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Familial Ebstein Anomaly

MedGen UID:
445246
•Concept ID:
C2936171
•
Congenital Abnormality
Synonyms: Ebstein's Anomaly, Familial; Familial Ebstein's Anomaly; Familial Ebsteins Anomaly

Professional guidelines

PubMed

The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly.
Konstantinov IE, Chai P, Bacha E, Caldarone CA, Da Silva JP, Da Fonseca Da Silva L, Dearani J, Hornberger L, Knott-Craig C, Del Nido P, Qureshi M, Sarris G, Starnes V, Tsang V
J Thorac Cardiovasc Surg 2024 Aug;168(2):311-324. Epub 2024 Apr 27 doi: 10.1016/j.jtcvs.2024.04.018. PMID: 38685467
Canadian Cardiovascular Society 2022 Guidelines for Cardiovascular Interventions in Adults With Congenital Heart Disease.
Marelli A, Beauchesne L, Colman J, Ducas R, Grewal J, Keir M, Khairy P, Oechslin E, Therrien J, Vonder Muhll IF, Wald RM, Silversides C, Barron DJ, Benson L, Bernier PL, Horlick E, Ibrahim R, Martucci G, Nair K, Poirier NC, Ross HJ, Baumgartner H, Daniels CJ, Gurvitz M, Roos-Hesselink JW, Kovacs AH, McLeod CJ, Mulder BJ, Warnes CA, Webb GD
Can J Cardiol 2022 Jul;38(7):862-896. Epub 2022 Apr 20 doi: 10.1016/j.cjca.2022.03.021. PMID: 35460862
Psychotropic Treatment During Pregnancy: Research Synthesis and Clinical Care Principles.
Betcher HK, Wisner KL
J Womens Health (Larchmt) 2020 Mar;29(3):310-318. Epub 2019 Dec 3 doi: 10.1089/jwh.2019.7781. PMID: 31800350Free PMC Article

Recent clinical studies

Diagnosis

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM
Am J Med Genet A 2013 Dec;161A(12):3187-90. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36182. PMID: 23956225

Clinical prediction guides

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.
Mercer CL, Andreoletti G, Carroll A, Salmon AP, Temple IK, Ennis S
Circ Cardiovasc Genet 2017 Dec;10(6) doi: 10.1161/CIRCGENETICS.116.001683. PMID: 29237676
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM
Am J Med Genet A 2013 Dec;161A(12):3187-90. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36182. PMID: 23956225

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