Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance.

OBJECTIVE: A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described. BACKGROUND: Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle. METHODS: Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient. RESULTS: The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus. CONCLUSIONS: The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.

Prevalence and correlates of echocardiographic determined left ventricular hypertrophy in 2318 asymptomatic middle-aged men: the ECCIS project. Epidemiolgia e Clinica della Cardiopatia Ischemica Silente.

It is well established that left ventricular hypertrophy is a strong and independent risk factor for cardiovascular morbidity and mortality. This study was designed to determine the prevalence and correlates of left ventricular hypertrophy (LVH) among a sample population of 2318 totally asymptomatic men aged 40-59. This sample is a subset of the participants in the ECCIS Project. Left ventricular mass was estimated by echocardiography. The following individual variables were employed in the multiple linear regression analyses: age, diastolic and systolic blood pressure at rest and at peak exercise, body mass index, body surface area, conditioning physical activity. Three indexes of left ventricular mass were used: left ventricular mass/height, left ventricular mass/body surface area and "adjusted left ventricular mass" derived from adjustment, using a regression model, of left ventricular mass by age, body mass index and body surface area. The sample was subdivided in 3 blood pressure classes; normotensive (n = 1605), borderline (n = 390) and hypertensive (n = 323). All the variables considered with the exception of diastolic blood pressure both at rest and peak exercise were significantly correlated with left ventricular mass. Upper normal limits for left ventricular mass indexed to height and body surface area and of adjusted left ventricular mass were 143 g/m, 129 g/m2, and 245 g respectively. The prevalences of left ventricular hypertrophy, as determined by the reference standard of left ventricular mass/height, left.ventricular mass/body surface area and adjusted left ventricular mass, ranged 2.7-3.2% in the normotensive group, 4.2-5.4% in the borderline group and 11.8-14.5% in the hypertensive group, and were lower using adjusted left ventricular mass index. The results of this study show that the prevalence of left ventricular hypertrophy using adjustment by age, body surface area and body mass index reduces variability of left ventricular mass associated with age and body size and may be useful for the correct identification of left ventricular hypertrophy and hypertensive heart disease.

[Three-dimensional transesophageal echocardiography: a new cardiologic diagnostic tool. Initial experience with 150 patients]. / Ecocardiografia tridimensionale transesofagea: una nuova presenza nella diagnostica cardiologica. Esperienza iniziale su 150 pazienti.

BACKGROUND: Three-dimensional transesophageal echocardiography is a new diagnostic tool and its potential has been investigated mainly in international centers dealing with research in the field of cardiac pathologies. The clinical usefulness and the potential additional information over multiplane transesophageal echocardiography in daily clinical practice have not been exstensively studied. OBJECTIVES: This study sought to assess the feasibility and to define the potential role of three-dimensional technique in a clinical cardiology department. POPULATION AND METHODS: One hundred-fifty patients (73 males, 77 females) aged 17-82 underwent a three-dimensional transesophageal echocardiographic study. Indications for the study were the following: 39 mitral (26%), 13 aortic (8%) and 4 tricuspidal (2%) valvulopathies, 23 valvular prostheses (15%), 6 aortic diseases (4%), 16 sources of embolism (10%), 16 congenital heart diseases (10%), 14 ischemic heart diseases (9.3%), 14 cardiomyopathies (9%), 5 other pathologies (3%). The 3 D examination quality was graded as insufficient, sufficient and good. The information obtained by "volume rendered" and "anyplane" three-dimensional echocardiography were compared with the traditional two-dimensional images to determine whether they provided additional information. RESULTS: A total of 288 acquisitions were obtained in the 150 patients (1.9 acquisitions per patient). Examinations were graded of good quality in 99 patients (61%), sufficient in 36 (24%) and insufficient in 15 patients (10%). Additional informations were obtained in 33 patients (22%) by "volume rendered" echocardiography and by "anyplane echocardiography", including mitral regurgitation or repair for valvular prolapse (11 patients), aortic valve malformations and endocarditis (4 patients), congenital heart diseases (9 patients), right ventricular dysplasia (6 patients) or hypertrophic cardiomyopathy (1 patient), tricuspid regurgitation (2 patients). The additional information were obtained in patients in the group of good 3 D reconstructions quality in all but two cases. CONCLUSIONS: The diagnostic use of the transesophageal technique with 3 D facilities permitted to obtain an overall 22% of additional information. These results will stimulate further study to evaluate the advantages of the three-dimensional technique in specific clinical fields of application.

Determinants of physical performance at cycloergometer in healthy middle aged men in Italy. The ECCIS project. Epidemiology and Clinics of Silent Ischemic Heart Disease.

OBJECTIVE: The purpose of this analysis is to relate the performance at cycloergometer of healthy middle aged men, identified in a population, with a number of personal characteristics to explain part of their physical fitness indicators. SETTING AND PARTICIPANTS: A sample of 5,163 men aged 40-59, belonging to sedentary occupational groups in Florence and Rome, were screened by a complex diagnostic procedure (participation rate = 66.3%). 3,893 were judged "healthy" from the cardiovascular point of view. MEASURES: A cycloergometric test and the measurement of some individual characteristics allowed to correlate indicators of performance at exercise (work load, test duration, work load/heart rate, PWC150 and PWC150/kg) with body mass index, resting pulse rate, systolic, diastolic and mean blood pressure. HDL and non-HDL cholesterol, a score of physical exercise and cigarette consumption. RESULTS: Univariate and multivariate analysis showed significant relationship of exercise performance indicators with age, resting pulse rate, blood pressure, cigarette consumption (inverse) and with physical exercise score (direct). These individual characteristics could explain 14-15% of the variance of exercise performance indicators. CONCLUSIONS: The analysis could not establish how much the individual characteristics were causes or effects of individual physical fitness. A reasonable cause effect relationship can be argued for physical exercise score and likely for cigarette smoking. Relatively large differences in performance indicators can be expected for people with largely different individual characteristics.

Predictive value of sequential testing in screening for silent myocardial ischemia in asymptomatic middle-aged men (the ECCIS Project).

The accuracy of sequential testing in the noninvasive diagnosis of coronary artery disease has been established in the symptomatic clinical populations, while little is known about its value when applied to low prevalence groups, such as totally asymptomatic men. To evaluate the accuracy of noninvasive sequential testing in the diagnosis of silent myocardial ischemia, data were collected from exercise electrocardiogram, 201Tl perfusion scintigraphy and radionuclide angiography for 62 totally asymptomatic middle-aged men who underwent coronary arteriography because they were positive for two or more markers of myocardial ischemia as determined by a diagnostic screening of a nonbiased population consisting of 4,842 presumably healthy men aged 40-59 years (the ECCIS Project). The predictive value of serial testing procedures for significant coronary artery obstruction was 35%. Predictive values of an abnormal electrocardiogram associated with either an abnormal 201Tl scintigram, an abnormal isotopic ventriculography, or both were 33, 38 and 31%, respectively. In asymptomatic middle-aged men, there is at least a 50% likelihood that an abnormal radionuclide test is a false-positive result, and the positive predictive value is not enhanced by the concordance of an abnormal 201Tl scintigraphy with an abnormal isotopic ventriculography. Thus, the application of noninvasive sequential testing in screening for asymptomatic coronary artery disease is limited by its low predictive value in accordance with the Bayesian probability theory.

Clinical aspects and treatment of inflammatory abdominal aortic aneurysms.

An increasing number of inflammatory abdominal aortic aneurysms are reported today, although it is not clear whether these are nosologically independent lesions or a particular evolution of atherosclerotic aneurysms with enhanced phlogistic processes and fibrous reaction. Several pathogenetic theories have been proposed (microfissuration, autoimmunity, lymphatic stasis); clinical symptoms are characterised by the frequent involvement of contiguous retroperineal structures (in particular the urinary excretory tract and duodenum) which may be dislocated or compressed by the neoformation. CT or NMR appear to be the instrumental tests which give the most reliable diagnosis regarding the suspected inflammatory nature of the aneurysm. A correct pre-operative diagnosis is particularly important given that the morphological peculiarities (fibrosis and tenacious synechiae) add considerable pitfalls and difficulties to the operation. In this respect, the use of special technical devices, such as minimum dissection, permit a marked reduction of perioperative complications.

Normal behaviour of circulatory parameters during exercise. Reference values for heart rate and systemic blood pressure. The ECCIS Project data. Epidemiologia e Clinica della Cardiopatia Ischemica Silente.

The study of simultaneous variations in heart rate (HR) and systemic blood pressure is of great interest in ergometric practice complementing the analysis of the ST segment by ECG. This paper examines data proceeding from 500 consecutive, normal, exercise stress tests with the aim of offering reference values on the step-by-step behaviour of HR, systolic and diastolic blood pressure (SBP, DBP) during exercise in a normal population. The sample comes from a large epidemiological study (ECCIS Project) conducted on 4842 healthy, working men, aged 40-59, which proposes to identify, by a 3 stage procedure, subjects with totally asymptomatic coronary artery disease (type I silent ischemia). A further aim of our paper is to examine the influence of some physiological variables (age, height, weight, body mass index, resting HR, SBP and DBP) on the response to effort of HR, SBP and DBP; reciprocal HR/SBP adjustment during exercise; maximal attained workload and recovery time. Due to a preliminary observation that the rate of step-by-step increase in HR and SBP is inversely related to total duration, the population was split into 4 groups according to exercise tolerance (defined by maximal attained workload) to elaborate reference values. Furthermore our data demonstrate that: 1) SBP increases more rapidly with respect to HR for older and heavier subjects; 2) Exercise tolerance is inversely related to age, baseline HR and SBP, and directly related to weight and height; 3) return to baseline conditions, during recovery, is quicker for subjects with better exercise tolerance and lower baseline HR, SBP and weight.

Transient myocardial ischemia detected by Holter monitoring during the early post-infarction period.

BACKGROUND: On the basis of extensive studies concerning the prognostic value of Holter monitoring in patients with angina, we evaluated the clinical outcome of patients with transient ischemic episodes soon after myocardial infarction. METHODS: The incidence and clinical significance of myocardial ischemia, detected in the acute phase of myocardial infarction, were evaluated in 87 patients. Twenty-four-hour Holter recordings were obtained on the 2nd, 4th, 6th, and 12th hospital day. RESULTS: Myocardial ischemia was detected during at least one of the four recording periods in 28 patients (32%). A total of 157 ischemic episodes were documented. The proportion of recordings that showed transient myocardial ischemia progressively declined from 20% on the 2nd day to 5% on the 12th post-infarction day. Of the 157 ischemic episodes, 132 (84%) were silent and 25 (16%) were symptomatic. Transient ST-segment elevation was present in 99 of the 157 episodes (63%), while transient ST-segment depression occurred in the remaining 58 of the 157 cases (37%). One or more in-hospital cardiac events (reinfarction, acute pulmonary edema, ventricular tachycardia or fibrillation, cardiac death) were more frequent in patients with (group I) than in those without (group II) transient myocardial ischemia [nine out of 28 (32%) versus six out of 59 (10%); P < 0.03]. At follow-up (mean 11.5 +/- 2 months) the incidence of cardiac events (angina, reinfarction, heart failure, ventricular tachycardia or fibrillation, revascularization procedures, cardiac death, sudden death) was comparable in the two groups [four out of 24 (17%) versus 10 out of 49 (20%); NS]. Predischarge exercise testing, performed in 64 patients (74%), showed myocardial ischemia in 50%; the percentage did not vary significantly between group I and group II patients. Moreover, a positive exercise test was not predictive of major cardiac events at follow-up. CONCLUSION: Transient myocardial ischemia, frequently silent, is not uncommon in the acute phase of myocardial infarction and progressively decreases during the in-hospital stay. Its recognition in the subacute phase of myocardial infarction may lead to the identification of a subset of patients at the highest risk of early major complications, who may benefit from aggressive diagnostic and therapeutic strategies.

[Heart failure and arrhythmia: modalities and indications of prevention of thromboembolism]. / Scompenso cardiaco ed aritmie: modalità ed indicazioni alla profilassi delle tromboembolie.

Patients with atrial fibrillation are at risk for peripheral embolism. Congestive heart failure, a history of hypertension, previous arterial embolism or myocardial infarction are related to an increased risk for thromboembolism. Left ventricular enlargement and dysfunction, focal akinesia, protruding and mobile thrombi, spontaneous echo contrast are echocardiographic predictors of thromboembolism in patients with atrial fibrillation. Clinical trials have shown that antithrombotic therapy can reduce the rate of embolic events. In patients with heart failure the efficacy of antithrombotic therapy has not been tested in randomized, prospective trials. However in these patients oral anticoagulants are recommendable in the following conditions: atrial fibrillation; rheumatic mitral valve disease; previous thromboembolism; left ventricular enlargement and dysfunction; mobile and/or protruding thrombi; spontaneous echo contrast. The target INR in treated patients should be maintained within a range of 2 to 3 times the control. A more intense range of intensity of anticoagulation is indicated for patients with mechanical prosthetic valves or with relapsing thromboembolism. Current estimates of the effects of aspirin vary too much to allow any conclusions.

[The ECCIS study: the epidemiology and clinical picture of silent ischemic cardiopathy. Epidemiologia e Clinica della Cardiopatia Ischemica Silente]. / Lo studio ECCIS: epidemiologia e clinica della cardiopatia ischemica silente.

BACKGROUND: The ECCIS project (Epidemiology and Clinic of Silent Ischemic Heart Disease) is an italian epidemiological study based on a population sample of 4,842 totally asymptomatic men aged 40-59 whose primary aim is the evaluation of the prevalence of totally silent myocardial ischemia and silent myocardial infarction. METHODS: The systemic search for markers of silent ischemia and infarction was pursued along 3 screening stages: the 1st stage included resting electrocardiogram, hyperventilation test, exercise electrocardiogram and 24-hour Holter electrocardiogram; the 2nd stage included echocardiogram, thallium-201 scintigraphy in conjunction with exercise test or dypiridamole test, exercise radionuclide ventriculography and ergometrine test; the 3rd stage included coronary angiography. After the completion of the 1st stage procedures 439 men (9.1%) with abnormal results and low probability of disease were invited to the 2nd stage and 387 accepted to undergo the diagnostic procedures. After the completion of the 2nd stage, 104 men with moderate or high suspicion of silent myocardial ischemia or infarction were invited to perform coronary angiography but only 62 men accepted to undergo the 3rd stage procedures (participation rate 59.6%). RESULTS: The final diagnosis of totally silent myocardial ischemia or infarction on the basis of predefined criteria was established in 25 patients. The prevalence of silent ischemic heart disease on the overall original 4,842 men was 0.52% (95% CL, 0.32 and 0.72%), while the final estimate after adjusting for participation rates at 2nd and 3rd stages was 0.89% (95% CL, 0.6 and 1.1%). CONCLUSIONS: The results of the ECCIS study show that the prevalence of silent myocardial ischemia is definitely lower than that revealed by prior epidemiological studies in Norway and in USA.

Coronary risk factors and silent ischemic heart disease. The ECCIS Project.

An epidemiological study was conducted on 5163 men aged 40-59 years, made by occupational samples, from Florence and Rome to identify, by a three-stage procedure, subjects with asymptomatic silent ischemic heart disease (SIHD). This report describes some coronary risk factors. Men who are free from heart disease were compared with: (1) those having a low probability of SIHD (ECG signs only; n = 439); (2) those having a high probability of SIHD (ECG signs plus echographic signs, or positive markers of deficient perfusion, or altered radionuclide ventriculography; n = 104); (3) those having a definite SIHD (signs of the first two groups plus evidence from coronary angiography; n = 25). A clearcut increasing trend in the levels of major coronary risk factors, and in the multivariate estimated coronary risk for major events was found. The difference was not significant between highly probabile and definite cases of SIHD, due to the small numbers involved. Three multiple logistic models, with the three probability levels of silent ischemia as end-points, showed that four of 10 tested factors were associated with the presence of SIHD: age, systolic blood pressure, cigarette smoking and non-HDL serum cholesterol.