Ebstein Malformation

Description

Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.

Clinical Features

Top most frequent phenotypes and symptoms related to Ebstein Malformation

  • Fatigue
  • Ventricular septal defect
  • Respiratory insufficiency
  • Atrial septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology
  • Patent ductus arteriosus
  • Arrhythmia
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available EBSTEIN MALFORMATION have a estimated prevalence of 1.25 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Ebstein Malformation Is also known as ebstein anomaly of the tricuspid valve.

Researches and researchers

Doctors, researchs, and experts related to Ebstein Malformation extracted from public data.

Ebstein Malformation Experts map



Current Researchs and researchers

  • PARIS — Dr Sylvain CHAUVAUD

    Investigator of research project

    • Institution/s:
      — CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
    • Research area/topic::

      Clinical and experimental investigations on cardiac congenital valvular anomalies, right ventricule anomalies


  • MAGDEBURG — Dr Anke RISSMANN

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Magdeburg A.ö.R
    • Research area/topic::

      International Clearinghouse for Birth Defects Monitoring Systems


  • NEWTOWNABBEY — Pr Helen DOLK

    Investigator of research project - Coordinator of research network - Coordinator of patient registry network

    • Institution/s:
      — Room 12L09, University of Ulster
      — University of Ulster
    • Research area/topic::

      Epidemiological studies on congenital anomaly prevalence, risk factors, prevention and prenatal screening



Mendelian

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Ebstein Malformation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
6 %
Genes
100 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
MYH7 sequencing.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

MYH7
Specificity
100 %
Genes
100 %
Hypertrophic cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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