The usual association is with an atrial septal defect, followed by pulmonary stenosis and pulmonary atresia; the ventricular septal defect is unusual. We present three cases with diagnosis of Ebstein?? The initial presentation of the first two was an acyanotic heart defect with congestive heart failure and increased pulmonary flow, whereas the third patient was cyanotic and functionally impaired. The three patients underwent surgery. In the first one, the ventricular septal defect was corrected with a valvular patch, a pleat of the atrialized portion, and a tricuspid valvuloplasty.

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The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect summary by Digilio et al. The same combination of Ebstein anomaly in 1 sib and comparable mitral anomaly in another was apparently present in the family reported by Yamauchi and Cayler Gueron et al.

Associated deformity of the tricuspid leaflets and defect of the atrial septum are frequent. Donegan et al. The Ebstein anomaly predisposes to right bundle branch block, preexcitation, and an increased risk of sudden cardiac death. Atrial fibrillation occurs in about one-third of patients with Ebstein anomaly. Pierard et al. McIntosh et al. Digilio et al. The remaining 22 patients had Ebstein defect alone; 1 of these patients also had WPW. Familial recurrence of CHD was seen in 1 family, in which a mother with nonsyndromic Ebstein anomaly had a son with persistence of left ventricular noncompaction see In a study of 44 consecutive patients with Ebstein anomaly, Digilio et al.

Andelfinger et al. Pedigree analysis indicated that CTVM segregated as an autosomal dominant trait with reduced penetrance. Genomewide linkage analysis in 1 kindred identified a CTVM susceptibility locus on chromosome 9 with a maximum multipoint lod score of 3. The 2 additional kindreds showed a conserved disease haplotype, indicating a founder effect in apparently unrelated Labrador retriever kindreds. The critical region of canine chromosome 9 contained a syntenic group of genes that has its human counterpart on 17qq Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9.

Ebstein anomaly associated with rearrangements of chromosomal region 11q. Ebstein anomaly: genetic heterogeneity and association with microdeletions 1p36 and 8p Heart J.

Coeur , Ebstein anomaly: report of a familial occurrence and prenatal diagnosis.


Anomalia di Ebstein



Anomalia de Ebstein



Category:Ebstein's anomaly


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