Early antithrombotic treatment with warfarin oral suspension in severe neonatal protein C deficiency.

Neonatal severe protein C deficiency is a serious disease. There is no uniform approach for long-term preventive treatment of thrombotic events. We report the case of neonatal severe protein C deficiency treated with warfarin oral suspension. An international normalized ratio (INR) from 2.5 to 3.5 was expected. The INR was measured by home monitoring using the Coaguchek XS® (Roche Diagnostics, Mannheim, Germany) monitor. During 2years of warfarin treatment, there were only two minor episodes of purpuric access and no bleeding was reported. This case suggests that the early introduction of warfarin oral suspension, home-care monitoring, and parental education programs may be a beneficial treatment option for children with protein C deficiency.

Structural and functional abnormalities of large arteries in the Turner syndrome.

OBJECTIVE: To analyse the structural and functional abnormalities in the large arteries in women with the Turner syndrome. METHODS: Aortic stiffness (assessed by means of the carotid femoral pulse wave velocity), level of amplification of the carotid pressure wave (by applanation tonometry), and carotid remodelling (by high resolution ultrasound) were studied in women with the Turner syndrome. Clinical and ambulatory blood pressures were taken into account in the analysis. Thus, 24 patients with the Turner syndrome and 25 healthy female subjects matched for age were studied. RESULTS: Women with the Turner syndrome had a higher augmentation index than the controls (Turner, mean (SD) 0.04 (0.14) v controls, -0.14 (0.13), p < 0.001) but a lower peripheral pulse pressure (39 (8) mm Hg v 47 (11) mm Hg, p = 0.010 in the clinic; 44 (5) mm Hg v 47 (6) mm Hg, p = 0.036 during the 24 hour ambulatory recording). The luminal diameter of the common carotid artery and the carotid-femoral pulse wave velocity were similar in the two groups, whereas carotid intima-media thickness tended to be higher in women with the Turner syndrome (0.53 (0.06) mm v 0.50 (0.05) mm, p = 0.06). After correction for body surface area, carotid intima-media thickness and pulse wave velocity were higher in women with the Turner syndrome. CONCLUSIONS: Vascular abnormalities observed in the Turner syndrome are implicated in the origin of the cardiovascular complications that occur in this syndrome. These abnormalities are morphological but also functional. An increase in the augmentation index can be explained in part by the short height of these patients.

[Congenital long QT syndrome in newborns]. / Syndrome du QT long congénital de révélation néonatale.

UNLABELLED: The perinatal manifestations of the long QT syndrome are rare, but early diagnosis and therapy are necessary to prevent sudden death. CASE REPORTS: A long QT syndrome was diagnosed in two neonates who presented with foetal bradycardia. In one case, a mutation in the gene KCNQ1 was identified, and a long QT syndrome was diagnosed in the mother and two brothers of the neonate. On beta-blocker therapy, one infant became free of long QT syndrome related symptoms, but a sudden death of the second infant occurred. CONCLUSION: The long QT syndrome should be considered in the differential diagnosis of foetal bradycardia. Early treatment of the neonate and his family may prevent ventricular arrhythmias and sudden death.

Carotid remodeling in essential hypertension: role of blood pressure, indexed parameters, and association with cardiac mass and aortic stiffness.

The role of blood pressure on carotid remodeling, using no indexed and indexed parameters, was studied in essential hypertension. Carotid parameters were also compared to cardiac mass and aortic stiffness. Forty untreated hypertensive men had echocardiography, carotid ultrasonography and carotidfemoral pulse wave velocity measurements. Cross-sectional area index was associated essentially with the 24-hour systolic blood pressure whereas intima-media thickness was related especially to the 24-hour pulse pressure. Carotid intima-media thickness and cross-sectional area indexes were less related to blood pressure variables than non-indexed parameters. There is an independent association between 24-hour pulse pressure and left ventricular mass index and pulse wave velocity. To conclude, blood pressure, particularly pulse pressure, is associated with vascular and cardiac alterations. The indexation by the body surface area do not provide any additional information in the association between carotid and blood pressure parameters.

[An unrecognized neonatal emergency: extensive hematoma of the scalp. 5 cases]. / Une urgence néonatale méconnue: l'hématome extensif du cuir chevelu. 5 observations.

BACKGROUND: Subgaleal hemorrhage results from a pericranial effusion of blood subsequent to neonatal trauma. This exceptional situation compared with other pericranial effusion conditions in the neonate may be life-threatening. CASE REPORTS: We report the obstetrical and neonatal data in 5 cases of subgaleal hemorrhage observed in our unit over an 8-year 8-month period. We detail one particularly demonstrative case which illustrates the potentially serious course of certain clinical presentations. DISCUSSION: Subgaleal hemorrhage is a clinical diagnosis. Signs of hemorrhagic shock are associated with hemostasis disorders in the more severe forms of the condition. The main risk factor is instrumental delivery with suction. Careful monitoring is required.

[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports]. / Syndrome d'Angelman et hypertonie vagale sévère. A propos de trois observations pédiatriques.

Angelman's syndrome is an association of severe mental retardation with absence of language, ataxia, convulsions and hyperactive, joyful behaviour with frequent bouts of laughing. Genetic diagnosis is possible in about 80% of cases. No cardiovascular abnormalities have been described in this syndrome to date. The authors report the cases of three children with Angelman's syndrome who presented with severe malaise due to increased vagal tone. The age of onset of symptoms was between 20 months and 8 years. One of the children had malaises triggered by bouts of laughing. The diagnosis was confirmed in all three cases by the results of Holter 24 hour ECG recording and oculo-cardiac reflex. The treatment chosen was Diphemanil (Prantal) in the two patients under 2 years of age (after failure of a trial of betablockers in one case) and Disopyramide for the oldest child with excellent results in all cases. However, one child died suddenly at the age of 6, two years after stopping diphemanil. Based on these observations, the authors suggest that all malaises in patients with Angelman's syndrome should be investigated by Holter ECG and oculo-cardiac reflex (or tilt test). In view of the potential gravity of the syncopal attacks, long-term medical treatment seems to be justified.

[Heart malformations and vascular complications associated with Turner's syndrome. Prospective study of 26 patients]. / Malformations cardiaques et complications vasculaires associées au syndrome de Turner. Etude prospective chez 26 patientes.

Turner's syndrome is associated with congenital heart disease in a third of cases. Several reports of aortic dilatation and of death by dissection or rupture of the aorta have been published. The authors undertook a prospective study to assess the incidence of cardiac malformations and aortic dilatation in genetically confirmed Turner's syndrome. Twenty-six out of 34 patients recalled (76%), aged 7 to 30 years (average 17 +/- 6 years) accepted their inclusion in this study and underwent clinical examination, ECG, chest X-ray and echocardiography. Thirteen patients had a monosomy 45X and 13 a mosaic or structural abnormality. Six had a history of cardiovascular disease (operated coarctation: 2 cases, kinking: 2 cases, Hypertension: 2 cases). Eight patients (30%) had one or several anatomical cardiovascular abnormalities: bicuspid aortic valve (19.2%), abnormalities of the aortic isthmus (kinking or coarctation) (15.4%), aortic regurgitation (7.7%), mitral stenosis (3.8%), partial anomalous venous drainage (3.8%), patent ductus arteriosus (3.8%) and left superior vena cava (11.5%). Systematic evaluation of the aorta resulted in the diagnosis of dilatation of the ascending aorta in 1 case and dilatation of the sinus of Valsalva in 2 other cases. The authors conclude that echocardiographic evaluation is essential after the diagnosis of Turner's syndrome. It should be repeated regularly to detect dilatation of the aorta which carries the risk of serious complications, such as rupture or dissection of the aorta.

Myocardial infarction and Turner's syndrome.

This paper reports the case of a patient with Turner's syndrome, who developed a myocardial infarction at the age of 36. Turner's syndrome, associated with gonadal insufficiency, increases atherosclerotic cardiovascular risks that must be assessed during the patient's follow-up.