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Persistent left superior vena cava

MedGen UID:
75586
Concept ID:
C0265931
Congenital Abnormality
Synonyms: Left Sided Superior Vena Cava; Left-Sided Superior Vena Cava; LSVC, Persistent; Persistent Left Superior Vena Cava; Persistent LSVC; PLSVC
SNOMED CT: LSVC - Persistent left superior vena cava (77978002); Persistent left superior vena cava (77978002)
 
HPO: HP:0005301

Definition

A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. [from HPO]

Conditions with this feature

Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Marfanoid habitus with situs inversus
MedGen UID:
323046
Concept ID:
C1836994
Disease or Syndrome
Meacham syndrome
MedGen UID:
373234
Concept ID:
C1837026
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.
Atrial septal defect 1
MedGen UID:
349495
Concept ID:
C1862389
Congenital Abnormality
Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death (summary by Benson et al., 1998). Genetic Heterogeneity of Atrial Septal Defect The ASD1 locus has been mapped to chromosome 5p. Other forms of atrial septal defect that are associated with other congenital heart disease but no conduction defects or noncardiac abnormalities include ASD2 (607941), caused by mutation in the GATA4 gene (600576), and ASD4 (611363), caused by mutation in the TBX20 gene (606061). ASD3 (614089) and ASD5 (612794), in which atrial septal defect is not associated with other cardiac abnormalities, are caused by mutation in the MYH6 (160710) and ACTC1 (102540) genes, respectively. ASD6 (613087), in which atrial septal defect may be associated with aneurysm of the interatrial septum and cardiac arrhythmias, is caused by mutation in the TLL1 gene (606742). ASD7 (108900), in which ASD is often associated with atrioventricular conduction defects, is caused by mutation in the NKX2-5 gene (600584). ASD8 (614433), in which ASD may be associated with other cardiac anomalies, is caused by mutation in the CITED2 gene (602937). ASD9 (614475) is caused by mutation in the GATA6 gene (601656). Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with ASDs.
VACTERL association, X-linked, with or without hydrocephalus
MedGen UID:
419019
Concept ID:
C2931228
Disease or Syndrome
VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
Primary ciliary dyskinesia 20
MedGen UID:
761920
Concept ID:
C3540844
Disease or Syndrome
CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Congenital heart defects, multiple types, 3
MedGen UID:
767108
Concept ID:
C3554194
Disease or Syndrome
Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Structural heart defects and renal anomalies syndrome
MedGen UID:
1387412
Concept ID:
C4479549
Disease or Syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
MedGen UID:
1674629
Concept ID:
C5193125
Disease or Syndrome
ATN1-related neurodevelopmental disorder (ATN1-NDD) is characterized by developmental delay / intellectual disability. Other neurologic findings can include infantile hypotonia, brain malformations, epilepsy, cortical visual impairment, and hearing loss. Feeding difficulties, present in some individuals, may require gastrostomy support when severe; similarly, respiratory issues, present in some, may require respiratory support after the neonatal period. Distinctive facial features and hand and foot differences are common. Other variable findings can include cardiac malformations and congenital anomalies of the kidney and urinary tract (CAKUT). To date, 18 individuals with ATN1-NDD have been identified.
Mitochondrial complex 3 deficiency, nuclear type 10
MedGen UID:
1719382
Concept ID:
C5394051
Disease or Syndrome
AMED syndrome, digenic
MedGen UID:
1754257
Concept ID:
C5436906
Disease or Syndrome
AMED syndrome (AMEDS) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by Oka et al., 2020). For a discussion of genetic heterogeneity of bone marrow failure syndrome (BMFS), see BMFS1 (614675).
Alzahrani-Kuwahara syndrome
MedGen UID:
1782127
Concept ID:
C5543274
Disease or Syndrome
Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by Alzahrani et al., 2020).
DEGCAGS syndrome
MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella 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).

Professional guidelines

PubMed

Keleş A, Yılmaz O, Dağdeviren G, Çelik ÖY, Yücel A, Şahin D
Fetal Pediatr Pathol 2022 Aug;41(4):592-602. Epub 2021 Jun 9 doi: 10.1080/15513815.2021.1933662. PMID: 34106033
Bornaun H, Süzen Çaypınar S, Gedik Özköse Z, Topbaş NF, Behram M
J Ultrasound Med 2021 Dec;40(12):2721-2726. Epub 2021 Mar 3 doi: 10.1002/jum.15669. PMID: 33656187
Cinteză EE, Filip C, Duică G, Nicolae G, Nicolescu AM, Bălgrădean M
Rom J Morphol Embryol 2019;60(1):33-40. PMID: 31263825

Recent clinical studies

Etiology

Lopes KRM, Bartsota M, Doughty V, Carvalho JS
Ultrasound Obstet Gynecol 2022 Nov;60(5):640-645. doi: 10.1002/uog.24966. PMID: 35656845Free PMC Article
Cao Q, Zhen L, Pan M, Han J, Yang X, Xu LL, Li DZ
Taiwan J Obstet Gynecol 2022 May;61(3):459-463. doi: 10.1016/j.tjog.2022.03.011. PMID: 35595438
Esin D, Aslan Çetin B, Şenol G, Selçuki NFT, Gedik Özköse Z, Acar Z, Yüksel MA
J Gynecol Obstet Hum Reprod 2022 Apr;51(4):102332. Epub 2022 Feb 2 doi: 10.1016/j.jogoh.2022.102332. PMID: 35123124
Keleş A, Yılmaz O, Dağdeviren G, Çelik ÖY, Yücel A, Şahin D
Fetal Pediatr Pathol 2022 Aug;41(4):592-602. Epub 2021 Jun 9 doi: 10.1080/15513815.2021.1933662. PMID: 34106033
Ramakrishnan D, Chidambarathanu S, Murli L, Micheal J, Jagadeesh S, Suresh I, Seshadri S
Fetal Pediatr Pathol 2017 Aug;36(4):304-310. Epub 2017 Jun 1 doi: 10.1080/15513815.2017.1324546. PMID: 28569558

Diagnosis

Durand I, Hazelzet T, Gillibert A, Parrod C, David N, El Youssef F, Brehin AC, Barre E
Arch Cardiovasc Dis 2022 Jun-Jul;115(6-7):335-347. Epub 2022 May 14 doi: 10.1016/j.acvd.2022.03.005. PMID: 35660361
Lopes KRM, Bartsota M, Doughty V, Carvalho JS
Ultrasound Obstet Gynecol 2022 Nov;60(5):640-645. doi: 10.1002/uog.24966. PMID: 35656845Free PMC Article
Esin D, Aslan Çetin B, Şenol G, Selçuki NFT, Gedik Özköse Z, Acar Z, Yüksel MA
J Gynecol Obstet Hum Reprod 2022 Apr;51(4):102332. Epub 2022 Feb 2 doi: 10.1016/j.jogoh.2022.102332. PMID: 35123124
Keleş A, Yılmaz O, Dağdeviren G, Çelik ÖY, Yücel A, Şahin D
Fetal Pediatr Pathol 2022 Aug;41(4):592-602. Epub 2021 Jun 9 doi: 10.1080/15513815.2021.1933662. PMID: 34106033
Ramakrishnan D, Chidambarathanu S, Murli L, Micheal J, Jagadeesh S, Suresh I, Seshadri S
Fetal Pediatr Pathol 2017 Aug;36(4):304-310. Epub 2017 Jun 1 doi: 10.1080/15513815.2017.1324546. PMID: 28569558

Therapy

Akhtar Z, Sohal M, Starck CT, Mazzone P, Melillo F, Gonzalez E, Al-Razzo O, Richter S, Breitenstein A, Steffel J, Rinaldi CA, Mehta V, Zuberi Z, Zaidi A, Gallagher MM
J Cardiovasc Electrophysiol 2022 Jan;33(1):102-108. Epub 2021 Nov 22 doi: 10.1111/jce.15290. PMID: 34783107
Steckiewicz R, Stolarz P, Marchel M, Michalak M, Konecki D, Szczerba E, Kowara M, Grabowska-Derlatka L, Grabowski M
Folia Morphol (Warsz) 2022;81(4):1066-1071. Epub 2021 Oct 26 doi: 10.5603/FM.a2021.0108. PMID: 34699053
Rana IA, Hassan Nuri MMU
J Pak Med Assoc 2019 Feb;69(2):264-266. PMID: 30804598
Aguilar JM, Rodríguez-Serrano F, Ferreiro-Marzal A, Esteban-Molina M, Gabucio A, García E, Boni L, Garrido JM
Arch Cardiovasc Dis 2019 Feb;112(2):135-143. Epub 2018 Sep 1 doi: 10.1016/j.acvd.2018.05.007. PMID: 30181052
Giuliani-Poncini C, Perez MH, Cotting J, Hurni M, Sekarski N, Pfammatter JP, Di Bernardo S
Pediatr Cardiol 2014 Jan;35(1):71-6. Epub 2013 Jul 3 doi: 10.1007/s00246-013-0743-z. PMID: 23821295

Prognosis

Haleem SM
J Coll Physicians Surg Pak 2022 Aug;32(8):S104-S106. doi: 10.29271/jcpsp.2022.Supp2.S104. PMID: 36210662
Esin D, Aslan Çetin B, Şenol G, Selçuki NFT, Gedik Özköse Z, Acar Z, Yüksel MA
J Gynecol Obstet Hum Reprod 2022 Apr;51(4):102332. Epub 2022 Feb 2 doi: 10.1016/j.jogoh.2022.102332. PMID: 35123124
Curnis A, Aboelhassan M, Cerini M, Salghetti F, Fabbricatore D, Maiolo V, Arabia G, Giacopelli D, Fouad DA, Bontempi L
J Cardiovasc Electrophysiol 2021 May;32(5):1407-1410. Epub 2021 Apr 16 doi: 10.1111/jce.15021. PMID: 33783892
Nair V, Yusuf K, Yu W, AlAwad H, Paul K, Al Awad E
Pediatr Dev Pathol 2017 Mar-Apr;20(2):182-185. Epub 2017 Jan 25 doi: 10.1177/1093526616686008. PMID: 28326958
Giuliani-Poncini C, Perez MH, Cotting J, Hurni M, Sekarski N, Pfammatter JP, Di Bernardo S
Pediatr Cardiol 2014 Jan;35(1):71-6. Epub 2013 Jul 3 doi: 10.1007/s00246-013-0743-z. PMID: 23821295

Clinical prediction guides

Chen J, Qiu Y, Chen H, Jin C, Wang Y, Ju W, Yang G, Gu K, Liu H, Wang Z, Jiang X, Li M, Wang D, Chen M
Pacing Clin Electrophysiol 2023 Nov;46(11):1379-1386. Epub 2023 Nov 9 doi: 10.1111/pace.14872. PMID: 37943014
Haleem SM
J Coll Physicians Surg Pak 2022 Aug;32(8):S104-S106. doi: 10.29271/jcpsp.2022.Supp2.S104. PMID: 36210662
Esin D, Aslan Çetin B, Şenol G, Selçuki NFT, Gedik Özköse Z, Acar Z, Yüksel MA
J Gynecol Obstet Hum Reprod 2022 Apr;51(4):102332. Epub 2022 Feb 2 doi: 10.1016/j.jogoh.2022.102332. PMID: 35123124
Curnis A, Aboelhassan M, Cerini M, Salghetti F, Fabbricatore D, Maiolo V, Arabia G, Giacopelli D, Fouad DA, Bontempi L
J Cardiovasc Electrophysiol 2021 May;32(5):1407-1410. Epub 2021 Apr 16 doi: 10.1111/jce.15021. PMID: 33783892
Tyrak KW, Holda J, Holda MK, Koziej M, Piatek K, Klimek-Piotrowska W
Cardiovasc J Afr 2017 May 23;28(3):e1-e4. doi: 10.5830/CVJA-2016-084. PMID: 28759082Free PMC Article

Recent systematic reviews

Shafi I, Hassan AAI, Akers KG, Bashir R, Alkhouli M, Weinberger JJ, Abidov A
Int J Cardiol 2020 Sep 15;315:29-35. Epub 2020 May 8 doi: 10.1016/j.ijcard.2020.05.017. PMID: 32434672
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Gustapane S, Leombroni M, Khalil A, Giacci F, Marrone L, Bascietto F, Rizzo G, Acharya G, Liberati M, D'Antonio F
Ultrasound Obstet Gynecol 2016 Dec;48(6):701-708. Epub 2016 Nov 1 doi: 10.1002/uog.15914. PMID: 26970258

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