[Cardiovascular aspects of Martin-Bell syndrome]. / Aspetti cardiovasculari della sindrome di Martin-Bell.

Cardiovascular anomalies have been studied in 13 subjects (8 males and 5 females, average age 15 +/- 7 years) affected from fragile X syndrome. This group has been examined by standard-ECG, Holter-ECG, echocardiography (M-mode, B-mode, Doppler and color-Doppler). The results have been compared with a control group of 39 subjects (20 males and 19 females, average age 15 +/- 5 years), with non genetic mental retardation. Clinical examination, ECG and Holter did not show any significant pathological alteration compared with the results of the control group. In the study group echocardiography showed the following results: 10 subjects (77%) had mitral valve prolapse of the anterior leaflet (arching); 4 of which (31%) with associated posterior leaflet prolapse; 2 subjects (15%) with posterior aortic leaflet prolapse; 2 subjects (15%) with tricuspid septal leaflet prolapse; 3 subjects (23%) had mild pulmonary artery dilatation; 1 subject (8%) had a mild aortic regurgitation; in 9 subjects (69%), 3 of whom with pulmonary artery dilatation, has been found pulmonary valve regurgitation; 10 subjects (77%) had tricuspid valve regurgitation. In all subjects cardiac dimensions were within the normal range. The most important result, in accordance with literature, is the high prevalence of mitral valve prolapse. The prolapse is asymptomatic and silent. We have never found aortic root dilatation that was described by other Authors. The described anomalies could be ascribed at the dysfunction of the connective tissue. This theory has been confirmed by necropsy studies. Therefore, we suppose that these alterations, particularly the anterior mitral leaflet prolapse, are non casually associated with the fragile X syndrome.

[Prevalence of pulmonary valve insufficiency in healthy children: a Doppler color study]. / Prevalenza dell'insufficienza polmonare in soggetti sani di età pediatrica: studio con color-doppler.

One hundred patients, institutionalized for mental retardation, aged between 3 and 14 years (mean age 12.2 +/- 3) and free from cardiovascular and pulmonary diseases, were studied using Doppler technique (pulsed wave-continuous wave and color-coded Doppler), to evaluate the prevalence of pulmonary regurgitation. The authors, utilizing a triple method (diastolic turbulence above pulmonary valve detected by pulsed wave Doppler or diastolic flow detected by continuous wave Doppler, presence of regurgitant pulmonary color-jet, from short axis view, toward the right ventricular outflow tract, and presence of the same feature in the color m-multigate) to detect the presence or absence of pulmonary regurgitation found 73% positivity. There were no differences between the two sexes and the size of the pulmonary artery was in the normal range. The characteristics of regurgitation were: No holodiastolic. The regurgitant max velocity jet was not greater than 1.50 m/s. Beat to beat variability. Max length of color-jet was not more than 2 cm. Rapidly decreasing Doppler profile. We can conclude that pulmonary regurgitation is very frequent in children and is not significant if it has the above-named characteristics. This latter fact is further confirmed by other authors.

[Echocardiographic and haemodynamic correlations in a case of hypoplasia of the right ventricle (author's transl)]. / Correlazione ecocardiografico-emodinamica in un caso di ipoplasia del miocardio ventricolare destro.

The authors correlate echocardiographic and haemodynamic reports of a 12 year old patient with congestive heart failure and enlarged heart, secondary to fibrotic cardiomyopathy which effected the right ventricle (RV) and left ventricle (LV) apex. The echocardiographic M-mode examination showed: dilatation of the RV; ectasis and akinesis of the apex of the LV; the left auricle small for hypoafflux; tricuspid valve very noticeable with defective end-diastolic closure, delayed 0,80 msec as regards to the mitral valve, and in which it was not possible to identify the proto-diastolic opening; typical movement of the pulmonary valve, according to French's description, with synchronous opening to the atrial systole; paradoxical movement of septum, with the peculiarity of showing the maximum posterior movement relating to the atrial systole. Catheterism indicated same pressures in the right auricle, RV and pulmonary artery, as is typical of right ventricle ipoplastic. Angiography confirmed echocardiographic reports revealing an enlarged right auricle and an ectasic and akinetic RV; the tricuspid valve was normally established and it remained almost constantly open; the apex of the LV was ectasic and akinetic. In conclusion, for the akinesis of the RV, the blood flow in the pulmonary artery was secured by atrial systole; such a haemodynamic situation had already been indicated by the echocardiographic examination for the absence of the real systolic closure of the tricuspid valve that the authors indicate as the most characteristic sign of such a table, together with the opening of the pulmonary valve with atrial systole.

[Scoliosis and mitral valve prolapse. An epidemiological and etiopathogenetic screening (author's transl)]. / Scoliosi e prolasso della mitrale. Rilievi epidemiologici ed etiopatogenetici.

The Authors have developed an epidemiologic screening among 299 subjects girl's secondary school (average 16.5 years) to verify the incidence of idiopathic mitral valve prolapse (MVP) and associated thoracic-skeletal abnormalities in young female people. The MVP was assessed in 10 subjects (3.3%), scoliosis in 41 subjects (13.7%). The MVP incidence among scoliotic subjects was 19.5% (8 among 41). To verify a possible common systemic connective tissue disorder between scoliosis and MVP, three groups of subjects (control, scoliosis, MVP), were visited by orthopedist, considering the incidence of following clinic parameters: recurvated knee, flat or valgus foot, pectus excavatum, lofty scapulas, joint and skin laxity. A significative increasing incidence of these parameters was found from the control group to the MVP group. Considering these parameters as index of a probable systemic connective tissue disorder, the hypothesis of a mesenchimal etiopathogenesis of MVP is confirmed.