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Conotruncal defect

MedGen UID:
342828
Concept ID:
C1853238
Congenital Abnormality; Finding
Synonyms: Conotruncal defects; Conotruncal heart defects
 
HPO: HP:0001710

Definition

A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. [from HPO]

Conditions with this feature

Isotretinoin-like syndrome
MedGen UID:
96600
Concept ID:
C0432364
Disease or Syndrome
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out.
Kleefstra syndrome 1
MedGen UID:
208639
Concept ID:
C0795833
Disease or Syndrome
Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-normal range. While most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed; these include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy / febrile seizures, psychiatric disorders, and extreme apathy or catatonic-like features after puberty.

Professional guidelines

PubMed

Li TG, Su XR, Wu WR, Zhang WD, Ma B
J Clin Ultrasound 2023 Sep;51(7):1166-1171. Epub 2023 Mar 28 doi: 10.1002/jcu.23454. PMID: 36976169
Qiao F, Wang Y, Zhang C, Zhou R, Wu Y, Wang C, Meng L, Mao P, Cheng Q, Luo C, Hu P, Xu Z
Ultrasound Obstet Gynecol 2021 Sep;58(3):377-387. doi: 10.1002/uog.23532. PMID: 33142350
Razon Y, Berant M, Fogelman R, Amir G, Birk E
J Am Soc Echocardiogr 2014 Dec;27(12):1352-8. Epub 2014 Sep 17 doi: 10.1016/j.echo.2014.08.003. PMID: 25240492

Recent clinical studies

Etiology

Hascoët S, Bentham JR, Giugno L, Betrián-Blasco P, Kempny A, Houeijeh A, Baho H, Sharma SR, Jones MI, Biernacka EK, Combes N, Georgiev S, Bouvaist H, Martins JD, Kantzis M, Turner M, Schubert S, Jalal Z, Butera G, Malekzadeh-Milani S, Valdeolmillos E, Karsenty C, Ödemiş E, Aldebert P, Haas NA, Khatib I, Wåhlander H, Gaio G, Mendoza A, Arif S, Castaldi B, Dohlen G, Carere RG, Del Cerro-Marin MJ, Kitzmüller E, Hermuzi A, Carminati M, Guérin P, Tengler A, Fraisse A; EUROPULMS3 investigators
Eur Heart J 2024 Jan 14;45(3):198-210. doi: 10.1093/eurheartj/ehad663. PMID: 37874971
Harvey DC, Baer RJ, Bandoli G, Chambers CD, Jelliffe-Pawlowski LL, Kumar SR
J Am Heart Assoc 2022 Jan 18;11(2):e022175. Epub 2022 Jan 11 doi: 10.1161/JAHA.121.022175. PMID: 35014860Free PMC Article
Li R, Fu F, Yu Q, Wang D, Jing X, Zhang Y, Li F, Li F, Han J, Pan M, Zhen L, Li D, Liao C
Clin Genet 2020 Sep;98(3):215-230. Epub 2020 Jun 9 doi: 10.1111/cge.13774. PMID: 32410215
Wang Q, Zhao Y, Han L, Zhang Y, Ge S, He Y
Echocardiography 2017 Dec;34(12):1842-1851. doi: 10.1111/echo.13701. PMID: 29287135
Gelb BD, Towbin JA, McCabe ER, Sujansky E
Am J Med Genet 1991 Sep 15;40(4):471-6. doi: 10.1002/ajmg.1320400420. PMID: 1746613

Diagnosis

Hascoët S, Bentham JR, Giugno L, Betrián-Blasco P, Kempny A, Houeijeh A, Baho H, Sharma SR, Jones MI, Biernacka EK, Combes N, Georgiev S, Bouvaist H, Martins JD, Kantzis M, Turner M, Schubert S, Jalal Z, Butera G, Malekzadeh-Milani S, Valdeolmillos E, Karsenty C, Ödemiş E, Aldebert P, Haas NA, Khatib I, Wåhlander H, Gaio G, Mendoza A, Arif S, Castaldi B, Dohlen G, Carere RG, Del Cerro-Marin MJ, Kitzmüller E, Hermuzi A, Carminati M, Guérin P, Tengler A, Fraisse A; EUROPULMS3 investigators
Eur Heart J 2024 Jan 14;45(3):198-210. doi: 10.1093/eurheartj/ehad663. PMID: 37874971
Li TG, Su XR, Wu WR, Zhang WD, Ma B
J Clin Ultrasound 2023 Sep;51(7):1166-1171. Epub 2023 Mar 28 doi: 10.1002/jcu.23454. PMID: 36976169
Harvey DC, Baer RJ, Bandoli G, Chambers CD, Jelliffe-Pawlowski LL, Kumar SR
J Am Heart Assoc 2022 Jan 18;11(2):e022175. Epub 2022 Jan 11 doi: 10.1161/JAHA.121.022175. PMID: 35014860Free PMC Article
Li R, Fu F, Yu Q, Wang D, Jing X, Zhang Y, Li F, Li F, Han J, Pan M, Zhen L, Li D, Liao C
Clin Genet 2020 Sep;98(3):215-230. Epub 2020 Jun 9 doi: 10.1111/cge.13774. PMID: 32410215
Razon Y, Berant M, Fogelman R, Amir G, Birk E
J Am Soc Echocardiogr 2014 Dec;27(12):1352-8. Epub 2014 Sep 17 doi: 10.1016/j.echo.2014.08.003. PMID: 25240492

Therapy

Hascoët S, Bentham JR, Giugno L, Betrián-Blasco P, Kempny A, Houeijeh A, Baho H, Sharma SR, Jones MI, Biernacka EK, Combes N, Georgiev S, Bouvaist H, Martins JD, Kantzis M, Turner M, Schubert S, Jalal Z, Butera G, Malekzadeh-Milani S, Valdeolmillos E, Karsenty C, Ödemiş E, Aldebert P, Haas NA, Khatib I, Wåhlander H, Gaio G, Mendoza A, Arif S, Castaldi B, Dohlen G, Carere RG, Del Cerro-Marin MJ, Kitzmüller E, Hermuzi A, Carminati M, Guérin P, Tengler A, Fraisse A; EUROPULMS3 investigators
Eur Heart J 2024 Jan 14;45(3):198-210. doi: 10.1093/eurheartj/ehad663. PMID: 37874971
Han J, Li T, Wu W, Zhang Y, Liu X, Gu X, Sun L, Gao S, He Y
J Ultrasound Med 2020 Dec;39(12):2405-2412. Epub 2020 Jun 3 doi: 10.1002/jum.15362. PMID: 32491276
Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ
Am J Med Genet A 2005 Sep 15;138(1):21-6. doi: 10.1002/ajmg.a.30924. PMID: 16100725
Shaw GM, Nelson V, Iovannisci DM, Finnell RH, Lammer EJ
Am J Epidemiol 2003 Mar 15;157(6):475-84. doi: 10.1093/aje/kwg013. PMID: 12631536
Shaw GM, Wasserman CR, O'Malley CD, Nelson V, Jackson RJ
Epidemiology 1999 Jan;10(1):60-6. PMID: 9888281

Prognosis

Li TG, Su XR, Wu WR, Zhang WD, Ma B
J Clin Ultrasound 2023 Sep;51(7):1166-1171. Epub 2023 Mar 28 doi: 10.1002/jcu.23454. PMID: 36976169
Hadeed K, Guitarte A, Briot J, Dulac Y, Alacoque X, Acar P, Karsenty C
Pediatr Radiol 2021 Oct;51(11):1983-1990. Epub 2021 Jun 15 doi: 10.1007/s00247-021-05110-y. PMID: 34129069
Kumar V, Singh RS, Thingnam SKS, Mishra AK, Jaswal V
J Card Surg 2019 May;34(5):300-304. Epub 2019 Mar 21 doi: 10.1111/jocs.14023. PMID: 30900319
Razon Y, Berant M, Fogelman R, Amir G, Birk E
J Am Soc Echocardiogr 2014 Dec;27(12):1352-8. Epub 2014 Sep 17 doi: 10.1016/j.echo.2014.08.003. PMID: 25240492
Yang SG, Novello R, Nicolson S, Steven J, Gaynor JW, Spray TL, Rychik J
Echocardiography 2000 Oct;17(7):681-4. doi: 10.1046/j.1540-8175.2000.00681.x. PMID: 11107205

Clinical prediction guides

Hascoët S, Bentham JR, Giugno L, Betrián-Blasco P, Kempny A, Houeijeh A, Baho H, Sharma SR, Jones MI, Biernacka EK, Combes N, Georgiev S, Bouvaist H, Martins JD, Kantzis M, Turner M, Schubert S, Jalal Z, Butera G, Malekzadeh-Milani S, Valdeolmillos E, Karsenty C, Ödemiş E, Aldebert P, Haas NA, Khatib I, Wåhlander H, Gaio G, Mendoza A, Arif S, Castaldi B, Dohlen G, Carere RG, Del Cerro-Marin MJ, Kitzmüller E, Hermuzi A, Carminati M, Guérin P, Tengler A, Fraisse A; EUROPULMS3 investigators
Eur Heart J 2024 Jan 14;45(3):198-210. doi: 10.1093/eurheartj/ehad663. PMID: 37874971
Arrigo AB, Zhu W, Williams KA, Guzman-Moreno C, Lo C, Lin JI
Genes (Basel) 2023 Apr 21;14(4) doi: 10.3390/genes14040947. PMID: 37107705Free PMC Article
Li R, Fu F, Yu Q, Wang D, Jing X, Zhang Y, Li F, Li F, Han J, Pan M, Zhen L, Li D, Liao C
Clin Genet 2020 Sep;98(3):215-230. Epub 2020 Jun 9 doi: 10.1111/cge.13774. PMID: 32410215
Wang Q, Zhao Y, Han L, Zhang Y, Ge S, He Y
Echocardiography 2017 Dec;34(12):1842-1851. doi: 10.1111/echo.13701. PMID: 29287135
Shaw GM, Nelson V, Iovannisci DM, Finnell RH, Lammer EJ
Am J Epidemiol 2003 Mar 15;157(6):475-84. doi: 10.1093/aje/kwg013. PMID: 12631536

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