Primary endocardial fibroelastosis. An inherited condition.

Hunter, A S; Keay, A. J.

doi:10.1136/adc.48.1.66

Cited by 11 publications

(7 citation statements)

References 17 publications

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“…In other cases, EFE has also been observed in viral infections (e.g., mumps, adenovirus, coxsackie B virus, parvovirus), autoimmune disorders (e.g., anti‐Ro, anti‐La antibody), and metabolic disorders (e.g., carnitine deficiency, mucopolysaccharidosis, Pompe disease) [Rustico et al, 1995; Ni et al, 1997; Nield et al, 2002]. Familial EFE has been reported and inheritance patterns include X‐linked recessive, X‐linked dominant, autosomal dominant, and autosomal recessive [Rafinski et al, 1967; Hunter and Keay, 1973; Westwood et al, 1975; Hanukoglu, 1986]. Westwood et al 1975 reported nine cases of EFE occurring in four families.…”

Section: To the Editormentioning

confidence: 99%

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Puvabanditsin

Nagar

Joshi

et al. 2010

American J of Med Genetics Pt A

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Endocardial fibroelastosis (EFE) was first described by Weinberg and Himmelfarb [1943] and is characterized by a porcelain-like thickening of the ventricular endocardium. It presents as unexplained heart failure in infants and children; with most patients progressing to end-stage heart failure and death [Nield et al., 2002]. With improvement in prenatal ultrasonography examination, EFE can be suspected in utero on the basis of ventricular enlargement, poor ventricular contractility, and marked echodensity of the endocardial surface. Although the etiology of EFE is poorly understood, it is conventionally classified into two types: congenital (primary) and acquired (secondary). The congenital type is usually sporadic, but may be inherited as an autosomal recessive (EFE1) or X-linked (EFE2) genetic trait [Sjoberg et al., 2007]. Array comparative genomic hybridization (array CGH) has revolutionized the cytogenetic testing available for patients with dysmorphic features and multiple anomalies leading to the discovery of many novel microdeletions. 16p11.2 microdeletion has recently been detected by array CGH [Ghebranious et al., 2007] and is associated with autism spectrum. In contrast, we report on a case of 16p11.2 deletion associated with EFE.The mother was a 21-year-old, gravida 2, para 1 woman whose pregnancy had been normal until 35 weeks' gestation when a fetal sonogram showed cardiac abnormalities. A fetal echocardiogram at 38 weeks' gestation showed massive cardiomegaly with cardiothoracic ratio of approximately 0.74. The right ventricle was severely dilated, but still contracting. The left ventricle (LV) was slightly enlarged; the LV wall was hypertrophic and trabeculated and barely contractile. The RV outflow tract wrapped around the LV. The pulmonary valve annulus was dilated and pulmonary valve tissue was not identifiable. Aortic and ductal arches were not visualized. There was severe pulmonary parenchymal hypoplasia. Mild ascites was noted. The provisional prenatal diagnoses were a primary dilated cardiomyopathy or an absent pulmonary valve syndrome. Due to massive cardiomegaly and virtual absence of lung tissues, the parents decided against aggressive intervention. A repeat cesarean was performed at 39 weeks' gestation; a female infant weighing 3,055 g was delivered. Apgar scores were 5 and 5 at 1 and 5 min, respectively. Chest X-ray showed massive cardiomegaly. Comfort care was initiated after delivery; the infant died at 3.5 hr of age.Autopsy showed a dilated right ventricle and small left ventricle. The heart weighed 50 g (normal 19.8 AE 4.8 g). The endocardium, thickened bilaterally, was lined with a white porcelain-like layer that was consistent with EFE ( Fig. 1). The diagnosis was confirmed by microscopic examination (Fig. 2). The right ventricle showed more severe EFE than the left. The inflow/outflow tracts of the heart were normal; the heart valves were normal. The ductus arteriosus and foramen ovale were patent. Viral tissue cultures of lung and heart were negative. PCR for parvovirus B19 on t...

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Section: To the Editormentioning

confidence: 99%

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Puvabanditsin

Nagar

Joshi

et al. 2010

American J of Med Genetics Pt A

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“…The term EFE was introduced in 1943 to describe a pronounced fibroelastic thickening of the ventricular endocardium presented as unexplained HF in infants and children [138]. Originally, EFE had been classified as diffuse idiopathic (primary) or secondary to other myocardial diseases such as viral infections, MC, metabolic disorders, inherited diseases, and congenital malformations [139,140]. However, the existence of primary EFE has been questioned as whether it is a distinct clinical entity or a consequence of dilated, infectious of inflammatory CM.…”

Section: Endocardial Fibroelastosismentioning

confidence: 99%

“…Indeed it is argues that the term primary EFE suggests that it presents a common final pathway of many myocardial diseases. Consequently, the most recent ESC and AHA classification of CMs have excluded EFE as a type of CM; instead, include both EMF and EFE within the clinical spectrum of RCM [4][5][6] although some studies include EFE as an aetiology or consequence of DCM [139,140].…”

Section: Endocardial Fibroelastosismentioning

confidence: 99%

“…It is likely that fibroelastosis represents the end-stage pathological phenotype of a heterogeneous group of conditions rather than a single disease entity [5]. Possible aetiopathogenic agents include viral infections with coxsackievirus, adenovirus, parvovirus, and mumps virus [5,140,144]. EFE may also be associated with metabolic and storage disorders such as primary deficiency of carnitine and respiratory chain abnormalities [145,146].…”

Section: Aetiopathogenesismentioning

confidence: 99%

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Endomyocardial diseases cardiomyopathy: A review and pooled analysis of pathophysiology, diagnosis and clinical management

Albakri¹

2019

Trends in Res

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Endomyocardial diseases are a rare and poorly understood aetiology of cardiomyopathy (CM). Common endomyocardial diseases capable of causing CM are endomyocardial fibrosis (EMF), hypereosinophilic syndrome (HES) with cardiac involvement and endocardial fibroelastosis (EFE). The key pathogenic mechanisms of HES and EMF are sustained eosinophilia while EFE is cardiac anomalies, infections or genetics causing fibroelastic thickening of the endocardium and systolic dysfunction. However, the recent classifications by the American Heart Association and the European Society of Cardiology describe CM due to endomyocardial diseases within the restrictive CM phenotype yet they might be two clinically distinct entities. Endomyocardial diseases as a cause of CM also lack sufficient evidence to develop a clear understanding of their natural course, diagnosis and management. Available evidence rely largely on earlier studies that have not incorporated progressive changes in non-invasive cardiac imaging that have occurred over the decades. Improved understanding of the disease and diagnosis is essential since early diagnosis and treatment targeted at the cause is essential to improve efficacy and survival. This paper therefore reviews published data on CMs due to endomyocardial diseases with a focus on epidemiology, aetiology, pathological features, clinical presentation, diagnosis and management. Improved knowledge on aetiologies of CMs such as endomyocardial diseases is important to develop targeted treatment and improve both patient and clinical outcomes.

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“…Three of the children died during infancy, and the disease was confirmed in one of them at autopsy. The survivors, two sisters age 5 years and 15 months (Family A) and two sisters age 17 and 14 years (Family B), are now symptomless and show a decrease in left ventricular hypertrophy. The mode of inheritance of EFE in our two families appears to be either autosomal or X-linked dominant with reduced penetrance.…”

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confidence: 97%

Inheritance of Familial Primary Endocardial Fibroelastosis

Hanukoglu

Fried

Somekh

1986

Clin Pediatr (Phila)

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Two related families with 15 children, seven of whom developed endocardial fibroelastosis (EFE) are described. Three of the children died during infancy, and the disease was confirmed in one of them at autopsy. The survivors, two sisters age 5 years and 15 months (Family A) and two sisters age 17 and 14 years (Family B), are now symptomless and show a decrease in left ventricular hypertrophy. The mode of inheritance of EFE in our two families appears to be either autosomal or X-linked dominant with reduced penetrance.

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Primary endocardial fibroelastosis. An inherited condition.

Cited by 11 publications

References 17 publications

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Endomyocardial diseases cardiomyopathy: A review and pooled analysis of pathophysiology, diagnosis and clinical management

Inheritance of Familial Primary Endocardial Fibroelastosis

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