Familial Ebstein's anomaly.

Familial Poland anomaly.

The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low...

The Pelger-Huët familial anomaly of leukocytes.

Persistent atrial standstill in familial Ebstein's anomaly.

Persistent atrial standstill occurred in a father and his youngest son with familial Ebstein's anomaly. In both cases routine electrocardiograms showed no atrial electrical activity and cross sectional echocardiograms showed inferior displacement of the septal tricuspid leaflet and tethering of the tricuspid leaflets to the right ventricle. The father had a cerebral embolism and died of a myoca...

Impact of abnormal septal geometry on cardiac output in Ebsteins anomaly with tricuspid regurgitation compared to repaired Tetralogy of Fallot

Introduction We previously found reduction of cardiac index (CI) in patients with tricuspid regurgitation (TR) due to Ebstein anomaly, but not in patients with comparable right ventricular (RV) volume loading due to pulmonary regurgitation (PR) in patients with repaired tetralogy of Fallot (rTOF). We postulated that the difference may be attributable to impaired left ventricular (LV) filling ca...

Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype.

BACKGROUND AND PURPOSE CCMs are commonly associated with DVAs, but the incidence of association in familial CCM is unknown. The presence of a DVA significantly complicates surgical management of a CCM because of the risk of compromised venous drainage. In this investigation, we compared the incidence of a DVA in the presence of a CCM in sporadic and familial CCM cases comprising predominantly f...