-01932-3. PMID: 32642877
Lu T, Li J, Hu J, Huang C, Tan L, Wu Q, Wu Z
J Thorac Cardiovasc Surg 2020 Jun;159(6):2397-2403. Epub 2019 Aug 24 doi: 10.1016/j.jtcvs.2019.07.084. PMID: 31564538
Goo HW
Int J Cardiovasc Imaging 2018 Dec;34(12):1997-2009. Epub 2018 Jul 26 doi: 10.1007/s10554-018-1422-1. PMID: 30051301

Clinical prediction guides

Karev E, Stovpyuk OF
J Clin Ultrasound 2022 Oct;50(8):1151-1165. doi: 10.1002/jcu.23319. PMID: 36218204
Liang J, Lu B, Zhao X, Wang J, Zhao D, Zhang G, Zhu B, Ma Q, Pan G, Li D
Med Biol Eng Comput 2022 Oct;60(10):3029-3040. Epub 2022 Sep 2 doi: 10.1007/s11517-022-02660-7. PMID: 36053430
Stoica S, Kreuzer M, Dorobantu DM, Kostolny M, Nosal M, Hosseinpour AR, Martinez FL, Generali T, Hasan A, Mair R, Hazekamp M
J Thorac Cardiovasc Surg 2022 Nov;164(5):1249-1260. Epub 2022 Jul 20 doi: 10.1016/j.jtcvs.2022.05.047. PMID: 36028361
Karmegaraj B, Kumar S, Srimurugan B, Sudhakar A, Simpson JM, Vaidyanathan B
Ultrasound Obstet Gynecol 2021 Mar;57(3):423-430. Epub 2021 Feb 11 doi: 10.1002/uog.21988. PMID: 32022380
Ma M, Li Y, Chen R, Huang C, Mao Y, Zhao B
Int J Cardiovasc Imaging 2020 Nov;36(11):2165-2172. Epub 2020 Jul 8 doi: 10.1007/s10554-020-01932-3. PMID: 32642877

Recent systematic reviews

Yuan SM
J Coll Physicians Surg Pak 2019 Nov;29(11):1087-1091. doi: 10.29271/jcpsp.2019.11.1087. PMID: 31659968

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