Regulatory T cells in the immunodiagnosis and outcome of kidney allograft rejection.

Acute rejection (AR) is responsible for up to 12% of graft loss with the highest risk generally occurring during the first six months after transplantation. AR may be broadly classified into humoral as well as cellular rejection. Cellular rejection develops when donor alloantigens, presented by antigen-presenting cells (APCs) through class I or class II HLA molecules, activate the immune response against the allograft, resulting in activation of naive T cells that differentiate into subsets including cytotoxic CD8(+) and helper CD4(+) T cells type 1 (TH1) and TH2 cells or into cytoprotective immunoregulatory T cells (Tregs). The immune reaction directed against a renal allograft has been suggested to be characterized by two major components: a destructive one, mediated by CD4(+) helper and CD8(+) cytotoxic T cells, and a protective response, mediated by Tregs. The balance between these two opposite immune responses can significantly affect the graft survival. Many studies have been performed in order to define the role of Tregs either in the immunodiagnosis of transplant rejection or as predictor of the clinical outcome. However, information available from the literature shows a contradictory picture that deserves further investigation.

Rapid identification and antimicrobial susceptibility profiling of Gram-positive cocci in blood cultures with the Vitek 2 system.

Rapid identification and antimicrobial susceptibility profiling of the bacteria in blood cultures can result in clinical and financial benefits. Addition of saponin to the fluid from blood culture bottles promotes the recovery of the bacteria and thus may shorten the turnaround time of the microbiological analyses. In this study we compared the identification and susceptibility profiles of saponin-treated and untreated (standard method) blood cultures monomicrobial for Gram-positive cocci using Vitek 2. We concordantly identified 49 (89%) of 55 monobacterial cultures using the results with the standard method as reference. Complete categorical agreement between the susceptibility profiles with the new and the standard method was found for 26 (53%) of 49 isolates, while discrepancies were seen for 23 (47%) cultures. E-tests indicated that the new method resulted in a correct susceptibility profile for 8 (35%) of these 23 blood cultures. Therefore, 34 (69%) of 49 cultures showed a concordant/correct susceptibility profile for all antimicrobials with an overall error rate of 2.3%. Thus, addition of saponin to the fluid from blood culture bottles of the Bactec 9240 leads to the rapid (results available >or=12 hours earlier) and reliable identification and susceptibility profiling of Gram-positive cocci in blood cultures with Vitek 2.

Long-term anti-TNF-alpha treatments reverse the endothelial dysfunction in rheumatoid arthritis: the biological coherence between synovial and endothelial inflammation.

Rheumatoid arthritis (RA) is associated with an excess cardiovascular morbidity and mortality, related to systemic inflammation with endothelial dysfunction (ED) and impaired flow-mediated vasodilation (FMD). We assessed the FMD response to anti-TNF-alpha treatments in 28 RA patients, aged 49.8+/-15.3 years: an unpaired FMD was found in 66.7 percent of our cases and was restored after 6 weeks of anti-TNF-á treatment (13.5+/-5.3 percent vs 4.6+/-4.1 percent, p less than 0.05). Twenty-five percent of the infliximab patients demonstrated a long term response, compared with 60 percent of etanercept and 100 percent of adalimumab patients, after 2 years (p less than 0.01). Infections (3 cases), myocardial ischemia (1 case) or loss of response (4 cases) were associated with a worsened FMD, restored by shifting to adalimumab. The present study confirms that ED is an RA systemic disease marker, responsive to anti-TNF-alpha treatment and sensitive to clinical events or to a loss of response, underlying the biological coherence between synovial and endothelial inflammation.

Feasibility and safety of granulocytapheresis in Crohn's disease: a prospective cohort study.

BACKGROUND AND OBJECTIVE: This study evaluated the feasibility and safety of granulocytapheresis (GCAP) in inducing and maintaining remission in refractory Crohn's disease. The relationship between the clinical outcomes and the location (ileal or ileocolonic) of disease was also assessed. PATIENTS: We evaluated 16 patients with ileal location (group A), 14 with ileocolonic location (group B). The patients underwent five sessions (1 session/wk) of GCAP (Adacolumn(TM)). CDAI was measured at the end of the GCAP, at 6, 9 and 12 months. RESULTS AND CONCLUSIONS: No major complications were observed. At the end of GCAP, 19 (63.3%) patients showed a clinical remission: 10 (62.5%) in group A versus 9 (64.2%) in group B. At 6 months, 16 (53.3%) of the cases had maintained remission: 9 (56.2%) in group A versus 7 (50.0%) in group B. At 9 months, 13 (43.3%) patients had maintained remission: 7 (43.7%) in group A versus 6 (42.8%) in group B. At 12 months, 12 (40%) patients were still in clinical remission: 7 (43.7%) in group A versus 5 (35.7%) in group B. Risk of relapse was not related to disease location. The procedure was well tolerated and feasible in an important percentage of Crohn's disease patients.

Duration of remission and long-term prognosis according to the extent of disease in patients with ulcerative colitis on continuous mesalamine treatment.

AIMS: To describe the long-term prognosis of ulcerative colitis (UC) and to establish whether a correlation exists between the different anatomic locations of the disease and the risk of relapse in a homogeneous cohort of patients with UC in clinical remission, all treated with fixed doses of oral mesalamine from the date of enrollment to the appearance of the first relapse. METHOD: We distinguished the patients with pancolitis and left-sided colitis from those with distal colitis. The follow-up lasted up to 5 and 6 years for the patients with pancolitis and left-sided colitis, respectively, and up to 9 years for the patients with distal colitis. RESULTS: One hundred and fifty patients satisfied the enrollment criteria. We registered 19 drop-outs. All the patients had relapsed within 9 years. In most cases relapses arose within 2-3 years. The patients with pancolitis had a shorter time to relapse (100% relapsed after 5 years) than the patients with left-sided colitis (100% after 6 years) or distal colitis (100% after 9 years). None of the enrolled patients developed a cancer. Extraintestinal complications were observed in 9% of cases and surgery was needed in five patients only. CONCLUSION: The first 2-3 years after the enrollment of patients with UC in remission was the period at higher risk of relapse. No relationship was found between the different anatomic locations of the disease and the risk of relapse, even if distal colitis showed a slightly better course.

Treatment of patients with acute ulcerative colitis: conventional corticosteroid therapy (MP) versus granulocytapheresis (GMA): a pilot study.

AIM: The aim of our pilot study is to report the efficacy of granulocytapheresis in patients with acute ulcerative colitis with respect to the use of conventional corticosteroids such as methylprednisolone. METHODS: The activity of disease was evaluated by clinical activity index and endoscopic index. Forty patients with acute ulcerative colitis were randomly divided in two groups of 20 subjects each: one group was treated with five sessions of granulocytapheresis, the other one with methylprednisolone for 5 weeks. Complete response was defined as clinical activity index lower than 6 and endoscopic index lower than 4 after 6 weeks of follow-up. Partial response was defined as clinical activity index lower than 6 but endoscopic index more than 4 after 6 weeks of follow-up. All the conditions not included are classified as nonresponders. RESULTS: All the patients completed the trial. Complete clinical response was observed in 70% of patients treated with granulocytapheresis versus 60% of patients treated with methylprednisolone. A partial response was observed in 20% of patients treated with granulocytapheresis versus 15% of patients treated with methylprednisolone. During the sessions of granulocytapheresis only a transient mild headache was recorded in 10% of patients, while side effects were more common (50%) in the patients treated with methylprednisolone. CONCLUSION: Granulocytapheresis represents a new and promising approach to active ulcerative colitis. In fact, even if more expensive than conventional corticosteroids, it seems slightly more effective and, above all, with side effects much less frequent and serious. Thus, granulocytapheresis cycles could be prolonged or repeated, if necessary, in more severe diseases without significant risks for the patients.

Is low-protein diet a possible risk factor of malnutrition in chronic kidney disease patients?

Chronic kidney disease (CKD) is becoming increasingly widespread in the world. Slowing its progression means to prevent uremic complications and improve quality of life of patients. Currently, a low-protein diet (LPD) is one of the tools most used in renal conservative therapy but a possible risk connected to LPD is protein-energy wasting. The aim of this study is evaluate the possible correlation between LPD and malnutrition onset. We enrolled 41 CKD patients, stages IIIb/IV according to K-DIGO guidelines, who followed for 6 weeks a diet with controlled protein intake (recommended dietary allowance 0.7 g per kilogram Ideal Body Weight per day of protein). Our patients showed a significant decrease of serum albumin values after 6 weeks of LDP (T2) compared with baseline values (T0) (P=0.039), whereas C-reactive protein increased significantly (T0 versus T2; P=0.131). From body composition analysis, a significant impairment of fat-free mass percentage at the end of the study was demonstrated (T0 versus T2; P=0.0489), probably related to total body water increase. The muscular mass, body cell mass and body cell mass index are significantly decreased after 6 weeks of LDP (T2). The phase angle is significantly reduced at the end of the study compared with basal values (T0 versus T2; P=0.0001, and T1 versus T2; P=0.0015). This study indicated that LPD slows down the progression of kidney disease but worsens patients' nutritional state.

Cardiovascular effects of lisuride continuous intravenous infusion in fluctuating Parkinson's disease.

The cardiovascular effects of a continuous intravenous infusion of lisuride plus oral domperidone were studied in 16 fluctuating parkinsonian patients as compared to their usual oral therapy with levodopa plus carbidopa. The study was performed using a 24-h ambulatory recording and an automatic noninvasive device for blood pressure monitoring. During lisuride infusion, a significant increase of systolic blood pressure was observed; however, in three patients, a decrease of systolic-diastolic blood pressure occurred; furthermore, a mild increase of atrial arrhythmias and, in two patients, a short run of atrial fibrillation were noted. Asymptomatic orthostatic hypotension, observed in seven patients during levodopa therapy, disappeared during lisuride infusion. Paradoxical hypertensive effects and disappearance of orthostatic hypotension observed in our patients seem related to the concurrent administration of domperidone.

Long-term maintenance treatment in ulcerative colitis: a 10-year follow-up.

BACKGROUND: With the extensive use of mesalamine, the natural history of ulcerative colitis is probably changed. AIM: To evaluate the relapse rate and the duration of remission in patients with ulcerative colitis on maintenance treatment with mesalamine. PATIENTS AND METHODS: Enrolled in the study were 95 patients divided into 4 groups according to macroscopic location of the disease and treated with the same therapy starting from the date of enrolment. Patients in all 4 groups were followed-up until relapse occurred. The disease activity was evaluated by the Clinical Activity Index and Endoscopic Index. Patients suitable for recruitment showed a Clinical Activity Index and Endoscopic Index lower than 6 and 4, respectively. The patients with ulcerative pancolitis or left-sided colitis were treated with 1.6 g/day while the cases with proctosigmoiditis or proctitis were treated with 5-acetylsalicylic acid enemas 4 g/day Each patient was evaluated with clinical and endoscopic assessment at a 6-month interval. Relapse was defined as an increase in Clinical Activity Index and Endoscopic Index, of more than 6 and 4, respectively. RESULTS: Five patients dropped-out. All enrolled patients showed a clinical and/or endoscopic relapse within 10 years, the majority 2 or 3 years after diagnosis: pancolitis and left-sided colitis within 2-3 years and patients with distal colitis within 9-10 years. CONCLUSIONS: A relapse was observed in most cases within 3 years, and in all recruited patients within a space of ten years. The extent of the disease in the colon is an important prognostic factor, as patients with distal colitis showed a lesser tendency to relapse.

High-dose interferon plus ribavirin in chronic hepatitis C not responding to recombinant alpha-interferon.

BACKGROUND: Recently, the combination treatment of recombinant alpha-interferon plus ribavirin has been proposed for chronic hepatitis C patients unresponsive to previous therapy with recombinant alpha-interferon alone. AIM: To determine the effectiveness of the combination therapy for the re-treatment of chronic hepatitis C patients unresponsive to previous interferon therapy. Immediate and long-term follow-up data are reported. PATIENTS AND METHODS: A series of 100 patients with chronic hepatitis C not responding to recombinant alpha-interferon 3 MU tiw, were randomly assigned to two groups of 50 patients each: Group A, treated with recombinant alpha-interferon therapy for an additional six months but at a double dosage (6 MU tiw) in association with ribavirin. Group B, same treatment as group A but without ribavirin. All patients responsive to therapy were then followed-up for at least 12 months. At the end of the treatment and at the end of the follow-up period, we distinguished between complete responses (return to normal of alanine aminotransferase with undetectable serum HCV-RNA] and biochemical responses (return to normal of alanine aminotransferase still with detectable viraemia). RESULTS: Side-effects were observed only in patients treated with recombinant alpha-interferon plus ribavirin: 12% discontinued the therapy due to haemolytic anaemia. In group A, the percentages of end-of-treatment complete response, end-of-treatment biochemical response, sustained complete response, and sustained biochemical response, were 38%, 20%, 8%, and 14%, respectively, whilst in group B, these percentages were 12%, 16%, 6%, and 16%, respectively. CONCLUSION: The results indicate that in patients with chronic hepatitis C unresponsive to previous recombinant alpha-interferon therapy, re-treatment with higher recombinant alpha-interferon doses, either alone or in combination with ribavirin, lead to mild long-term benefit. However, the satisfactory end of treatment complete response in group A suggests that a significant percentage of patients are sensitive to the combination therapy; and that a more aggressive therapeutic protocol in this selected subset of patients could result in a larger number of long-lasting responses leading, in turn, to a more favourable cost-effect ratio.

Laparoscopic left hemicolectomy in a patient with cirrhosis scheduled for liver transplantation.

Hepatic cirrhosis is a negative prognostic factor for major abdominal surgery, with a greater risk of bleeding, infection, and ascites. The case of a 54-year-man with adenocarcinoma of the sigma affected by hepatitis B virus and hepatitis C virus hepatopathy as well as micro- and macrconodular cirrhosis (Child's B7 stage) waiting for liver transplantation is reported. After a consultation with the liver transplantation our hospital, and considering the the patient's age laparoscopy was determined to be the procedure of choice because it would give him the possibility of a transplantation in the future. A typical left hemicolectomy with left flexure mobilization and mechanic colorectal T-T-anastomosis was therefore performed. All surgical maneuvers in the right hypochondrium were avoided. Mobilization was performed using an ultrasonic scalpel to reduce the risk of bleeding, and the anatomic stump was pulled out by means of a midline minilaparotomy, sparing the anastomotic circles of the abdominal wall. Follow-up evaluation was uneventful. At an 8-month follow-up visit, the patient was in good general condition. In this case, laparoscopic surgery allowed an oncologically suitable colonic resection without complication and poor surgical stress. Moreover, open surgery would have reduced the possibility of a transplantation in the future.

Comparison between ranitidine and cimetidine in the short-term treatment of duodenal ulcer.

Two groups of 46 and 49 patients each with endoscopically proved duodenal ulcer and not previously treated, received ranitidine (150 mg X 2 daily) and cimetidine (1 g/day) respectively for eight weeks. The disappearance of the ulcer was observed endoscopically in 78% of both the first and second groups of patients. Of the ten patients non-responders to ranitidine, six were treated again for eight weeks with ranitidine and four with cimetidine for eight weeks; all of them recovered completely apart from one of the cimetidine treated patients. Of the 11 patients non-responders to cimetidine, seven were retreated with cimetidine and 4 with ranitidine for a further eight weeks and all of them obtained a complete recovery except for one of the cimetidine treated patients. No relevant side-effects were observed with either drug. In conclusion cimetidine and ranitidine showed a comparable therapeutic value.

Evaluation of clinical patterns in ulcerative colitis: a long-term follow-up.

The aim of this prospective research was to compare, in a seven-year follow-up, the clinical outcome of ulcerative pancolitis with that of non-progressive ulcerative colitis. The activity of the disease was evaluated by a Clinical Activity Index and an Endoscopic Index. Of 112 cases of ulcerative colitis observed, 95 showed no change in extent and were studied as examples of non-progressive UC, and in this group the extension of the disease was: pancolitis in 19%, left-sided colitis in 39%, proctosigmoiditis in 17% and proctitis in 25%. A colectomy had to be performed in 5%. None of the enrolled cases developed a cancer during the follow-up. The patients with ulcerative pancolitis or left-sided colitis were treated with 5-ASA 1.6 g/day in a delayed-release formulation, while the cases with proctosigmoiditis or proctitis were treated with 5-ASA enemas 4 g/day. The cases with more than one relapse/year were 39%. The proportion of patients with only one relapse/year was 53%. The patients with steady remission for all the seven years of the trial were only 8%, but with a statistically significant difference between the groups with initial diagnosis of proctosigmoiditis or proctitis and the group with initial diagnosis of pancolitis or left-sided colitis (12% versus 5%). Among the cases with continuous remission, 37% showed colonic alterations, with an endoscopic score higher than 4 but a clinical score less than 6. Side-effects were observed in 6% patients but without treatment withdrawal. Non-progressive ulcerative colitis throughout the colon has a relatively good prognosis which seems to be independent of the location of the disease, even if we have found a statistically significant higher percentage of cases with steady remission among the patients with more distal disease.

Sustained remission and viraemia in chronic hepatitis C treated with recombinant alpha-interferon (rIFN-alpha).

In this retrospective trial we report the immediate and long-term effects of rIFN-alpha therapy on serum aminotransferases, especially on their behaviour in relation to the disappearance of serum HCV-RNA at the end of the treatment and one year later. Eighty-eight subjects were eligible in our study. The diagnosis of hepatitis was based on clinical, serological and histological data in all patients. They showed ALT and AST levels at least twice the upper maximum normal value and detectable serum HCV-RNA before the study. These patients were treated with rIFN-alpha 3MU, 3 times a week, in 54 cases for 6 months and in 34 for 1 year. Patients were examined at monthly intervals. Serum HCV-RNA was assessed before and at the end of the treatment and every six months during the follow-up. A complete response was defined exclusively as a normalization of aminotransferases and disappearance of serum HCV-RNA. The two groups were homogeneous. During the treatment drop-outs were 5 (5.7%), and 7 patients (7.9%) stopped the therapy for side-effects. The treatment induced a complete response in 13 (25.4%) of 51 patients treated for 6 months, and in 8 (32%) of 25 cases treated for 12 months. The patients with normalization of aminotransferase levels but with still detectable HCV-RNA in serum were 20 (39.2%) of 51 treated for 6 months and 13 (41.9%) of 31 treated for 12 months. The cases with normalization of aminotransferases were followed up for one year after IFN withdrawal. Serum liver function tests and HCV-RNA were performed every 6 months in these patients. One year after IFN withdrawal the numbers with persistent normalization of liver enzymes and absence of serum HCV/RNA were 9 (69.2%) of 13 cases with complete response after a 6-month course, and 5 (62.5%) of 8 subjects with complete response after a 12-month course. The subjects with continuous normalization or liver enzymes but persistence of serum HCV-RNA at the end of the trial were 3 (15.7%) of 19 patients with normalization of liver enzymes and still detectable HCV-RNA after a 6-month course, and 2 (15.3%) of 13 cases with normalization of liver enzymes and still detectable HCV-RNA after a 12-month course. Overall at the end of our study the patients with normal aminotransferases were 19 (21.5%) of 88 cases studied. 14 of them (73.6%) being from the subjects with disappearance of serum HCV-RNA just after IFN treatment.

The long-term treatment of peptic ulcer after a bleeding episode.

We have studied 51 consecutive patients bleeding from peptic ulcer which was duodenal (D.U.) in 30, gastric in 17 (G.U.), anastomotic in 3 (Billroth 2), and oesophageal in 1 of them. One patient with G.U. was sent for surgery and 2 patients with D.U. died early; the others recovered through medical treatment and the ulcer healed after 6-8 weeks of treatment with ranitidine in 46 out of 48 patients. Subsequently, all the healed patients have been treated with ranitidine (150 mg at bedtime) for 6 months; by this time a new endoscopy showed an erosive antral gastritis in 2 patients with G.U. and 2 recurrences of D.U. Then the patients and their family doctors were invited to choose between the interruption of the treatment and its prolongation. 8 patients with previous G.U. preferred to stop treatment, and up to 1-2 years they did not show any recurrence; the remaining 5 patients carried on the maintenance treatment, and up to one year one of them showed an erosive antral gastritis. 15 patients with previous D.U. stopped the treatment and 5 of them after 1-24 months presented a recurrence with a new haemorrhage; 8 patients chose to continue the treatment and none of them for 6-24 months had recurrence. The limited number of the patients obviously does not allow a sound conclusion, but a trend is clearly seen which favours a prolonged maintenance treatment in patients with D.U. which has bled.

Sucralfate and carbenoxolone in the treatment of functional disturbances following partial gastrectomy.

30 patients submitted to partial gastrectomy (Billroth II) who later suffered digestive complaints (pain, "heartburn", bilious vomiting) showed gastric hyperemia, oedema and some erosions of the gastric stump when examined by endoscopy, the presence of cancer having been excluded by biopsy. These patients were randomly allocated into 2 groups of 15, one of which was treated with sucralfate (1 g 4 times), and the other with carbenoxolone (50 mg 4 times), daily for 8 weeks. After sucralfate the endoscopic finding showed a clear improvement in the gastric wall, accompanied by the almost complete disappearance of the complaint symptoms, in 13 cases (86.6%). After carbenoxolone the same improvement was observed at the endoscopy in 12 cases (80%), with similar recovery from symptoms. Nevertheless, no histological changes that could be attributed to the treatments were observed. In those patients whose endoscopic pattern remained unchanged by either drug, the complaints did not show any relief. No side-effects were detected during either of these drug treatments, each of which showed a similar therapeutic efficacy.

Ranitidine, cimetidine and antacids in the prevention of recurrence after healed duodenal ulcer: one-year experience.

A total of 110 subjects with duodenal ulcer healed with cimetidine (C) (50 patients), ranitidine (R) (40 patients) or pirenzepine (20 patients) was randomly divided in 3 groups. The first group (40 patients) was treated with R (150 mg nightly); the second group (40 patients) with C (400 mg nightly) and the third group with antacids as needed for symptomatic relief. The presence of the ulcer and its healing were established by endoscopy, which was repeated after 6 and 12 months of treatment, or previously if symptoms suggested recurrence. At the end of the year's follow-up, no recurrence of ulcers was observed in 75% of the R group, in 77.5% of the C group and in 40% of the antacids group. Some erosive duodenitis developed in the first and second groups (17.5% and 20% respectively), but none in the antacids group. Most of the ulcers that recurred did so in the first 6 months of treatment. No relevant side-effects were observed with the treatments described. Although no significant difference was detected between C and R treatments, both appeared to be clearly more effective than antacids. The usefulness of adequate prophylactic treatment against the tendency of duodenal ulcer to recur is stressed.

[Doppler evaluation of diastolic function in hypertrophic cardiomyopathy]. / La valutazione Doppler della funzione diastolica nella cardiomiopatia ipertrofica.

Diastolic function may play a significant role in patients affected by hypertrophic cardiomyopathy, because abnormalities in diastolic function, even in presence of a normal systolic function, may determine the clinical features of the disease. Doppler ecocardiography, using a non-invasive and not highly expensive method, easily allows to analize the indexes of diastolic function, as soon as some morpho-functional parameters, represented by extent and localization of the myocardial hypertrophy and presence or absence of obstruction in the left ventricular outflow, which have always been considered relevant in the prognosis together with the typical arrhythmic abnormalities of the disease. The aim of this study was to investigate the behaviour of Doppler ecocardiographic parameters of diastolic function in 38 patients with hypertrophic cardiomyopathy and to analize whether they might be correlated with the morpho-functional patterns and clinical features of the disease, represented by the NYHA functional class and occurrence of ventricular tachycardia during 48 hour ambulatory electrocardiographic monitoring. Diastolic function abnormalities, although occurring in most patients, do not seem to be related with clinical conditions and/or with the typical morpho-functional patterns of the disease; however, an increase in the left atrial size together with a specific increase in the rate of deceleration of flow velocity in early diastole that were detected in patients with ventricular tachycardia, by suggesting a relation between diastolic dysfunction and arrhythmogenic substrate, remarks the importance of the analysis of diastolic function for a better prognostic evaluation of the hypertrophic cardiomyopathy.

Familial occurrence in cardiovascular diseases. Familial cardiovascular diseases (1).

Current knowledge and assumptions about inherited cardiovascular diseases are reported in this review. They are examined from two different points of view. In the first section (familial cardiovascular diseases) discussion will center on the main cardiovascular diseases that have a definite clinical and pathophysiological feature in which familial occurrence has been extensively demonstrated. The genetic aspects of the primary cardiomyopathies, mitral valve prolapse, arrhythmias and conduction disturbances, long QT syndromes and abnormalities of ventricular repolarization, cardiovascular malformations, coronary artery disease, essential hypertension and rheumatic fever will be examined. In the second section (cardiovascular involvement in genetic disorders) discussion will be confined to the inherited multisystem disorders involving the cardiovascular system that most frequently occur in clinical practice. Currently known cardiovascular findings in relationship to chromosomal aberrations, connective tissue disorders, metabolic and enzymatic disorders, neuromuscular disorders and other rarer syndromes will be reported.

Familial occurrence in cardiovascular diseases. Cardiovascular involvement in genetic disorders (2).

Current knowledge and assumptions about inheritance of cardiovascular diseases are reported in this review. They are examined from two different points of view. In the first section (familial cardiovascular diseases) discussion centered on main cardiovascular diseases with a definite clinical and pathophysiological feature in which familial occurrence has been extensively demonstrated. The genetic aspects of the primary cardiomyopathies, mitral valve prolapse, arrhythmias and conduction disturbances, long QT syndromes and abnormalities of ventricular repolarization, cardiovascular malformations, coronary artery disease, essential hypertension and rheumatic fever were examined. In this section discussion will be confined to the inherited multisystem disorders involving the cardiovascular system that most frequently occur in clinical practice. Currently known cardiovascular findings in relationship to chromosomal aberrations, connective tissue disorders, metabolic and enzymatic disorders, neuromuscular disorders and other rarer syndromes will be reported.