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Biomedical subjects

Giuseppe Pacileo

Publications and source records attributed to Giuseppe Pacileo.

At least 19 recordsLinked to original sources
PubMed2006

Myocardial infarction in a young athlete with non-obstructive hypertrophic cardiomyopathy and normal coronary arteries.

We describe an acute myocardial infarction in a young athlete with non-obstructive hypertrophic cardiomyopathy (HCM) and normal coronary arteries. A 18 year old athlete came to our attention for dispnoea and chest pain during effort. Echocardiography showed non-obstructive HCM, with restrictive physiology. Cardiac catheterization and coronary angiography showed elevated pulmonary artery pressure and normal coronary arteries. He was discharged on sotalol and diuretics. Nine months later, he was resuscitated from a cardiac arrest during mild effort. The ECG revealed a high rate of atrial fibrillation with significant ST-T changes, and echocardiography an akinesia of interventricular septum. Cardiac enzymes were elevated. The coronary angiogram showed normal coronary arteries. This case is important as a reminder that acute myocardial infarction is not only due to coronary artery disease, and that atrial fibrillation may represent a trigger of serious cardiovascular events in patients with HCM.

Adolescent↗
PubMed2006

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a>g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13+/-3% less than normal and the affinity of actin for the Z-line protein alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.

Actinin↗
PubMed2006

Abnormal myocardial deformation properties in obese, non-hypertensive children: an ambulatory blood pressure monitoring, standard echocardiographic, and strain rate imaging study.

AIMS: The prevalence of obesity is increasing among children in the developed world. The association of obesity and abnormal cardiac function is still debated. The reported changes may reflect the role of comorbidities that contribute to ventricular dysfunction. Obese children, without arterial hypertension, may be a unique clinical opportunity to evaluate the effect of obesity, per se, on myocardial function, excluding the influence of possible comorbidities. We sought to define the preclinical effects of obesity on the cardiovascular system, of healthy children with excess weight who have no other clinically appreciable cause of heart disease, using the more sensitive ultrasonic-derived strain and strain rate (SR) imaging. METHODS AND RESULTS: We studied 300 subjects divided into two groups: (i) obese children (Group O: n=150; age, 12+/-3 years); (ii) healthy lean children comparable for age, sex, and pubertal stage (Referents: n=150; mean age, 12+/-3 years). Systolic (SBP) and diastolic blood pressure (DBP), as well as 24 h-SBP and 24 h-DBP were comparable between groups. Left ventricular (LV) mass/height(2.7) was increased (P<0.0001) in Group O (46+/-12 g/m(2.7)) when compared with Referents (31+/-14 gm(2.7)). Standard echocardiographic indices of global systolic function were similar in the two groups. Intima-media thickness measured at the common carotid artery was not significantly different (P=0.4) in obese children (0.46+/-0.09 mm) when compared with Referents (0.45+/-0.07 mm). Obese children showed regional longitudinal peak systolic myocardial deformation properties (SR=-1.4+/-0.7 s(-1)) lower (P<0.0001) than those of Referents (SR=-2.2+/-0.5) in both left and right ventricle. In multivariable analysis, average peak systolic SR was significantly correlated with homeostasis model assessment of insulin resistance (P<0.01; coefficient, 0.02; SE, 0.011), and insulin serum concentration (P<0.01; coefficient, 0.05; SE, 0.023). Average LV peak systolic strain was significantly correlated with body mass index (P=0.0001; coefficient, 0.06; SE, 0.016), LVM/H(2.7) (P=0.006; coefficient, 0.016; SE, 0.018). CONCLUSIONS: Our study demonstrated that obesity, in absence of hypertension, is associated with significant reduction in systolic myocardial deformation properties already in childhood involving both right and left ventricle. Obesity not only is a risk factor for later cardiovascular disease, but also is associated with contemporaneous and significant impairment of longitudinal myocardial deformation properties.

Blood Pressure↗
PubMed2006

LEOPARD syndrome: clinical diagnosis in the first year of life.

LEOPARD syndrome (LS) is an autosomal dominant syndrome characterized by multiple lentigines and café-au-lait spots, electrocardiographic-conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmonary stenosis, abnormalities of the genitalia in males, retardation of growth, and deafness. LS shares many features with Noonan syndrome (NS), in which lentigines and deafness are usually not present. Molecular studies have shown that LS and NS are allelic disorders, caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q22-qter. The clinical diagnosis of LS is generally difficult in the first months of life because the distinctive lentigines are generally not present at birth and develop during childhood. From January 2002 to December 2004, we suspected LS clinically in 10 patients admitted to our genetic counseling services in the first 12 months of life. A PTPN11 gene mutation was detected in 8/10 (80%) patients. In one patient without a PTPN11 mutation a subsequent clinical diagnosis of neurofibromatosis type 1 (NF1) was made, following the evaluation of the mother, who had previously undiagnosed classic NF1. The age of LS patients with PTPN11 mutation ranged between 1 and 11 months (mean age +/- SD 7.5 +/- 3.96 months). Review of the clinical characteristics of patients with LS confirmed by molecular study during the first year of life demonstrates that the diagnosis of LS in the first months of age can be clinically suspected in patients presenting with three main features, that is, characteristic facial features (100%), hypertrophic cardiomyopathy (HCM) (87%), and cafe-au-lait spots (75%). Characteristic facial features can be mild or severe, and consist of hypertelorism, downslanting palpebral fissures, ptosis, and dysmorphic ears. The clinical suspicion of LS may be confirmed by molecular screening for PTPN11 mutations. An early diagnosis of the disease is useful for the prospective care of associated medical problems and for precise genetic counseling.

DNA Mutational Analysis↗
PubMed2006

Is sudden cardiac death predictable in LEOPARD syndrome?

We report the sudden cardiac death of a young male presenting with classic clinical features of LEOPARD syndrome, shown to be due to a mutation in the PTPN11 gene, and severe non obstructive hypertrophic cardiomyopathy. We also discuss briefly the usefulness of prophylactic risk stratification in patients with syndromic and non syndromic hypertrophic cardiomyopathy.

Adult↗
PubMed2006

Noninvasive risk stratification prevents sudden death due to paroxysmal atrial fibrillation in hypertrophic cardiomyopathy.

Sudden death is a tragic complication of hypertrophic cardiomyopathy. We report the case of a young patient with hypertrophic cardiomyopathy in whom an episode of atrial fibrillation triggered ventricular fibrillation and cardiac arrest. A 21-year-old man with nonobstructive hypertrophic cardiomyopathy underwent cardioverter-defibrillator implantation for primary prevention of sudden death, after risk stratification with noninvasive strategies. After 6 weeks, during a moderate effort, the patient had a syncopal episode, preceded by palpitations and dizziness, and terminated by the cardioverter-defibrillator. Device interrogation revealed an episode of atrial fibrillation with high ventricular response, spontaneously followed by ventricular tachycardia/fibrillation. Atrial fibrillation is a potential trigger of life-threatening arrhythmias and sudden death in patients with hypertrophic cardiomyopathy. Clinical investigation of risk markers for sudden death should be encouraged to identify high-risk patients who may benefit from a prophylactic therapy with an implantable cardioverter-defibrillator.

Adult↗
PubMed2006

Left ventricular remodelling in outflow tract obstructive lesions during fetal life.

OBJECTIVE: Left ventricular (LV) remodelling in prenatally diagnosed LV outflow tract obstructive lesions such as aortic stenosis and aortic coarctation is important for prenatal counselling and postnatal management. The purpose of this study was to document the spectrum and the progression of different LV remodelling patterns and to identify prenatal markers of hypoplastic left heart syndrome (HLHS). METHODS: We studied 29 fetuses with LV outflow tract obstruction: 13 with isolated aortic stenosis, 14 with isolated aortic coarctation and two with combined aortic stenosis and aortic coarctation. Echocardiographic evaluation was performed 4 and 8 weeks after the first observation and at birth. RESULTS: None of the fetuses had HLHS (LV end-diastolic diameter z score higher than -2) at first prenatal echocardiography (24.5 + or - 3.6 weeks). Fetuses were divided into two groups: group A (n = 25) with a LV end-diastolic volume at birth > 20 ml/m(2); group B (n = 4) with a LV end-diastolic volume at birth < 20 ml/m(2) (LV hypoplasia). At first echocardiographic evaluation, the two groups showed a significantly different aorta to pulmonary ratio (0.44 + or - 0.08 vs. 0.86 + or - 0.14; P < 0.001); other LV echocardiographic features were not significantly different. The growth of the mitral (0.10 + or - 0.02 vs. 0.43 + or - 0.28 mm/week; P < 0.02) and aortic annulus (0.08 + or - 0.01 vs. 0.26 + or - 0.14 mm/week; P < 0.05) was significantly slower in group B. CONCLUSIONS: Our data suggest that LV outflow tract obstruction can progressively evolve in HLHS during pregnancy. A smaller aorta to pulmonary ratio was the only significant difference at initial echocardiographic evaluation in the two groups. Moreover, serial echocardiographic examinations are necessary to recognize fetuses at risk for HLHS caused by a subnormal growth rate of the mitral and aortic annulus.

Cardiac Surgical Procedures↗
PubMed2005

Left ventricular hypertrophy in Caucasian master athletes: Differences with hypertension and hypertrophic cardiomyopathy.

AIM: To study, by conventional echocardiography, left ventricular remodelling and function in master athletes, hypertension and hypertrophic cardiomyopathy. METHODS: We studied 30 master athletes (MA; soccer players; mean age 43.9+/-5.9), 24 subjects with essential hypertension (HYP; 46.6+/-6), 20 patients with hypertrophic cardiomyopathy (HCM; 42.2+/-9) and 30 normal individuals (CG; 43.4+/-5). An integrated M-mode/two-dimensional echocardiographic analysis was performed to determine chambers dimensions, relative wall thickness (RWT) and left ventricular mass (LVM), indexed to height in meters raised to the power of 2.7 (LVM/h(2.7)). Cut-off levels for LVM/h(2.7) and RWT were defined to assess 4 different patterns of LV geometric remodelling. In addition, we measured indexes of global systolic performance and indexes of global diastolic function. RESULTS: LV wall thickness and LV end-diastolic dimensions were higher in MA than controls, but significantly lower than other groups. LVH/h(2.7) was increased in 79% of HYP and in 95% of HCM, but was within the normal limits in MA. LV geometry was normal in 22 out of 30 MA (73%), while the remaining (8 athletes, 27%) showed a concentric remodelling. Systolic function (FS and EF) was normal in MA, but was slightly reduced in HYP and increased in HCM. Analysis of diastolic function showed an abnormal relaxation pattern in all HYP and 95% of HCM, but was normal in all MA. The ratio between peak filling rate and stroke volume (PFR/SV), a relatively independent index of diastolic function, was significantly greater in hypertensive patients with normal LV remodelling compared to those without it (4+/-0.39 vs. 4.91+/-0.19; P = 0.0002). CONCLUSION: MA showed lower values of wall thickness, LV dimensions and LV mass compared with HYP and HCM. Despite an abnormal remodelling, all the athletes showed a normal systolic and diastolic function. The differential diagnosis between MA, HYP and HCM is feasible by accurate, comprehensive standard Doppler echocardiography.

Adult↗
PubMed2005

Comparison of strain rate imaging for quantitative evaluation of regional left and right ventricular function after surgical versus percutaneous closure of atrial septal defect.

For the first time, peak systolic strain and strain rate (SR) were used to assess right ventricular (RV) and left ventricular (LV) regional function in children after transcatheter and surgical atrial septal defect (ASD) closure. Fifteen patients with successful ASD device closure (the ASD-D group, mean age 9 +/- 3 years), 15 age- and gender-matched patients with successful ASD surgical closure (the ASD-S group, mean age 9 +/- 3 years), and 15 age- and gender-matched controls were enrolled. Regional RV and LV longitudinal function was significantly reduced in the ASD-S group compared with controls in all the studied segments. The ASD-D group presented significantly (p <0.001) reduced strain and SR values only on the basal and mid segments of the septal wall compared with controls. In the ASD-D group, only the RV basal segment showed significantly (p <0.001) reduced strain and SR values compared with controls but significantly greater values than those measured in the ASD-S group. SR imaging indexes could provide new, noninvasive, clinically relevant insight into regional changes in RV function and support the transcatheter approach to ASD for its less negative impact on RV and LV function.

Balloon Occlusion↗
PubMed2005

Congenital heart disease in a population of dizygotic twins: an echocardiographic study.

BACKGROUND: Congenital heart disease (CHD) is the most common malformation in the fetal and neonatal period but little is known about its cause. The distribution analysis of CHD in dizygotic twins could provide a useful tool to evaluate the role of genetic and environmental factors in the development of CHD. Dizygotic twins are siblings with different genes, growing together in the same womb. AIM OF STUDY: To investigate the occurrence of CHD in a large sample of dizygotic twins of nonconsanguineous healthy parents, comparing the data from non-twin patients. METHODS: From January 1999 to December 2002, we enrolled 1743 CHD patients with, at least 1 sibling, and 66 pairs of dizygotic twins, referred to our tertiary center. The diagnosis of CHD was based on clinical and echocardiographic evaluation. RESULTS: Considering only the sibling nearest in age for each non-twin patient the recurrence was 67/1743 (3.8%). Among these 67 patients, 35 (52.2%) had a sibling with the same or similar CHD. Conversely, considering all 1886 siblings, recurrence of CHD in the non-twin group was 70/1743 (4%). Of the 70 patients, 36 (36/70, 51.4%) had a sibling with the same suspected pathogenic mechanism of CHD. In 9/66 pairs of twins (13.6%), both siblings had a CHD. In the nine pairs of twins in whom both siblings had a CHD, the percentage of concordance (based on the suspected pathogenic mechanism) for CHD was 100% (p<0.05). CONCLUSIONS: Our findings suggest that the higher recurrence and concordance of CHD found in dizygotic twins could depend on some poorly identified environmental risk during the pregnancy.

Adult↗
PubMed2005

Atrial myocardial deformation properties predict maintenance of sinus rhythm after external cardioversion of recent-onset lone atrial fibrillation: a color Doppler myocardial imaging and transthoracic and transesophageal echocardiographic study.

BACKGROUND: Accurate echocardiographic parameters to predict maintenance of sinus rhythm in patients with atrial fibrillation (AF) are poorly defined. This study was conducted to assess the atrial myocardial properties during AF through myocardial velocity, strain rate, and strain and to compare their prognostic value in maintaining sinus rhythm in patients with lone AF with standard transthoracic (TTE) and transesophageal echocardiography (TEE). METHODS AND RESULTS: Sixty-five consecutive patients with lone AF for < or =3 months underwent TTE, TEE, and myocardial velocity and strain and strain rate imaging examinations before successful external cardioversion. Maintenance of sinus rhythm was assessed during a 9-month follow-up. Atrial myocardial velocity, strain, and strain rate values in AF patients were compared with those of age- and sex-matched referents. Moreover, clinical and echocardiographic parameters of patients with maintenance of sinus rhythm (MSR patients) over the 9-month follow-up period (n=25) were compared with those from patients with AF recurrence (AFR patients; n=40). Atrial myocardial properties assessed by myocardial velocity, strain rate, and strain were significantly reduced (P<0.0001) in patients (velocity, 3.2+/-1.4 cm/s; strain, 23.3+/-19%; strain rate, 2+/-0.9 seconds(-1)) compared with referents (velocity, 5.7+/-1.3 cm/s; strain, 92+/-26%; strain rate, 4.2+/-1.8 seconds(-1)). The individual predictors of sinus rhythm maintenance were atrial appendage flow velocity (MSR patients, 39+/-12 cm/s; AFR patients, 32+/-15 cm/s; P<0.01) assessed by TEE and atrial strain (MSR patients, 33+/-27%; AFR patients, 17+/-9%; P=0.0007) and strain rate (MSR patients, 2.7+/-1 seconds(-1); AFR patients, 1.6+/-0.6 seconds(-1); P<0.0001) peak systolic values. Atrial strain (P<0.0001; coefficient, 0.015; SE, 0.003) and strain rate (P<0.0001; coefficient, 0.372; SE, 0.075) parameters alone were confirmed as independent predictors of sinus rhythm maintenance by multivariable analysis. CONCLUSIONS: Patients with higher atrial strain and strain rate appear to have a greater likelihood of staying in sinus rhythm. If the current data are verified in future studies, then additional pharmacological therapy and maintenance of anticoagulants for a longer period may need to be considered in those with lower atrial strain and strain rate measurements.

Adult↗
PubMed2005

Familial recurrence of congenital heart disease in patients with ostium secundum atrial septal defect.

AIMS: Ostium secundum atrial septal defect (osASD) is one of the most common cardiac malformations. Few data are available on the familial recurrence of congenital heart disease (CHD), in particular, in a large group of patients with isolated osASD. The aim is to investigate the familial recurrence of CHD in up to third-degree relatives from a large sample of consecutively enrolled patients with osASD, taking into account the influence of degree of relatedness (as number of relatives). METHODS AND RESULTS: From January 1998 to December 2002, we enrolled 583 patients with osASD and 408 healthy subjects, referred to our tertiary centre. We hypothesized that a positive family history required at least one relative with CHD to constitute a risk factor. In this model of analysis, the null hypothesis is a similar familial history between cases and controls. Among 583 patients with osASD, 109 (19%) had at least one relative with CHD. Among the 408 healthy subjects studied, only 23 (6%) had a family history of CHD. A familial recurrence of CHD was demonstrated in 72 of 312 (23%) patients with isolated osASD and in 37 of 271 (13.6%) patients with non-isolated osASD. Familial recurrence of isolated osASD was demonstrated in 22 of 312 patients (7%) with an isolated osASD and only in six of 271 patients (2.2%) with non-isolated osASD. The familial recurrence risk of isolated osASD in patients with isolated osASD was higher in sibs, especially in sisters (33.3%). CONCLUSION: This study underscores the role of genetic factors in the determination of CHD, particularly osASD. Our results could represent the basis for further studies to calculate a 'value of family history' to adapt the familial recurrence to the real size of each family group. In this way, we could select families with a 'tendency' to develop CHD, particularly osASD. In these families, we could analyse the genetic pattern to establish abnormalities and the bases of CHD.

Case-Control Studies↗
PubMed2005

Early myocardial abnormalities in asymptomatic patients with severe isolated congenital aortic regurgitation: an ultrasound tissue characterization and strain rate study.

BACKGROUND: Aortic valve regurgitation (AR) in the pediatric population has increased in recent years because of the expanded use of new surgical and hemodynamic procedures. Unlike adult patients, few predictors for the need of operation have been proposed in young asymptomatic or mildly symptomatic patients with AR. METHODS: To unmask early abnormalities of left ventricular (LV) function, 59 participants were enrolled: 14 asymptomatic patients (mean age 18 years) with congenital isolated severe AR and normal LV function (LV ejection fraction > 50%); and 45 healthy control subjects with comparable age and body surface area. All the studied population underwent standard echocardiographic examination, integrated backscatter, and strain rate imaging study. RESULTS: Conventional echocardiographic indices of global LV systolic performance for patients with AR were similar to that of control subjects. Compared with control subjects, integrated backscatter analysis demonstrated a significant reduction in cyclic variation in both septal and posterior walls ( P < .05). LV radial and longitudinal deformation properties for patients with AR were significantly reduced ( P < .05) as assessed by peak systolic strain rate. CONCLUSION: Our results demonstrated the ability of integrated backscatter and strain rate imaging to detect early subclinical abnormalities in young patients with severe congenital AR despite the presence of a normal ejection fraction.

Adolescent↗
PubMed2005

Strain rate imaging is a superior method for the assessment of regional myocardial function compared with Doppler tissue imaging: a study on patients with transcatheter device closure of atrial septal defect.

To compare the value of strain and strain rate imaging in assessing regional myocardial function to that of myocardial velocities, we studied 10 patients late after successful percutaneous atrial septal defect closure. Analysis was performed for atrial longitudinal peak systolic velocity, strain, and strain rate from the midsegment of interatrial septum, in correspondence of the device, and from the lateral left atrial wall. Placing the sample volume in the middle part of the atrial septal defect occluder, a bulky noncontractile element, passively moved by global heart motion, the new ultrasonic-derived myocardial deformation indexes demonstrated almost the absence of any deformations, whereas myocardial velocities failed to significantly discriminate between this noncontracting structure and the normal atrial wall.

Child↗
PubMed2005

Atrial function after surgical and percutaneous closure of atrial septal defect: a strain rate imaging study.

The effect of operation and the effect of the imposition of an occluding device on atrial function for patients with an atrial septal defect (ASD) has never been studied. Thus, the aim of this study was to evaluate for the first time both left atrial (LA) and right atrial (RA) function of children after transcatheter ASD closure with that of sex- and age-matched patients with surgically treated ASD, and sex- and age-matched control subjects using strain (epsilon) and epsilon rate imaging (SR). In all, 45 participants formed our studied sample: 15 patients after successful ASD device closure (ASD-D [atrial septal defect device closure] group, mean age: 9 +/- 3 years) and 15 age- and sex-matched patients after successful ASD surgical closure (ASD-S [atrial septal defect surgical closure] group, mean age: 9 +/- 3 years). All patients underwent ASD correction at least 6 months before the study. As a control group we selected 15 age- and sex-matched control subjects. In the ASD-S group the peak systolic epsilon and SR values were significantly reduced in both RA and LA when compared with control and ASD-D groups (P < .01). In the ASD-D group there was no significant difference in both LA and RA deformation properties when compared with control subjects. SR imaging indexes could provide new, noninvasive, clinically relevant insight on regional changes in atrial function for patients with ASD. ASD percutaneous closure is useful not only because it is less expensive and invasive than open-heart operation but also for its conservation of both LA and RA regional myocardial properties.

Atrial Function↗