X-linked Cardiomyopathy Presenting as Contracted Endocardial Fibroelastosis

Sjöberg, Gunnar; Chow, C. W.; Cooper, Stephen G.; Weintraub, Robert G.

doi:10.1016/j.healun.2006.12.001

Cited by 5 publications

(7 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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.…”

Section: To the Editormentioning

confidence: 99%

See 1 more Smart Citation

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Puvabanditsin

Nagar

Joshi

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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...

show abstract

Section: To the Editormentioning

confidence: 99%

“…The mode of inheritance of EFE in the two families appeared to be either autosomal or X‐linked dominant with reduced penetrance. Mutation of the gene TAZ has been associated with familial X‐linked EFE and Barth syndrome [Sjoberg et al, 2007]. EFE is responsible for significant morbidity and mortality in infants and children.…”

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

View full text Add to dashboard Cite

show abstract

“…Endocardial fibroelastosis (EFE) is a rare heart disease which usually presents with diffuse endocardial thickening due to deposition of collagen and elastin, most commonly affecting the left ventricle. 1,2 EFE can be categorized into primary and secondary. Primary EFE refers to an absence of any causative factor, therefore it is hypothesized to be caused by genetic factors, viral infections or transplacental crossing of maternal antibodies.…”

Section: Introductionmentioning

confidence: 99%

“…Primary EFE refers to an absence of any causative factor, therefore it is hypothesized to be caused by genetic factors, viral infections or transplacental crossing of maternal antibodies. 1,3 Secondary EFE occurs as a result of structural heart diseases, particularly related to the left ventricular outflow tract obstructions. 1 An underlying condition includes congenital cardiac malformation, aortic stenosis, coarctation of the aorta, hypoplastic left heart syndrome and ventricular septal defect.…”

Section: Introductionmentioning

confidence: 99%

“…1,3 Secondary EFE occurs as a result of structural heart diseases, particularly related to the left ventricular outflow tract obstructions. 1 An underlying condition includes congenital cardiac malformation, aortic stenosis, coarctation of the aorta, hypoplastic left heart syndrome and ventricular septal defect. 1,4 This pathology is commonly found in infants and children and its progressive nature usually leads to heart failure and death.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Autopsy Findings of Endocardial Fibroelastosis in an Adult

Razuin R.,

Nur Amirah MA,

Mardiana AA

2022

Indian Journal of Forensic Medicine & Toxicology

View full text Add to dashboard Cite

Background: Endocardial fibroelastosis (EFE) is commonly presented with diffuse endocardial thickening due to deposition of collagen and elastin, usually affecting the left ventricle of the heart. Case presentation: A 59-year-old gentleman who had no known medical illness had collapsed while performing house chores at home. Autopsy examination showed cyanosed lips and nail beds. The heart weighed 360 gm with distinct presence of whitish, firm and thickened endocardium of the left ventricle. The anterior descending coronary artery showed an almost complete occlusion by atheroma, in keeping with coronary artery disease. Mild pulmonary oedema was present. Histological examination revealed fibroelastosis forming plaque-like covering of the inner ventricle, with patchy myocardial fibrosis. Numerous 'heart failure' cells were present in the intraalveolar spaces. Conclusions: This case showed remarkable autopsy findings of EFE in adult with evidence of congestive heart failure episodes in his lifetime.

show abstract