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Endocardial Fibroelastosis Differential Diagnoses

  • Author: Poothirikovil Venugopalan, MBBS, MD, FRCPCH; Chief Editor: Stuart Berger, MD  more...
Updated: Feb 21, 2014

Diagnostic Considerations

Other problems to consider

Other conditions to consider in patients with suspected endocardial fibroelastosis include the following:

  • Congenital heart diseases (especially left ventricular [LV] outflow tract obstruction)
  • Other causes of nonimmune hydrops fetalis
  • Left ventricular noncompaction
  • Centronuclear myopathy

Important considerations

Identify the disease or to rule out specifically treatable diseases in the differential diagnosis (eg, carnitine deficiency).

Recognize an associated congenital heart disease.

Counsel the parents and caregivers on prognosis.

Avoide premature discontinuation of medication.

Special concerns

Make all possible efforts to detect any treatable cause, such as congenital heart disease or systemic carnitine deficiency.

Risk of endocardial fibroelastosis (EFE) in subsequent pregnancies is 3-5% and warrants fetal echocardiography for early diagnosis.

Differential Diagnoses

Contributor Information and Disclosures

Poothirikovil Venugopalan, MBBS, MD, FRCPCH Consultant Pediatrician with Cardiology Expertise, Department of Child Health, Brighton and Sussex University Hospitals, NHS Trust; Honorary Senior Clinical Lecturer, Brighton and Sussex Medical School, UK

Poothirikovil Venugopalan, MBBS, MD, FRCPCH is a member of the following medical societies: Royal College of Paediatrics and Child Health, Paediatrician with Cardiology Expertise Special Interest Group, British Congenital Cardiac Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Julian M Stewart, MD, PhD Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College

Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Autonomic Society, American Physiological Society

Disclosure: Received grant/research funds from Lundbeck Pharmaceuticals for none.

Chief Editor

Stuart Berger, MD Medical Director of The Heart Center, Children's Hospital of Wisconsin; Associate Professor, Department of Pediatrics, Section of Pediatric Cardiology, Medical College of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, Society for Cardiovascular Angiography and Interventions

Disclosure: Nothing to disclose.

Additional Contributors

Jeffrey Allen Towbin, MD, MSc FAAP, FACC, FAHA, Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital

Jeffrey Allen Towbin, MD, MSc is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, Texas Pediatric Society, Cardiac Electrophysiology Society

Disclosure: Nothing to disclose.

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Chest radiograph, anteroposterior view, showing cardiomegaly and pulmonary venous congestion in a 6-month-old infant with endocardial fibroelastosis (EFE).
Chest radiograph, left lateral view, showing enlarged heart in 6-month-old infant.
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