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Biomedical subjects

F Camerini

Publications and source records attributed to F Camerini.

At least 37 records · Page 2Linked to original sources
PubMed1996

Familial right ventricular dysplasia with biventricular involvement and inflammatory infiltration. Heart Muscle Disease Study Group.

The aetiology of right ventricular dysplasia/cardiomyopathy is presently unknown. A genetic background has been suggested, but myocarditis may play a part in its pathogenesis. Two familial cases of right ventricular dysplasia, one of whom had also a diagnosis of myocarditis, are reported. Both patients presented with ventricular arrhythmias. The father subsequently had a "flu-like" syndrome, heart failure, and biventricular dysfunction; "active" myocarditis was found at endomyocardial biopsy. Then the patient died suddenly. The daughter developed progressive biventricular dysfunction; then she was resuscitated from a cardiac arrest, and subsequently died suddenly. In both patients necropsy showed severe right ventricular atrophy and fibro-adipose substitution, associated with biventricular fibrosis. Inflammatory infiltration was also present in the first patient. This study shows the association of right ventricular dysplasia and myocarditis in the same family. These cases may represent a link between inherited and acquired ("inflammatory") forms of the disease.

Adult↗
PubMed1996

Genetic factors in dilated cardiomyopathy.

Recent studies have demonstrated that genetic factors are likely to play a major role in the pathogenesis of idiopathic dilated cardiomyopathy (IDC). In clinical surveys, a familial trait has been demonstrated in 20 to 30% of idiopathic dilated cardiomyopathy patients (familial dilated cardiomyopathy). Molecular genetic studies have confirmed the clinical hypothesis of genetic heterogeneity in familial dilated cardiomyopathy, and are currently producing relevant advances in the understanding of this disease. The autosomal dominant form is considered to be the most frequent form of inherited idiopathic dilated cardiomyopathy. After the exclusion of a large series of candidate genes, the first familial dilated cardiomyopathy gene has been mapped to the long arm of chromosome 9. A second locus has been found on chromosome 1. Moreover, in two large families, characterized by a peculiar form of conduction delays and later development of myocardial dysfunction, the disease loci have been mapped to chromosome 1 and 3, respectively. The identification of the disease genes is in progress. In families with X-linked dilated cardiomyopathy, the disease gene has been identified as the dystrophin gene. The 5' end of the gene appears to be the critical region for the development of dilated cardiomyopathy without clinical evidence of muscle dystrophy. Furthermore, other cytoskeletal proteins, such as adhalin, could be involved in the pathogenesis of familial dilated cardiomyopathy. In familial right ventricular cardiomyopathy (or arrhythmogenic right ventricular dysplasia) characterized by isolated or prevalent right ventricular involvement, three different disease loci have been identified so far: two localized on the long arm of chromosome 14 and one on chromosome 1. The disease genes are still unknown and are currently under investigation. The study of the genetic factors at the molecular level is starting to elucidate the pathogenetic mechanisms of idiopathic dilated cardiomyopathy. These findings will also have relevant clinical and therapeutic implications.

Cardiomyopathy, Dilated↗
PubMed1996

[Bundle-branch reentry ventricular tachycardia induced by sinus beat].

A spontaneous episode of bundle branch reentry ventricular tachycardia was recorded in a 50 year old man few weeks after operation for a severe aortic valve regurgitation. After surgery, the patient developed recurrent syncope and showed a bradycardia-dependent left bundle branch block and a HV interval of 70 ms. A bundle branch reentry ventricular tachycardia with left bundle branch block morphology, easily induced during premature ventricular stimulation, occurred spontaneously after the longest sinus cycle of a sequence conducted to the ventricles with a left bundle branch block morphology of the QRS complexes. During left bundle branch block an incomplete and concealed anterograde conduction along the left bundle branch was supposed to be present and its disappearance was considered the trigger mechanism of the spontaneous ventricular tachycardia. The negative results obtained with the signal-averaged ECG in our case support the concept that intramyocardial delay is not essential for this type of ventricular tachycardia.

Aortic Valve Insufficiency↗
PubMed1995

Molecular genetics of dilated cardiomyopathies.

The application of molecular genetics in cardiology is currently producing important results in the study of the pathogenetic mechanisms underlying cardiomyopathies. Recent clinical surveys have indicated that genetic factors play a major pathogenetic role in idiopathic dilated cardiomyopathy (IDC). Familial IDC is frequent (20-30%) and is probably a heterogeneous entity, as suggested by the clinical variability and the different pattern of inheritance in the affected families. Molecular genetic studies have demonstrated the existence of heterogeneity also at the genetic level. In a series of families with X-linked IDC, the disease gene has been identified as the dystrophin gene. In familial right ventricular cardiomyopathy (or right ventricular dysplasia), a new nosological entity characterized by isolated right ventricular involvement that can mimic IDC, the disease gene has been localized in the long arm of chromosome 14. In families with matrilineal transmission, the cardiomyopathy could be linked to mitochondrial DNA alterations. Autosomal dominant familial IDC, considered to be the most frequent form, is currently under active investigation. Our preliminary data have excluded a large series of candidate genes, among which are the cardiac beta-myosin heavy chain and several other genes encoding for cardiac contractile proteins, genes of the HLA region, and about 60 genes involved in the immune regulation.

Cardiomyopathy, Dilated↗
PubMed1995

Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group.

Idiopathic dilated cardiomyopathy is a heart muscle disease of unknown etiology, characterized by impaired myocardial contractility and ventricular dilatation. The disorder is an important cause of morbidity and mortality and represents the chief indication for heart transplantation. Familial transmission is often recognized (familial dilated cardiomyopathy, or FDC), mostly with autosomal dominant inheritance. In order to understand the molecular genetic basis of the disease, a large six-generation kindred with autosomal dominant FDC was studied for linkage analysis. A genome-wide search was undertaken after a large series of candidate genes were excluded and was then extended to two other families with autosomal dominant pattern of transmission and identical clinical features. Coinheritance of the disease gene was excluded for > 95% of the genome, after 251 polymorphic markers were analyzed. Linkage was found for chromosome 9q13-q22, with a maximum multipoint lod score of 4.2. There was no evidence of heterogeneity. The FDC locus was placed in the interval between loci D9S153 and D9S152. Several candidate genes for causing dilated cardiomyopathy map in this region.

Cardiomyopathy, Dilated↗
PubMed1995

[Safety and tolerability of beta-blockers in severe cardiac decompensation from dilated cardiomyopathy].

BACKGROUND: Several reports from controlled and uncontrolled studies, mainly in the setting of heart failure due to dilated cardiomyopathy (DCM), indicate that chronic betablockade may improve hemodynamics and clinical function. There are few reports on the effects of betablockers in patients with severe heart failure. METHODS: Thirty-five patients (27 M; 8 F; mean age 44.3 +/- 16.7 years; range 14-66 years) with DCM, advanced functional (NYHA III-IV) and severe left ventricular dysfunction (LVEF < or = 25%) underwent a test dosage with metoprolol (5 mg b.i.d.). Five patients (14%) did not tolerate the drug; 30 were chronically treated with metoprolol (mean dosage 127 +/- mg/die). No differences in baseline characteristics were observed between tolerant and not tolerant patients, except for the E-deceleration time (103 +/- 42 ms vs 84 +/- 17 ms; p<0.05). Seven alive patients did not reach a minimum follow up of 18 months. Nineteen patients (54.3%) had a follow up of at least 18 months. They were classified as ¿improved¿ (11 pts; and ¿not improved¿ (8 pts; 42%) on the basis of a score, which included left ventricular ejection fraction (> or = 0.10), left ventricular end diastolic diameter (> or = 10%), regression of restrictive filling pattern, NYHA functional class (> or = 1), cardio-thoracic ratio (> or = 10%) and exercise time (> or = 2 min). No differences were observed at baseline between ¿improved¿ and ¿not improved¿ patients, with exception for a history of slight hypertension (p<0.01), congestive heart failure score (p<0.04) and right ventricular function (p<0.05). RESULTS: An overall improvement of all the main clinical-instrumental parameters were observed in the 19 long term treated patients. At the end of follow up 16 long term treated patients were in NYHA class > or = 2 and in 9 LVEF was > or = 40%. During follow up, among the 30 patients who tolerated the drug, 1 pt died suddenly after 12 months of betablocker therapy and 5 pts were transplanted. No major events occurred among ¿improved¿ patients, after 24 +/- 6 months of follow-up. The actuarial survival curve of our study population shows that survival at 1, 2, 3 and 4 years was respectively 87%, 75%, 67% and 66%. These results confirm previous trials evidence that a progressively increasing dose of beta-blockers confers functional benefit in DCM with severe heart failure.

Adolescent↗
PubMed1994

Evidence from family studies for autoimmunity in dilated cardiomyopathy.

Organ-specific antibodies are found in patients with autoimmune disease and their symptom-free relatives many years before clinical onset. Organ-specific cardiac antibodies can be found in patients with dilated cardiomyopathy (DCM) and their relatives, which supports the idea that DCM is an autoimmune disease. We did non-invasive cardiological assessment and antibody screening in 342 symptom-free relatives (170 male, 172 female, mean [SD] age 31 [16] years). 177 relatives were from 33 families with more than 1 affected individual (familial DCM) and 165 relatives from 31 families with only 1 affected member (non-familial DCM). The frequency of cardiac antibodies was higher among relatives of DCM patients than in controls (20% vs 3.5%, p = 0.0001). In 37 (58%) of the families studied, cardiac antibodies were found in the proband and/or in at least 1 family member and were more common in familial than in non-familial DCM (24% vs 15%, p = 0.036). Antibody-positive relatives were younger (26 [15] vs 33 [17] years, p = 0.01) and had a larger mean echocardiographic left ventricular end-systolic dimension (35 [6] vs 32 [6], p = 0.01 mm) and reduced percentage fractional shortening compared with antibody-negative relatives (31 [6] vs 34 [6], p = 0.008). Presence of cardiac-specific autoantibodies in symptom-free DCM relatives provides evidence of autoimmunity in a subset of our patients (58%), including familial and non-familial forms of DCM. These antibodies are associated with mild left ventricular systolic dysfunction on echocardiography and may be early markers for relatives at risk of DCM.

Adult↗
PubMed1994

Low frequency of detection by nested polymerase chain reaction of enterovirus ribonucleic acid in endomyocardial tissue of patients with idiopathic dilated cardiomyopathy.

OBJECTIVES: The purpose of this study was to determine the prevalence of enteroviral infection in the myocardium of patients with idiopathic dilated cardiomyopathy by using a highly sensitive and specific detection technique. BACKGROUND: Recent molecular studies have suggested that enteroviral persistence (in particular, coxsackieviruses type B) may underlie idiopathic myocarditis and dilated cardiomyopathy. METHODS: The method used to detect enterovirus-specific ribonucleic acids (RNAs) is based on reverse transcription and nested polymerase chain reaction amplification with four pairs of primers from the conserved 5' noncoding region of the enteroviral genome. Several members of the Enterovirus genus are detectable by this assay (coxsackieviruses B1 to B6; polioviruses 1 to 3; echoviruses 9, 19 and 31), with a sensitivity threshold close to the detection of a single molecule of viral RNA in 1 mg of tissue sample. Endomyocardial tissue samples from 84 subjects were analyzed (77 samples obtained from left endomyocardial biopsies, 7 from explanted hearts). The subjects comprised 63 study patients (53 with dilated cardiomyopathy, 3 with idiopathic myocarditis, 1 with right ventricular dysplasia, 1 with restrictive cardiomyopathy, 1 with eosinophilic myocarditis, 1 with primary ventricular fibrillation and 3 with myocarditis of known etiology) and 21 control subjects with other diseases. RESULTS: Positive signals were obtained only in samples from six study patients (four with dilated cardiomyopathy, one with right ventricular dysplasia and one with myocarditis). Samples from control subjects, uninfected rat myocardium and cultured cell lines yielded systematically negative results. Moreover, the nucleotide sequence analysis of the amplification products from patients with positive samples raised doubts about the true positivity of these samples. CONCLUSIONS: This study suggests that the persistence of enteroviral RNA in dilated cardiomyopathy is not a major cause of the disease and that a careful analysis of polymerase chain reaction amplification products is essential in any study in which this technique is pushed to high sensitivity thresholds.

Adult↗
PubMed1994

Changing mortality in dilated cardiomyopathy. The Heart Muscle Disease Study Group.

OBJECTIVE: To analyse the changes in mortality in dilated cardiomyopathy over the past 15 years and to identify the factors that might have influenced survival. DESIGN: Follow up study of 235 patients (aged 16-70) systematically enrolled on a register from 1 January 1978 to 31 December 1992. SETTING: Hospital department of cardiology. PATIENTS: Three groups corresponding to three periods of 5 years: group 1 (diagnosis between 1 January 1978 and 31 December 1982) 26 patients; group 2 (diagnosis between 1 January 1983 and 31 December 1987) 65 patients; and group 3 (diagnosis between 1 January 1988 and 31 December 1992) 144 patients. MAIN OUTCOME MEASURES: Death or heart transplantation. RESULTS: Two and four year survival was 73.8% and 53.8% in group 1, 87.7% and 72.3% in group 2, and 90.3% and 82.9% in group 3 (P = 0.02). During the 15 years of the study period the number of cases increased progressively and the baseline clinical characteristics changed (that is, patients were younger and less severely affected), partly explaining the improvement in survival. None the less, the three mortality curves tended to diverge progressively and the improvement in survival in the different groups was still significant after stratification for the severity of the disease, suggesting that treatment had a sustained effect. A progressively higher proportion of patients were treated with angiotensin converting enzyme (ACE) inhibitors and more recently with beta blockers. In group 2, after stratification for the severity of heart failure, patients who were treated with ACE inhibitors showed a better survival than patients who were not. Furthermore, analysis of group 3 showed that beta blockers had a significant additive effect with conventional therapy both by intention to treat and actual treatment. Four year survival in patients with mild and moderate to severe heart failure treated with beta blockers, and usually digitalis and ACE inhibitors, was respectively 90% and 87.5%. CONCLUSIONS: The improvement in the survival of patients with dilated cardiomyopathy over the past 15 years may be explained by earlier diagnosis, new treatments, and a change in the clinical characteristics of the patients at enrolment.

Adolescent↗
PubMed1994

Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree.

Idiopathic dilated cardiomyopathy (IDC) is a heart disease of unknown aetiology characterised by impaired ventricular function usually associated with dilatation of the cardiac chambers. In order to test the hypothesis of an immunological cause for the disease at the genetic level, we performed linkage analysis between the putative disease locus and some of the potential candidate genes involved in the immune response or coding for the targets for autoantibodies in a large multigeneration family (63 members) from southern Italy with autosomal dominant transmission of the disease. Twenty-nine polymorphic markers on 18 different chromosomal locations were investigated, including markers linked to the genes coding for the HLA antigens, the immunoglobulin heavy and light chains, the receptors for the immunoglobulin Fc fragments, the subunits of the T cell receptor and the associated CD3, CD4, CD8, and CD45 antigens, interleukins 1, 3, 4, 5, 6, 9, and 11, the interleukin 1 and 2 receptors, and the genes coding for the beta 1 adrenoreceptor, the adenine nucleotide translocator-1, and the cardiac alpha and beta myosin heavy chains. No evidence for genetic linkage to IDC was found at any of these candidate loci. These results indicate that the still unidentified IDC gene maps outside several loci involved in the regulation of immune reactivity.

Adult↗
PubMed1994

[New knowledge on the subject of therapy in cardiac decompensation in the light of large trials].

Although an underlying disturbance in cardiac function can be identified in most patients with congestive heart failure, manifestations of the disease are greatly influenced by other factors, particularly neurohumoral and peripheral adaptive responses which occur secondary to impaired cardiac function. Until recently diuretic agents and digoxin formed the basis of conventional treatment of this condition. The majority of clinical trials published since 1980, indicate that digoxin lessens symptoms and reduces morbidity associated with congestive heart failure particularly in patients with more advanced symptoms and ventricular dysfunction. The efficacy of digitalis in congestive heart failure may in part result from sympathoinhibitory properties such as the activation of baroreceptorial mechanisms. At present there is no conclusive evidence that cardiac glycosides improve survival. Several trials clearly indicate that angiotensin converting enzyme inhibitors (enalapril, captopril) can reduce both morbidity and mortality in symptomatic congestive heart failure. Asymptomatic patients like those with severe left ventricular dysfunction and those who are at high risk for left ventricular remodeling after anterior wall myocardial infarction may also benefit from ACE-inhibition therapy. Increasing evidence suggests that beta-adrenergic blockade can produce symptomatic and hemodynamic improvement in heart failure of idiopathic and ischemic aetiology. Appropriately powered randomized controlled trials are required to determine the impact on survival of beta-blockers.

Adrenergic beta-Antagonists↗
PubMed1994

Idiopathic left ventricular aneurysm: a clinical and pathological study of a new entity in the spectrum of cardiomyopathies.

In a prospective study on 340 cases with primary myocardial disease, eight patients (six males, two females, mean age 36 years, range 24-47) with an idiopathic left ventricular aneurysm were observed. All patients had normal coronary arteries, no angina or history of myocardial infarction; all but one had no risk factors for ischaemic heart disease; all had normal right ventricles; one patient had a history of familial dilated cardiomyopathy, two of 'flu-like' syndrome at the time of first symptom and two of alcohol abuse. All patients had ventricular tachycardia (VT), five sustained (of right bundle branch block morphology in three, and of different morphologies in two), three non-sustained. Patients with sustained VT had inducible VT (resembling the clinical one) on electrophysiological study. Electrocardiogram (ECG) showed an infarction pattern in three cases. Aneurysms were of limited size (2.1 +/- 1/11 segments on echocardiography) and were located in the septum, apex or posterior wall. Left ventricular ejection fraction (LVEF) was reduced (< 0.50) in six patients and was not correlated with the aneurysm size. The duration of illness was inversely correlated with LVEF (P < 0.05). Endomyocardial biopsy showed evidence of diffuse pathological changes in all cases (cell hypertrophy, myofibrillar lysis, mitochondriosis). During follow-up (64 +/- 32 months), patients were successfully treated with anti-arrhythmic drugs: no patients required surgical treatment to control ventricular arrhythmia. Considering the clinical and pathological features of idiopathic left ventricular aneurysm, this primary myocardial disease could be classified as a novel peculiar form of cardiomyopathy.

Adult↗