Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre.

INTRODUCTION: Due to their rare prevalence and marked heterogeneity, pediatric cardiomyopathies (CMPs) are little known and scarcely reported. We report the etiology, clinical profile and outcome of a consecutive cohort of children diagnosed with CMP and followed at Meyer Children's Hospital over a decade. PATIENTS AND METHODS: We retrospectively reviewed patients consecutively referred from May 2008 to May 2019 for pediatric onset CMP (<18 years). Heart disease caused by arrhythmic disorders, toxic agents, rheumatic conditions and maternal disease were excluded. RESULTS: We enrolled 110 patients (65 males), diagnosed at a median age of 27 [4-134] months; 35% had an infant onset (<1 year of age). A positive family history was more often associated with childhood-onset (38.8%). Hypertrophic cardiomyopathy (HCM; 48 patients) was the most frequent phenotype, followed by dilated cardiomyopathy (DCM; 35 patients). While metabolic and idiopathic etiologies were preponderant in infants, metabolic and sarcomeric diseases were most frequent in the childhood-onset group. Major adverse cardiac events (MACE) occurred in 31.8% of patients, including hospitalization for acute heart failure in 25.5% of patients, most commonly due to DCM. Overall, the most severe outcomes were documented in patients with metabolic diseases. CONCLUSIONS: In a consecutive cohort of pediatric patients with CMP, those with infantile onset and with a metabolic etiology had the worst prognosis. Overall, MACE occurred in 41% of the entire population, most commonly associated with DCM, inborn errors of metabolism and genetic syndromes. Systematic NGS genetic testing was critical for etiological diagnosis and management.

Hidden familial cardiomyopathies in children: Role of genetic testing.

Pediatric cardiomyopathies harbour significant phenotypic and genetic heterogeneity. Genetic testing is essential for the initial evaluation and the ongoing care of child and family, although challenges remain regarding its appropriate clinical implementation in minors. We here discuss the key role of genetic diagnosis in the clinical management of two patients.

Sildenafil as “first line therapy” in pulmonary persistent hypertension of the newborn?

Despite the recent advances, the clinical approach to persistent pulmonary hypertension of the newborn (PPHN) still represents an important challenge for neonatologists. The care of newborns with PPHN requires meticulous therapeutic and ventilation strategies including, besides the stabilization of the newborn, the use of nitric oxide and high-frequency ventilation. However, not all the neonates with PPHH are responsive to this clinical approach. Recent studies have proposed the use of sildenafil, a phosphodiesterase 5 inhibitor, in refractory forms of PPHN. The aim of this study is to review the cases and the clinical approach of PPHN in the Neonatal Intensive Care Unit of Meyer Children Hospital in the year 2009 and to discuss the possible role of sildenafil in the management of PPHN.

Pulmonary atresia or critical pulmonary stenosis with intact interventricular septum diagnosed in utero: echocardiographic findings and post-natal outcome.

BACKGROUND: Survival of neonates with critical pulmonary obstruction depends on cardiac morphology and function but also on proper perinatal management. METHODS: Postnatal outcome of five neonates with critical pulmonary stenosis or pulmonary atresia detected in utero is reported. RESULTS: Right ventricular morphology and ratio between tricuspid and mitral annulus at Fetal Echocardiography were the most important prognostic parameters. Increasing severity of obstruction and of right ventricular hypoplasia was documented in two fetuses. CONCLUSION: Prenatal diagnosis was useful for planning delivery; we hypothesize that it can be of benefit on postnatal outcome. In selected cases, earlier delivery and relief of obstruction could have beneficial effect on prognosis.

[Kawasaki disease: clinical characteristics and cardiovascular involvement in a cohort of 121 patients]. / Malattia di Kawasaki: presentazione clinica, evoluzione e interessamento cardiocircolatorio in una coorte di 121 pazienti.

Kawasaki disease is an acute generalized self-limiting vasculitis of small and medium size arteries of unknown ethiology, mostly affecting children younger then 5 years of age. Coronary arteries may be involved with aneurysms lesions, thrombotic occlusion, acute coronary syndrome and sudden death. The mortality rate has been significantly reduced by combined therapy of intravenous immunoglobuline (IVIG) and acetil salicylic acid (ASA) from 3% to 0.2%. From February 1986 to November 2001, 121 children, 76 male and 45 females with Kawasaki disease, have been observed at the Paediatric Department, University of Florence. Coronary changes (i.e. coronary ectasia and coronary aneurysms) have been observed in 22.3%. In only one 3-months old child, giant aneurysms of coronary arteries and myocardial necrosis have been detected. In 26 of 27 children at 2D echo a remodelling of the coronary changes within 12 months from the onset of the illness was observed. The mean follow-up has been five years (range 6-138 months) and in no patient further cardiac manifestations have been observed; however, as little is known about the progression of vascular damage, a more protracted follow-up is needed.

Cardiac contusion in blunt chest trauma: a combined study of transesophageal echocardiography and cardiac troponin I determination.

BACKGROUND: The role of cardiac troponin I (cTnI) is well established in acute myocardial ischemia. However, its role in myocardial contusion remains to be clarified. Since transesophageal echocardiography (TEE) appears, at present, to be the best method for the diagnosis of myocardial contusion, the aim of this study was to measure the concentration of cTnI in patients with blunt chest trauma studied using TEE. METHODS: Thirty-two patients (27 males, 5 females, mean age 44+/-20 years), admitted to the Trauma Center of our Institution with clinical and/or radiological signs of acute blunt chest trauma, underwent biplane TEE within 24 hours of injury; serial blood samples were taken to measure cTnI levels (normal values < 0.4 ng/ml), using fluorimetric enzyme immunoassay. RESULTS: Abnormal levels of cTnI were found in 17 patients (53%): 7 patients had levels of cTnI between 0.4 and 1 ng/ml, whereas 10 patients had levels > 1 ng/ml. Segmental wall motion abnormalities consistent with myocardial contusion could be identified by echocardiography in 6/10 patients with cTnI levels > 1 ng/ml (60%) but in no patients with normal cTnI levels or with titers between 0.4 and 1 ng/ml; mean cTnI levels showed a significant difference between the two groups of patients with and without echocardiographic signs of myocardial contusion (2.6+/-1.6 vs 0.6+/-1.4 ng/ml, p < 0.001). CONCLUSIONS: Abnormal titers of cTnI suggesting myocardial contusion may be found in more than half of patients with blunt chest trauma; however, myocardial injury can be detected by TEE only for cTnI levels > 1 ng/ml; cTnI concentrations ranging between 0.4 and 1 ng/ml might be indicative of myocardial microlesions, not detectable by echocardiography, even if TEE is used; cTnI assay could therefore be suggested as a screening test before performing TEE after blunt chest trauma.

"Natural histories" of mitral valve prolapse. Influence of patient selection on cardiovascular event rates.

BACKGROUND: In previous studies the reported incidence of cardiovascular events among mitral valve prolapse patients has differed more than 10 fold. We endeavored to determine the relation between the clinical features and mode of ascertainment of mitral valve prolapse and the resulting event rate. METHODS: Between January 1979 and August 1996, 275 patients (129-47% men, 146-53% women, mean age 43 +/- 19 years), were followed for a mean of 98 months after evaluation in a referral center for valvular heart disease. Comparative data were obtained from a separate, less selected population consisting of 316 patients. RESULTS: A total of 65 events occurred (2.9/100 patient-years): 46 (2.0/100 patient-years) mitral surgery, 12 cardiac deaths (0.5/100 patient-years), 6 neurologic ischemia (0.26/100 patient-years), and 1 infective endocarditis (0.04/100 patient-years). The overall event rate varied significantly according to demographic, clinical and echocardiographic variables (all p < 0.0001). It was higher among males (odds ratio-OR 2.1), subjects > or = 45 years of age (OR 14.7), those with a holosystolic murmur (OR 25.9), an enlarged left ventricle (OR 13.5) or left atrium (OR 34.9) and those with 3-4+ mitral regurgitation at color Doppler echocardiography (OR 40.0). It was lower in those with an audible mid-systolic click (OR 0.05). These ORs closely resembled those we reported previously in a less selected population. At multivariate analysis, male gender (p = 0.013), severe Doppler mitral regurgitation (p = 0.0048), and left atrial enlargement (p = 0.046) were all independent predictors of events. CONCLUSIONS: In a population of mitral valve prolapse patients, including many with significant mitral regurgitation at baseline, we identified similar predictors of events but an overall event rate nearly 3 times higher than that we previously reported for relatively unselected patients or family members in New York City (1/100 patient-years). Therefore, the impact of patient selection on the prevalence of mitral regurgitation, older age and male gender strongly affects the adversity of the "natural history" of mitral valve prolapse.

Capture-recapture methods to size alcohol related problems in a population.

STUDY OBJECTIVE: To investigate the utility of capture-recapture methods to estimate prevalence of subjects with alcohol related disorders using multiple incomplete lists. DESIGN: This was a cross sectional study of alcohol related disorders in a large community. SETTING: During 1997 identified cases with known alcohol related disorders were independently flagged by four sources (self help volunteering groups; psychiatric ambulatory; public alcohology service; hospital discharges). PATIENTS: 381 records were flagged, corresponding to 349 individual cases from a target population resident in a northern Italy area. MAIN RESULTS: The two sample capture-recapture estimates were clearly biased because of dependencies among sources. Estimates based on log-linear models showed prevalent counts ranged from 2297 (95% confidence intervals: 1524, 3794) to 2523 (95% confidence intervals: 1623, 4627) after adjustment for dependence among sources only or also for heterogeneity in catchability among age categories (< 50 and >/= 50 years), respectively. CONCLUSIONS: The study suggests that capture-recapture is an appropriate approach for estimating prevalence of subjects with alcohol related problems who seek or need treatment and assistance when different lists of alcoholics can be obtained from different types of agencies involved with problematic use of alcohol. Critical factors are the complexity in case definition and the analysis of heterogeneity among people. Accurate estimates are needed to plan and evaluate public health interventions.

[Should the patient with an interatrial defect recognized in adulthood always be operated on?]. / Il paziente con difetto interatriale riconosciuto in età adulta deve essere sempre operato?

BACKGROUND: Atrial septal defect (ASD) can be recognized in adult age, mostly in asymptomatic or scarcely symptomatic patients. These patients differ from patients in "historical" clinical series, in whom diagnosis was done on the basis of clinical evidence, and their natural history is probably different. AIM OF THE STUDY: Our aim was to verify retrospectively results of surgery versus medical follow-up in an adult population with ASD with age at first diagnosis > or = 30 years. PATIENTS AND METHODS: Seventy-two patients with ASD, 52 females (72%), observed at our Institution since 1978, were considered. Mean age at diagnosis was 48 +/- 12 years (range 30-79); 36 patients (50%, group A) are still on medical therapy, 36 patients (group B) were operated. As groups A and B did not differ significantly in any demographic, clinical or echocardiographic parameter, they were compared for the incidence of complications. RESULTS: During follow-up (100 +/- 70 months, range 12-240), the incidence of major clinical events showed no significant differences in the two groups, as cardiac death or cardiovascular complications (cerebral ischemic events, severe mitral insufficiency, reoperation) occurred in 4 patients in group A (11%) and in 4 patients in group B (11%). Worsening of NYHA class was observed in 3 patients from group A (8%) and 2 patients from group B (5.5%; p = ns). New onset of supraventricular arrhythmias occurred more frequently in group B (14 patients, 39%) than in group A (5 patients, 14%) (p = 0.01; OR = 3.9; CI 95%: 1.2-12.6). CONCLUSIONS: In an adult population affected with asymptomatic or mildly symptomatic ASD and age at first diagnosis > or = 30 years, surgical closure of the defect did not modify morbidity and mortality at a mid-term follow-up. We suggest that, mostly in older asymptomatic patients, surgery should not be a routine choice and clinical decision-making should be individualized in each case.

[Verapamil-responsive ventricular tachycardia in small children: a case report and review of the literature]. / Tachicardia ventricolare verapamil-sensibile nel piccolo bambino: descrizione di un caso e revisione della letteratura.

A case of verapamil-responsive incessant ventricular tachycardia in a 4-year-old girl is reported. Oral verapamil alone failed in maintaining stable sinus rhythm. With association of oral verapamil and betablockers (nadolol) the patient remained asymptomatic without recurrence of ventricular tachycardia over a follow-up of 1 year. In case of failure of monotherapy with verapamil or betablockers alone, an association of both can be effective and safe also in pediatric age. Radiofrequency catheter ablation should be reserved, especially in pediatric age, only to patients with impaired ventricular function who are not responsive to medical therapy.

[The prevalence and characteristics of persistent pulmonary hypertension of the newborn. A multicenter study. The Study Group of the Società Italiana di Cardiologia Pediatrica (SICP)]. / Prevalenza e caratteristiche della ipertensione polmonare persistente del neonato. Studio multicentrico. Gruppo di Studio della Società Italiana di Cardiologia Pediatrica (SICP).

BACKGROUND: Persistent pulmonary hypertension of the newborn (PPHN) is a rare syndrome with a severe prognosis, in which a prompt diagnosis can be life-saving. The aim of our study was to verify its prevalence in a neonatal population, define clinical and echocardiographic criteria for the diagnosis of PPHN and discuss therapeutic choices. METHODS: The following clinical and echocardiographic criteria for the diagnosis of PPHN were defined: 1. cyanosis and hypoxemia non-responsive to O2 therapy; 2. right to left shunt at an atrial or ductal level. All neonates fulfilling these criteria referred to the neonatal units of seven pediatric or general hospitals over a two-year period were enrolled. RESULTS: From January 1995 to December 1996, thirty neonates with PPHN (8%) were observed. Birth was pre-term in 5 out of 30. Ten (33%) had experienced chronic and/or fetal asphyxia (FA). Death occurred in 7 (22%), four of whom with FA. Echocardiography showed tricuspid insufficiency in 18 (60%); mean pulmonary systolic pressure was 67 +/- 16 mmHg (range 41-95). In 23 surviving neonates, normalization of clinical and echocardiographic parameters occurred in 8 +/- 5 days. THERAPY: In most neonates, vasodilators (tolazoline, prostacyclin) and/or nitric oxide were employed. CONCLUSIONS: PPHN is confirmed to be a rare pathological condition; prognosis is severe, particularly in neonates with FA. Echocardiography is a reliable non-invasive method for a prompt diagnosis and follow-up. Subsequent studies are needed to assess therapeutic choices.

[Syncope at pediatric ages: evaluation with head-up tilt]. / La sincope in etá pediatrica: valutazione mediante head-up tilt test.

Syncope is a common medical problem with multiple potential causes and it is very frequent in pediatric population . Neurocardiogenic syncope has been increasingly recognized with the introduction of head-up tilt test (HUTT). The study investigates the clinical utility of HUTT in the evaluation and management of children with recurrent syncope and structurally normal heart. Two-hundred-forty-three consecutive young patients with recurrent unexplained syncope, 100 males and 143 females (mean age 11.4 years, range 5 to 20) underwent HUTT using a 60 degree tilt for 45 min. The test was considered positive when it provoked symptoms of syncope with hypotension and/or bradycardia. Twenty-six patients (10.7%) were positive for neurocardiogenic syncope. Of the 26 patients with the positive tilt, 5 (19.2%) had cardioinhibitory response, 5 (19.2%) mixed response and 16(61.6%) vasodepressive response. Nineteen of 143 females (13.3%) and 7 of 100 males (7%) resulted positive (NS). Among patients < 10 years of age 3/41 (9.8%) were positive and among > 10 years 22/202 patients (10.9%) resulted positive (NS). The cardioinhibitory response is more frequent in males (p = 0.01), and the vasodepressive in females (p = 0.05). In our study, concerning a non selected pediatric population a positive test resulted in a lower percentage than previously reported; moreover, the tilt test has appeared a promising method of identifying patients requiring pharmacotherapy. Additional randomized controlled studies are necessary to better define the prognosis and treatment of neurocardiogenic syncope in children and adolescents with positive tilt test. Finally, an assessment of the outcome of young patients with syncope and a negative tilt test is needed.

A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.

The aim of our study was to characterize the molecular defect in Italian Marfan patients, thus contributing to the effort of correlating the genotype with the phenotype. In particular, our ultimate goal was to identify the region(s) of the fibrillin 1 (FBN1) gene mainly involved in the health of the heart and of the aorta in terms of the cardiovascular system. We searched for a molecular defect in three patients with classic Marfan syndrome (MFS). The mutations were detected applying heteroduplex analysis to each of the 65 exons of the FBN1 gene amplified by polymerase chain reaction (PCR). Exons containing heteroduplex bands were sequenced directly from PCR products. This study reports the detection of three unique missense mutations in the FBN1 gene in three Italian patients: a 44-year-old adult male and 36-year-old female affected by classic MFS (with all the cardinal manifestations in the cardiovascular, ocular and skeletal systems), and an 11-year-old male affected by infantile (earlier onset) classic MFS. The first two are sporadic cases and present a Cys-->Arg amino acid substitution (T-->C substitution at nucleotide 7729) in exon 62 and a Cys-->Tyr amino acid substitution (G-->A substitution at nucleotide 6695) in exon 54. The third is a familial case which presents a Cys-->Trp aminoacidic substitution (C-->G substitution at nucleotide 3546) in exon 28. Our data confirm that cysteine substitutions in calcium binding epidermal growth factor (cbEGF)-like domains cause severe Marfan phenotype. Exon 24-32 cluster seems to produce an even more severe phenotype. The early characterization may be of clinical relevance for prevention and early surgical treatment of aortic aneurysm or dissection.

[Long-term follow-up on ventricular pre-excitation in pediatric age]. / Follow-up a lungo termine della preeccitazione ventricolare in età pediatrica.

AIM: Little is known yet about the clinical aspects of ventricular pre-excitation in pediatric age. In order to define clinical course, assess the risk of malignant arrhythmia and evaluate indications for ablative therapy, we studied 82 consecutive pediatric patients (pts) with this affection (61 males-21 females; mean age at diagnosis 5.1 years, range 1 day-15 years). RESULTS: Mean follow-up time was 66 months (range 3-252). Fifty-six pts (68.3%) were asymptomatic. One patient, who was affected with hypertrophic cardiomyopathy and died suddenly when she was 2 while her cardiac rhythm was being monitored, had an EKG pattern of asystolia. In 28 pts (19 m - 9 f, 34.1%), episodes of reentrant atrio-ventricular tachycardia, ranging from 160 to 320 beats/minute, were documented. Five pts, four of whom were less than 1 year old, had syncope or cardiac failure due to tachyarrhythmia. As far as maximum incidence of symptoms is concerned, two peaks were observed: within the first year and between 14 and 16 years of age. A transesophageal electrophysiologic study was performed in 22 pts, tachyarrhythmias were induced in 15, and risk criteria were satisfied in 3/22 (13.6%). Five pts underwent catheter ablation of an accessory pathway and this was successful in three of them. CONCLUSIONS: The clinical course in this series of patients has been benign. Nevertheless, during the first year of life cardiac failure or syncope may occur because of high heart rates. The transesophageal electrophysiologic study, which is also easy to perform in pediatric patients, has been sensitive in assessing the risk of malignant arrhythmia, but it shows low predictive accuracy. Lastly, ablative therapy has shown lower efficacy in children than in adult patients.

Prognostic factors for long-term survival in cirrhotic patients after the first episode of liver decompensation.

BACKGROUND/AIMS: Prognostic studies on cirrhosis are needed, since several attempts to obtain better survival predictors than the empirically derived Child-Pugh's score have failed. METHODS: Four hundred and ninety-four consecutive in-patients with cirrhosis at the first episode of decompensation (ascites, jaundice, encephalopathy) and/or of digestive haemorrhage from ruptured oesophageal varices were followed from admission (1983-1989) to 1993, studying the relationship between 26 prognostic variables and survival. Three prognostic models were constructed using Cox's regression model and the Receiver Operating Characteristic (ROC) analysis was used to compare their predictive ability. RESULTS: During follow-up 351 patients died (median cumulative survival 1.82 years). Child-Pugh's score (explicative variable of the first Cox's model), albumin and encephalopathy among the 5 Child-Pugh variables (second model), and oesophageal varices haemorrhage and 3 biochemical indexes among the 7 significant variables on univariate analysis (third model) correlated with survival. The area under the ROC curve of the first model did not significantly differ from that for the other 2 models. CONCLUSIONS: The Child-Pugh's score is still the best and simplest index for assessing the prognosis of liver cirrhosis.

Renal resistive index and left ventricular hypertrophy in essential hypertension: a close link.

The aim of this study was to evaluate renal Doppler resistive index in patients with mild to moderate essential hypertension (EH) and to correlate its changes with the presence of left ventricular hypertrophy assessed by echocardiography. Twenty-eight EH patients (19 males, 9 females, mean age 56.2 +/- 8.6 years) and 13 normotensive subjects (7 males, 6 females, mean age 57.6 +/- 7.9 years) were studied; all patients underwent a complete echocardiographic study (M-mode, two-dimensional and Doppler) and a color Doppler echography of renal and intrarenal arteries. After the renal Doppler waveform was obtained, resistive index was calculated by peak systolic velocity (S) and lowest diastolic velocity (D) with the formula S-D/S. EH patients were divided into two subgroups on the basis of left ventricular mass (LVM): Group EH1 with normal LVM (15 patients) and Group EH2 with increased LVM (13 patients). All patients evidenced normal renal morphology and function and received no therapy throughout the entire observation period. Renal resistive index was significantly higher in EH patients than in controls; however, the maximum difference was observed between normotensive subjects and the EH patients with increased LVM (p < 0.00001). At univariate analysis, significant correlations were found between renal resistive index and age, body mass index, left ventricular relative wall thickness and LVM. However, when multiple regression analysis was used, only age (p < 0.01) and LVM (p < 0.05) remained significant predictors of resistive index. In conclusion, our data show that in EH patients resistive index, which is considered an expression of arterial impedance, is well correlated with the presence of left ventricular hypertrophy, presently considered the best index of the severity of hypertensive disease. This correlation may be the expression of the involvement of two target organs in hypertension.

[Efficacy of steroid therapy in a case of hepatic hemangioendothelioma in childhood]. / Efficacia della terapia steroidea in un caso di emangioendotelioma epatico in età pediatrica.

Multiple hepatic hemangioendothelioma are vascular lesions of the liver that generally appear in the infancy with hepatomegaly, high output congestive heart failure and cutaneous hemangiomas. Many plans for management (steroid, radiation, hepatic artery ligation, embolization, cyclophosphamide) have been proposed. We report a case in two months old boy of hepatic hemangioendothelioma with arteriovenous shunts and heart congestive failure, successfully treated with steroid.

[Mitral valve prolapse: the clinical and echocardiographic characteristics in a hospital outpatient population]. / Il prolasso della valvola mitrale: caratteristiche cliniche ed ecocardiografiche in una popolazione ambulatoriale ospedaliera.

BACKGROUND: Mitral valve prolapse (MVP) is generally regarded as a benign condition, but serious complications (including severe mitral insufficiency, cerebral ischemia, infective endocarditis, complex arrhythmias and sudden death) have been described in a minority of patients and have been correlated to demographic, clinical and echocardiographic characteristics. Both a lack of standardized definition of MVP in earlier studies and the different ways of recruitment of MVP patients may explain the variability in reported complication rates. METHODS: As an offspring of a larger prospective study this paper focuses on the profile of patients who were found to have MVP by M-Mode and two-dimensional echocardiography in several outpatient hospital departments. A total of 8252 consecutive subjects, examined since March 1990 to February 1991 in the Echo laboratories of the Florence area are considered; according to the presence or absence of structural changes (anterior mitral leaflet thickness > 5 mm, leaflet redundancy and/or anulus dilatation) two groups of patients with MVP (A and B) were identified. RESULTS: A MVP was diagnosed in 288 subjects (3.5%), 170 females (59%) and 118 males (41%), mean age 41 +/- 18 years (range 7-84). 110 (38%) were in Group A, 178 (62%) in Group B. The following parameters differed significantly in the two groups: age (45 +/- 17 vs 39 +/- 17 years; p < 0.003); male gender (50% vs 35%; p < 0.01); auscultatory findings (midsystolic click: 31% vs 68%; p < 0.00001; holosystolic murmur: 22% vs 3%; p < 0.00001); left ventricular diameter (53 +/- 7 vs 48 +/- 5 mm; p < 0.00001) and left atrial diameter (38 +/- 8 vs 33 +/- 5 mm; p < 0.00001). Among patients with mitral regurgitation detected by Color Doppler Echocardiography 65% were in Group A (p < 0.00001). CONCLUSIONS: These patients with MVP are obviously selected by the modality of recruitment; hence there is a higher prevalence of subjects with morphologic abnormalities and mitral regurgitation who are older and more likely to be male if compared to individuals with MVP who are found in the general population. A long-term follow-up of these patients is ongoing: owing to the data of the literature about prognostic predictors, a higher incidence of complications with a different prognosis between the two groups (with or without structural changes of the mitral valve) is expected.

[Congenital arterio-venous malformations: an unusual cause of heart failure at birth and during the first months of life]. / Malformazioni artero-venose congenite: una rara causa di scompenso cardiaco alla nascita e nei primi mesi di vita.

BACKGROUND: Congenital arteriovenous malformations represent a rare cause of heart failure in neonates. MATERIALS: Four neonates with arteriovenous malformations (cerebral in one, hepatic in two and pulmonary in one) are reported. RESULTS: In the first three cases Color Doppler echography was able to image the arteriovenous malformations, to identify the afferent and efferent vessels and to quantify the arteriovenous shunt. In the neonate with pulmonary malformation, a cardiac cause of heart failure was excluded by echocardiography, and the diagnosis was stated by selective angiography. The neonate with cerebral great arteriovenous malformation died at 4th day of life. The two neonates with hepatic malformations improved both with medical therapy; in the last neonate, with multiple arteriovenous pulmonary fistulae, selective embolization was performed, but the child died a few months later. CONCLUSION: Congenital arteriovenous malformations are rare, and an early diagnosis is the base for a correct therapy; Color Doppler echography represents the gold standard for cerebral and hepatic malformations, while selective angiography should be reserved to patients who might profit of embolization or surgical resection.

Natural history of mitral valve prolapse.

To assess the rate and predictors of complications in patients with mitral valve prolapse (MVP), 316 subjects (mean age 42 +/- 15 years) with echocardiographic MVP were followed prospectively for a mean of 102 months: 220 (70%) were women, 225 (71%) had clinically recognized MVP, and 91 (29%) were detected in family studies. During follow-up, 11 patients (0.4/100 subject-years) required mitral valve surgery, 6 died of cardiac causes (0.2/100 subject-years), 7 developed cerebral ischemia (0.3/100 subject-years), and 2 developed active infective endocarditis (0.1/100 subject-years). The overall rate of fatal and nonfatal complications (1/100 patient-years) was higher in men than in women (odds ratio [OR] 3.2, p < 0.003), in subjects aged > 45 than < or = 45 years (OR 3.4, p = 0.002), in clinically recognized patients than in affected family members (OR 3.8, p < 0.02), and in those with a holosystolic murmur (OR 26.9, p < 0.00005); the overall rate was lower in those with a midsystolic click (OR 0.3, p < 0.002). Echocardiographic left ventricular or atrial diameter > or = 6.0 or > or = 4.0 cm, respectively, was associated with a 16.7- and 15.1-fold higher likelihood, respectively, of subsequent complications.(ABSTRACT TRUNCATED AT 250 WORDS)