[Diagnosis of nonobstructive hypertrophic cardiomyopathy in a patient with Down's syndrome]. / Rilievo di cardiomiopatia ipertrofica non ostruttiva in un paziente con sindrome di Down.

This report describes the case of a patient with nonobstructed hypertrophic cardiomyopathy and Down's syndrome (47,XY, +21) in a 31 year old patient. Diagnosis of hypertrophic cardiomyopathy was made subsequently to ECG and two dimensional echocardiography findings. Personal and familial anamnesis and physical examination were negative. Standard ECG revealed signs of left ventricular enlargement and secondary alterations of repolarization (negative and giant T waves in DI-DII-V3-V4-V5-V6). Two dimensional and Doppler echocardiography disclosed left ventricular walls hypertrophy, particularly of the ventricular septum, of apex, lateral and inferior walls with normal systolic and diastolic function's index. Any intracavitary gradients were sound and Holter ECG monitoring repeated three times, revealed normal cardiac findings. In the literature this association was never described. We can't claim familial genesis of hypertrophic cardiomyopathy because parents and brothers didn't present any cardiopathy. It's important to mark that anatomic alterations functional features didn't correspond in our case, as demonstrated by clinical and echo-Doppler findings.

[The echocardiographic findings of cardiac rhabdomyomas in a female patient with tuberous sclerosis and Down's syndrome]. / Rilievo ecocardiografico di rabdomiomi cardiaci in una paziente con sclerosi tuberosa e sindrome di Down.

This report described the case of a patient with cardiac rhabdomyomas and tuberous sclerosis (TS), associated with Down's syndrome. Diagnosis of TS was made subsequently to sebaceus adenomas, peri-ungual fibromas and ash leaf macules, mental retardation, epilepsy, renal and cerebral calcification findings. Physical examination, ECG and Holter ECG monitoring revealed normal cardiac findings. Two dimensional echocardiography disclosed the presence of two areas of increased acoustic density; one of which was at the level of postero-medial papillar muscle and the second appeared to be adherent to ventricular septum. Left ventricular size, function and intracavitary blood flow were normal.

[Mental stress and ambulatory monitoring of arterial pressure]. / Stress mentale e monitoraggio ambulatoriale della pressione arteriosa.

The aim of this study was to validate the use of arithmetical mental stress testing as an indicator of an abnormal subject's response to stress in general. For this purpose 82 males (mean age 31 +/- 7 years, mean body surface area--BSA--1.76 m2), free from cardiovascular disease, underwent mental stress testing. In the sample examined we found 13 so-called reactive subjects, (mean age 32 +/- 7 years, mean BSA 1.8 +/- 0.1 m2), who during the test showed increases in mean blood pressure (greater than 20%) greater than mean values of the whole sample (17.8%). In any case blood pressure was higher than 150/100 mmHg. These data were compared with those of 15 subjects (mean age 32 +/- 4 years, mean BSA 1.77 +/- 0.1 m2) randomly selected among those, whose mean pressure increases were not higher than 17.8% (mean increase within sample). The 2 groups underwent blood pressure ambulatory monitoring and submaximal bicycle test. In reactive subjects, values of systolic (PAS) and diastolic pressure (PAD) were significantly higher than in controls (p less than 0.001) during blood pressure ambulatory monitoring, with a greater variability of such values as can be seen from the higher standard deviation (PAS 121 +/- 19 mmHg vs PAS 113 +/- 13 mmHg; PAD 82 +/- 11 mmHg vs PAD 75 +/- 10 mmHg). During ergometric testing, blood pressure trend was similar in the 2 groups.(ABSTRACT TRUNCATED AT 250 WORDS)

[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.