Endocardial Fibroelastosis Clinical Presentation

Updated: Dec 16, 2020
  • Author: Poothirikovil Venugopalan, MBBS, MD, FRCPCH; Chief Editor: Stuart Berger, MD  more...
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Note the following:

  • Symptoms of endocardial fibroelastosis (EFE) include feeding difficulty, excessive sweating, breathlessness, failure to thrive, and wheezing.

  • Onset may acute enough to produce cardiogenic shock or sudden death; it is a recognized cause of sudden death in infancy.

  • Approximately 20% of patients have a history of frequent or recent respiratory tract infections.

  • Episodes of severe sudden abdominal pain may indicate coronary insufficiency.

  • The contracted form of endocardial fibroelastosis presents with features of left-sided obstructive disease and acute left ventricular failure.

  • Endocardial fibroelastosis is one of the recognized causes of nonimmune hydrops fetalis.


Physical Examination

Endocardial fibroelastosis manifests as the classic features of heart failure.

Tachypnea during feeding and grunting respirations with subcostal or intercostal retractions have been reported. Fine expiratory wheezes or rales in the lung bases are common.

The following may be present upon admission:

  • Pallor

  • Peripheral cyanosis

  • Fever

  • Leukocytosis

  • Anemia

  • Rash

Thromboembolic episodes may lead to sudden death, myocardial infarction, cerebrovascular events, or even pulmonary embolism.

The usual physical findings are as follows:

  • Cardiomegaly with normal-to-faint first and second heart sounds, a gallop rhythm with an audible third heart sound, apical pansystolic murmur of mitral regurgitation, and hepatosplenomegaly

  • Clinically detectable pleural or pericardial effusions (rare)