Disease relevance of Endocardial Fibroelastosis

• The preoperative diagnosis was cardiomyopathy in 24 (six familial), congenital heart disease in two, and endocardial fibroelastosis in one [1].
• Increased mortality risk was associated with a fetal diagnosis of CAVB (13/15 deaths; p < 0.05), fetal hydrops (6/6 cases; p < 0.0001), endocardial fibroelastosis (5/5 cases; p < 0.0001) and delivery at < or = 32 weeks (4/6 cases; p < 0.05) [2].
• Since March 1988, we have performed orthotopic heart transplantation in 11 infants and children with hypoplastic left heart syndrome (n = 6), cardiomyopathy (n = 4), or congenital endocardial fibroelastosis (n = 1) [3].
• Doppler color flow mapping identified normal and abnormal anatomy (ventricular septal defect, atrial septal defect, endocardial fibroelastosis, dysplastic pulmonary valve, and tricuspid regurgitation) [4].
• Patients considered to have endocardial fibroelastosis, arrhythmogenic right ventricular cardiomyopathy, specific cardiomyopathy, or coronary heart disease were excluded from this study [5].

High impact information on Endocardial Fibroelastosis

• Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy [6].
• Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis [7].
• Fetal Doppler echocardiographic diagnosis and successful steroid therapy of Luciani-Wenckebach phenomenon and endocardial fibroelastosis related to maternal anti-Ro and anti-La antibodies [8].
• Combination of fatal digoxin poisoning with endocardial fibroelastosis [9].
• Endocardial fibroelastosis (EFE) has previously been shown to be associated with tissue carnitine deficiency, although the basis for the carnitine deficiency has not been documented [10].

Chemical compound and disease context of Endocardial Fibroelastosis

• Endocardial fibroelastosis resulted in a smooth LAA luminal surface and encased the pectinate muscles [11].
• Peripartum congestive cardiomyopathy and endocardial fibroelastosis associated with ritodrine treatment. A case report [12].

Biological context of Endocardial Fibroelastosis

• Midtrimester diagnosis of endocardial fibroelastosis and atrial septal defect: a case report [13].

Anatomical context of Endocardial Fibroelastosis

• Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts [14].
• Besides elastic and collagen fibres, numerous smooth muscle (SM) cells were found in the thickened endocardium in 3 cases of restrictive cardiomyopathy and in 1 case of congenital endocardial fibroelastosis [15].

Gene context of Endocardial Fibroelastosis

• A clinico-pathological study was carried out based on 38 autopsies of patients with endocardial fibroelastosis ( EFE ): 82% of the cases were below the age of one year [16].
• Paraffin sections of autopsied hearts with endocardial fibroelastosis were stained with polyclonal antibodies against human alpha-ANP [17].

References