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Biomedical subjects

E Stéphan

Publications and source records attributed to E Stéphan.

7 recordsLinked to original sources
PubMed2000

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

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.

Abnormalities, Multiple↗
PubMed1997

Hereditary bundle branch defect: right bundle branch blocks of different causes have different morphologic characteristics.

Hereditary bundle branch defect is an autosomal dominant genetic disease that, in a large Lebanese family, was mapped to the long arm of chromosome 19. Affected individuals have various combinations of conduction defects such as right bundle branch block, left or right QRS frontal-axis deviation, or atrioventricular blocks. We now further characterize this disease with the presentation of a two-decade follow-up and analysis of electrocardiographic features and mutation-carrier status. The conduction block may be overt in the first year of life, and among affected individuals, there is a worsening of the conduction block in 5% to 15% of cases, leading to complete atrioventricular block and possibly to sudden death. A group of individuals had QRS anomalies in right precordial leads such as rsr's', rss', or rSr', which may account for partial right bundle branch blocks. In this group, which we referred to as having an "r' pattern," 53% were actually mutation carriers, and 19% evolved toward a complete fascicular block. By contrast, mutation carriers with a normal electrocardiogram remained normal. The QRS morphologic appearance in the right precordial leads of affected individuals and r' pattern mutation carriers is notable for the absence or weakness of negative forces resulting in a rsR' or rR' morphology. In addition, an r' pattern is highly suggestive of a mutation carrier status in the presence of a broad r wave in aVR and s in V6 or a frontal-axis deviation. Finally, mutation carriers demonstrate a conduction block significantly more often in males than females (75% and 50%, respectively). This incomplete penetrance and slow evolution suggest that the actual prevalence of hereditary bundle branch defect is very much underestimated.

Adolescent↗
PubMed1995

Improved synthesis of a protected 11-oxoestrone.

An improved synthesis of 11-oxoestrone-3-acetate-17-ethyleneketal is reported. Adjustments are proposed for the oxidation of estrone by 2,3-dichloro-5,6-dicyano-1,4-benzoquinone into 9(11)-dehydroestrone. A complete hydroboration-oxidation of the resulting ketal, by means of borane-methylsulfide complex, gives the corresponding 11-hydroxy derivative. This latter compound is then acetylated for successful oxidation with pyridinium chlorochromate on alumina. The overall yield is 30%.

Acetylation↗
PubMed1979

Hereditary bundle branch system defect. A new genetic entity?

A familial survey demonstrated mendelian inheritance in three large kindreds with conduction abnormalities and heart block. The trait was autosomal dominant, with varying expressivity and penetrance, apparent male preponderance, and congenital onset. Manifestations included right bundle branch block, left axis deviation, and right bundle branch block associated with left axis deviation. Complete heart block proved almost always to be a late event, and developed in all documented cases from bilateral bundle branch block. An r' pattern, most likely representing a right ventricular conduction delay, is discussed.

Adolescent↗
PubMed1978

[Posttraumatic true aneurysm of the left ventricle caused by a shotgun wound].

An asymptomatic aneurysm of the left ventricle was discovered incidentally in a policeman aged 25, who had a history of a severe thoracic injury from a shotgun wound at the age of 15. Electrocardiography showed a transmural antero-lateral infarct; this was later confirmed at ventriculography. Coronary arteriography showed a narrowed anterior descending artery which crossed over the surface of the aneurysm. The cardiac status remained unchanged over an 8 year follow up period. The pathogenesis is discussed: a fold of contused myocardium, or immediate or late traumatic obstruction of the anterior descending artery, or both factors at the same time?

Adolescent↗