Literature DB >> 10858865

[Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case].

E Stéphan1, R Ashoush, A Mégarbané, R Kassab, N Salem, J Loiselet, P Bouvagnet.   

Abstract

The kindred of 38 individuals reported here have various anomalies: 1. facio-thoracic malformations: hypertelorism, nasal deviation, cleft lip and palate, upper-incisors diastema and pectus excavatum; 2. cardiac anomalies: sinus node bradycardia, atrial fibrillation, nodal rhythm, atrial septal defect. Wolff-Parkinson-White syndrome, low insertion of the septal tricuspid valve corresponding to an Ebstein syndrome, pulmonic "en dôme" valve stenosis, aortic valve stenosis, long QT, and intraventricular conduction blocks. Almost all these defects are septal or para-septal. Mitral stenosis is probably rheumatoid. Such median varied pathology has not been yet reported. All the extra-cardiac anomalies are situated along the vertical upper half-body midline. All cardiac anomalies are in the septal or para-septal region. It is an autosomal dominant trait that implies the early embryonic development of the midline of cardiac and extra-cardiac structures.

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Year:  2000        PMID: 10858865

Source DB:  PubMed          Journal:  Arch Mal Coeur Vaiss        ISSN: 0003-9683


  1 in total

1.  Homozygous missense N629D hERG (KCNH2) potassium channel mutation causes developmental defects in the right ventricle and its outflow tract and embryonic lethality.

Authors:  Guo Qi Teng; Xian Zhao; James P Lees-Miller; F Russell Quinn; Pin Li; Derrick E Rancourt; Barry London; James C Cross; Henry J Duff
Journal:  Circ Res       Date:  2008-10-23       Impact factor: 17.367

  1 in total

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