Biomedical subjects
Publications and source records attributed to R Scognamiglio.
A case of thrombolytic treatment with urokinase on a Sorin mitral prosthesis is described. Thrombolytic therapy, that is an alternative to valvular replacement was effective. Color-Doppler showed as a reliable method to monitor therapy effectiveness. However, a serious complication was cerebral embolism.
A formal analysis of the mode of transmission of right ventricular cardiomyopathy was performed in seven families with this condition. Ninety-six subjects (81 family members, 15 connected) were studied. The index cases were family members who had died suddenly in their youth with autopsy evidence of massive fibrous-adipose right ventricular myocardial replacement. Pedigree analysis showed that 58 per cent of the family members were affected, with a male predominance (63% of men vs 53% of women). The kindreds were all normal and in none of the families were both parents affected. Carrier states were observed in both males and females and vertical transmission was demonstrated. Clinically, the disease was very variable with some cases showing widespread right ventricular involvement with or without cardiomegaly, and other cases showing localised right ventricular abnormalities. These data are consistent with a congenital disease with an autosomal dominant mode of inheritance with incomplete penetrance and variable expression.
Since 1977, six patients (five males and one female), aged 14 to 35 years, resuscitated from ventricular fibrillation, were referred to our department for detailed evaluation, after exclusion of major cardiac pathologic conditions. Four patients had a family history of heart disease. Basic ECGs showed sinus rhythm in all of them. PR interval was prolonged in one. Two patients had complete and one had incomplete right bundle branch block. One patient had inverted t waves in V1-3 and late potentials. Three had an upsloping ST-T segment elevation in V1-2. The cardiothoracic index was less than 0.5 in five and 0.50 in one. In one of the five patients studied, the clinical episode of ventricular fibrillation was reproduced by stimulation of the right ventricular outflow tract during electrophysiologic study. Results of cross-sectional echocardiography and angiography showed predominantly structural and wall motion abnormalities of the right ventricle in five patients and slight wall motion abnormalities of the left ventricle in two. Two patients also had mitral and tricuspid valve prolapse. Coronary arteries were normal in all five patients examined. Results of endomyocardial biopsy showed no abnormalities in one patient, fibrosis in two, and fibrolipomatosis in one. Two patients died during follow-up: autopsy was performed in one and results showed right ventricular cardiomyopathy. Thus in five of these selected patients with apparent idiopathic ventricular fibrillation, some abnormalities, predominantly of the right ventricle, were documented only after detailed investigation; however, clinical history and some nonspecific ECG abnormalities were factors in the diagnostic procedure.
Right ventricular dysplasia (RVD) is an important cause of arrhythmic sudden death in young people. Echocardiographic criteria suggestive of RVD were: dilation of RV, localized bulge and dyskinesia of the inferobasal wall, structural changes of the moderator band, isolated enlargement of RV outflow tract, apical dyskinesia and trabecular disarrangement. Among 136 subjects 'at risk of high incidence of RVD', 40 had a suggestive echocardiogram. 90% of these showed lipomatous transformation at biopsy and/or developed serious ventricular arrhythmias during a mean follow-up of 42 months. Thus, echocardiography is a potent method in detecting myocardial pathology due to RVD.
The value of cross-sectional echocardiography in the early diagnosis of right ventricular (RV) dysplasia in asymptomatic patients has been assessed. Criteria that defined RV dysfunction and structural abnormalities were developed from 38 normal subjects. Of 136 patients admitted into the study program, 40 (29.4%) had an echocardiogram suggestive of RV dysplasia using the following criteria: mild dilatation of the right ventricle (normal range defined as the 95% confidence limit of the values in the control group); localized bulge and dyskinesia of the infero-basal wall; structural changes of the moderator band; isolated enlargement of RV outflow tract; apical dyskinesia and trabecular disarrangement. Holter monitoring and a maximal exercise stress test at entry into the study and during the follow-up (mean 42, range 18-82 months) demonstrated serious ventricular arrhythmias, and RV endomyocardial biopsy confirmed the diagnosis of RV dysplasia in most of these patients, characterized by an electrical instability of RV myocardium (82.5%). During the follow-up, a marked enlargement of RV cavity appeared in three other patients, and RV endomyocardial biopsy demonstrated the typical findings in all patients.
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We evaluated the progression of conduction system and myocardial disease in 17 asymptomatic myotonic dystrophy patients by clinical evaluation, electrocardiography, vector cardiography, and echocardiography. An exercise test was done in 10 patients. After 8 years, a follow-up study of 12 of the 17 original patients was done with a similar protocol. During this period, 2 patients died: one of sudden death while the other had acute left ventricular failure. In our first control study, we found EKG abnormalities in 15 of our patients, consisting mostly of conduction defects or pseudonecrotic patterns. In our second control, all patients had conduction system disease and, in addition, 3 of them had premature ventricular beats. One patient developed dilated cardiomyopathy. In 6 patients, structural involvement of the right ventricle was found. We conclude that even in asymptomatic myotonic dystrophy patients a conduction system deficit is present and progresses, and cardiac death may occur in about 12% of these patients.
In 24 cases of arrhythmogenic right ventricular (RV) dysplasia, the electrovectorcardiographic (ECG-VCG) behavior of T horizontal (wave and loop) was analyzed and the data compared with RV angiographic volumes. Arrhythmogenic RV dysplasia was diagnosed on the basis of echocardiographic and angiographic data in all subjects. At ECG, T wave was negative in V1 in nine subjects (37%), in V1-V2 in six (25%), in V1-V3 in two (8%), in V1-V4 in one (4%), in V1-V5 in two (8%), and in V1-V6 in four (16%). Nine subjects (37%) presented a bifid T wave in V2-V4. At VCG, T horizontal loop showed three morphologic characteristics: (1) counterclockwise rotation with a mean axis range of +15 degrees to -10 degrees (average, +5 degrees); (2) a figure-eight pattern with a mean axis range of +10 degrees to -40 degrees (average, -17 degrees); and (3) clockwise rotation with a mean axis range of -40 degrees to -110 degrees (average, -70 degrees). T wave changes seem to be primary and independent from QRS changes. RV and diastolic volumes ranged from 100 to 320 m1/m2 (average, 169 +/- 69). The extension of T wave negativity on precordial leads has a direct relationship with RV enlargement (r = 0.89, p less than 0.01). T changes are probably caused by dislocation of the left ventricle backwards secondary to RV dilatation, asynchronous RV repolarization, or intraparietal RV conduction defects.
The unusual echocardiographic findings are described in a case of congenital interventricular septal aneurysm. The aneurysm involved the middle part of the interventricular septum and was associated with a cleft of the mitral valve and an atrial septal defect but with no evidence of an atrioventricular septal defect. There was extensive fibroelastosis of the right ventricle. The patient presented with brief runs of ventricular tachycardia.
A family with occurrence of juvenile sudden death and effort polymorphous ventricular tachycardias is reported. Nineteen members aged 9 to 63 years were investigated. Four of them died suddenly in their youth. Postmortem investigation performed in 2 deceased subjects disclosed an apparently normal heart at macroscopy but fibro-fatty substitution of the right ventricular free wall was noted at histologic examination. The 14 living members underwent physical examination, resting electrocardiography, chest X-radiography, Holter monitoring, exercise stress testing, and M-mode and cross-sectional echocardiography. Four patients underwent hemodynamic and electrophysiologic studies. All 14 subjects had normal physical examination as well as normal electrocardiographic and cardiothoracic indices. Localized right ventricular structural and dynamic abnormalities were noted at cross-sectional echocardiographic and angiographic investigation of 9 of the patients. The right ventricular volumes in these subjects were normal or slightly increased. In 7 of them, polymorphous ventricular tachycardias were induced by exercise stress testing. The arrhythmias which were responsive to beta-blockade, do not seem to depend on reentry. Enhanced automaticity appeared to be the more likely mechanism of their production. These data demonstrate that right ventricular cardiomyopathy may occur in an occult form with life-threatening electrical instability.
Right ventricular pathologic involvement, with autopsy evidence of fibrous and fatty infiltration of the right ventricle, was investigated in members of families in which cases of juvenile sudden death had occurred. Seventy-two subjects from nine families were studied. Sixteen died at a young age and 56 are living. Postmortem investigation in 11 cases (mean age at death 24 years) revealed massive replacement of the right ventricular free wall by fat or fibrous tissue. In the 56 living patients clinical examination included an electrocardiogram (ECG) at rest, ambulatory ECG recording, posteroanterior and lateral chest roentgenograms, M-mode and two-dimensional echocardiograms and exercise stress tests. In 14 patients, hemodynamic, angiographic and electrophysiologic studies were also carried out; right ventricular endomyocardial biopsy was performed in four. Structural and dynamic right ventricular impairment was detected in 30 living patients (mean age 25 years), and concomitant mild left ventricular abnormalities were present in 4. In eight of the nine families studied at least two members were affected. Ventricular arrhythmias (Lown grade greater than or equal to 4a) were recorded in more than half of the cases. The data reveal that right ventricular dysplasia shows a familial clustering and causes electrical instability that may place affected subjects at risk of sudden death. The mean age of these subjects suggests that the disease is manifested at a young age with a polymorphic clinical and arrhythmic profile. Finally, because this disease is a primary disorder of the ventricular myocardium, it should be included among the cardiomyopathies.
Five apparently healthy people (aged 16-47) presented with recurrent episodes of accelerated idioventricular rhythm characterised by left bundle branch block and right axis deviation. Clinical history, physical findings, basic electrocardiogram, chest x ray, and blood tests were within normal limits in all. Holter monitoring, exercise stress test, and electrophysiological study (in three patients) showed that accelerated idioventricular rhythm was mainly bradycardia dependent, easily suppressed by effort and overdrive pacing, and originated from the outflow tract of the right ventricle. The mechanism could be enhanced automaticity. Data from cross sectional echocardiography (in all patients) and from haemodynamic evaluation (in three) identified structural or wall motion abnormalities of the right ventricle or both without appreciable dilatation of the ventricle. Biopsy specimens of the right ventricular endomyocardium showed fibrosis in one patient, fibrosis and fatty infiltration in the second, and pronounced fatty infiltration in the third. These results show that some patients with accelerated idioventricular rhythm have right ventricular abnormalities that are typical of the localised and concealed forms of arrhythmogenic right ventricular dysplasia.
Overt cardiac failure usually presents with constant clinical features as consequences of the reduced pump action, associated with an increased adrenergic drive, independent of the underlying disease. However, the study of left ventricular function, before and during the phase of cardiac insufficiency, shows that different pathophysiological mechanisms are responsible for the symptoms and signs of reduced cardiac action. It is possible to recognize that cardiac failure is caused primarily by: (1) early severe depression of the inotropic state, i.e. dilated cardiomyopathies; (2) late inadequate level of ventricular hypertrophy, with normal contractility, i.e. aortic stenosis; (3) early inadequate level of hypertrophy and slightly reduced inotropic state, i.e. mitral insufficiency, and (4) late inadequate level of hypertrophy and severe progressive reduction in contractility, i.e. aortic insufficiency. The possibility of an 'in vivo' assessment of the different determinant parameters of left ventricular function (contractility, afterload, preload, fiber and chamber compliance) through echocardiography enables a better understanding of the mechanisms leading to the cardiac failure and a more efficient therapeutic approach.
Left ventricular (LV) function in 45 patients with native aortic valve infective endocarditis was studied in order to identify high surgical risk patients and the pattern of irreversible myocardial damage. LV function was studied by M-mode and 2D-echocardiography (LV volumes; ejection fraction, EF; peak systolic pressure to end-systolic volume ratio (PAP/ESV) as an index of myocardial contractility; LV mean systolic wall stress as an index of LV afterload and the radius to thickness ratio (R/Th). Thirteen patients underwent aortic valve replacement with an overall operative mortality of 15%. The cause of death was intractable heart failure. Different EF vs stress relationships could be described for different level of myocardial contractility: patients with intractable heart failure had a severely depressed myocardial contractility so that for a given level of LV stress, EF was significantly lower. High operative risk patients were identified by the PAP/ESV vs R/Th relation. All surgical deaths occurred in patients with a severely depressed myocardial contractility (PAP/ESV less than 2) and inadequate hypertrophy (R/Th greater than 4). Reversal of LV dysfunction in patients with moderately depressed myocardial contractility depended on the pattern of LV hypertrophy; a normal post-operative EF was achieved only in patients with adequate hypertrophy (R/Th less than 4).
268 patients (pts) aged between 4 and 63 (average block 33.6) years were examined in an effort to detect structural and/or wall motion abnormalities of the right ventricle, consistent with a diagnosis of Arrhythmogenic Right Ventricular Dysplasia (ARVD). The patients included in this study had some of these features: 1) sudden juvenile death (age less than 35 years) due to heart disease; 2) relatives of pts died suddenly of pathologically proven ARVD; 3) pts with ventricular arrhythmias grade Lown greater than 3, and with QRS morphology mainly of left bundle branch block; 4) pts between the ages of 18 and 40, with negative T waves beyond V2; 5) pts with ventricular arrhythmias of left bundle branch block morphology, and grade Lown greater than 1, and negative T waves beyond V1. ARVD was recognized in 108 living and 18 deceased pts. Our data confirm that ARVD is a wide spectrum disease, going from the classical form described by Marcus and Fontaine to concealed forms characterized mainly by premature ventricular complexes.
Echocardiographic parameters of left ventricular (LV) function were compared with the electrocardiographic findings in 40 patients with chronic severe aortic regurgitation. Total 12-lead QRS amplitude was linearly correlated with LV mass and its 'relative reduction' (less than 250 mm) indicated LV hypertrophy. Patients with an electrocardiographic 'strain' pattern had a marked increase LV stress (573 +/- 68 dyn). The association of high total 12-lead QRS amplitude and 'strain' indicate a moderately depressed ejection fraction (EF = 43 +/- 3). Finally, 'strain' and a 'relative reduction' of total 12-lead QRS amplitude were present in patients with a severe depression of EF and contractility. The predictive value of these electrocardiographic indices was confirmed during a mean follow-up of 49 months. In conclusion, the electrocardiogram remains an excellent, easy tool for anatomical and functional investigation of patients with aortic regurgitation.
Thirty-two members of a family were studied. Three of them died in their youth and had evidence of arrhythmogenic right ventricular (RV) dysplasia. The other 29 members underwent clinical examination, electrocardiography, chest x-ray and M-mode and 2-dimensional echocardiography. Fourteen patients found to have structural abnormalities of the right ventricle underwent 24-hour ambulatory electrocardiographic recording and symptom-limited bicycle stress testing. Hemodynamic and angiographic studies were performed in 6 of these patients. In this family the arrhythmogenic RV dysplasia showed a wide variation of abnormalities, ranging from mild, local alterations to generalized involvement of the right ventricle. The patients were separated into 3 groups on the basis of both the clinical profile and noninvasive/invasive studies: 3 subjects who died suddenly; 3 subjects who had severe ventricular arrhythmias; and 8 subjects in whom RV impairment was not associated with any significant arrhythmias. There was no close relation between the severity of the RV abnormality and presence of ventricular arrhythmias. The variability of the RV abnormality and the high prevalence of this condition in this family is consistent with a genetic pattern of autosomal dominance with incomplete penetrance.