Endocardial Fibroelastosis Clinical Presentation

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

History

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.

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Physical

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)

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Causes

Possible causative factors include intrauterine viral infection (mumps, coxsackievirus B), subendocardial ischemia, impaired lymphatic drainage of the heart, and systemic carnitine deficiency. Using polymerase chain reaction (PCR) analysis, Ni et al reported that the mumps viral genome persisted in the myocardium of children with endocardial fibroelastosis; however, this requires further study. [6] The authors suggested cause and effect and speculated that the disease disappeared after the initiation of the measles-mumps-rubella (MMR) vaccination.

Nine patients with familial endocardial fibroelastosis were reported in 4 families, and inheritance patterns included X-linked recessive, autosomal dominant, and autosomal recessive. [7] Recently, mutation of the gene G4.5 (tafazzin) has been associated with familial X-linked endocardial fibroelastosis and Barth syndrome and has been reported to result in morphologic changes in the fetal heart as early as 18 weeks' gestation.

Dilated (primary) endocardial fibroelastosis occurs when the heart is otherwise normal and no other cause of unexplained heart failure, including systemic carnitine deficiency, is demonstrable. Dilated endocardial fibroelastosis (secondary) is associated with aortic stenosis or atresia and includes coarctation of the aorta, ventricular septal defect, anomalous origin of left coronary artery from the pulmonary artery, myocardial injury from any cause, and metabolic or carnitine deficiency. Contracted endocardial fibroelastosis (secondary) is associated with hypoplastic left heart syndrome.

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