Pediatric Heart Failure: A Practical Guide to Diagnosis and Management.

Pediatric heart failure represents an important cause of morbidity and mortality in childhood. Currently, there are well-established guidelines for the management of heart failure in the adult population, but an equivalent consensus in children is lacking. In the clinical setting, ensuring an accurate diagnosis and defining etiology is essential to optimal treatment. Diuretics and angiotensin-converting enzyme inhibition are the first-line therapies, whereas beta-blockers and devices for electric therapy are less used in children than in adults. In the end-stage disease, heart transplantation is the best choice of treatment, while a left ventricular assist device can be used as a bridge to transplantation (due to the difficulties in finding organ donors), recovery (in the case of myocarditis), or destination therapy (for patients with systemic disease).

Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement.

AIMS: Prevalence and clinical significance of right atrial enlargement (RAE) has been poorly characterized in hypertrophic cardiomyopathy. METHODS: One hundred and sixty consecutive patients with hypertrophic cardiomyopathy (35.5 ±â€Š20 years; 64% men) were studied. They underwent clinical examination, standard ECG, M-mode, 2D and Doppler echocardiography, stress test and ECG Holter monitoring. Major adverse cardiac events were considered: cardiac death (sudden death, heart failure death); cardiac transplant; resuscitated cardiac arrest or appropriate implantable cardioverter defibrillator discharge. Genetic analysis of eight sarcomeric genes was performed using Sanger sequencing. RESULTS: RAE was observed in 22 patients (14%), associated with left atrial enlargement in all cases. Patients with RAE were likely to have restrictive mitral pattern (P < 0.001) and had higher New York Heart Association (P < 0.001), N-terminal prohormone of brain natriuretic peptide (P < 0.001), left atrial volume index (P < 0.001), lateral (P = 0.04) and septal (P = 0.002) E/e', systolic pulmonary artery pressure (P < 0.001) and lower ejection fraction (all P < 0.001). On cardiopulmonary exercise testing, peak VO2 was lower and VE/VCO2 higher in patients with RAE (P < 0.001). During a mean follow-up of 4 ±â€Š2.1 years, 30 major adverse cardiac events in 24 patients (15%) were observed. Cox proportional hazards regression analysis identified RAE as an independent predictor of major adverse cardiac events (odds ratio = 2.6; confidence interval 1.5-4.6; P = 0.001). In patients with RAE who were genetically tested, there was a higher prevalence of sarcomeric gene mutations (68%), double mutations (16%) and troponin T mutations (21%). CONCLUSION: RAE is present in a small subset of patients with hypertrophic cardiomyopathy, and largely reflects increased pulmonary pressures because of severe diastolic and/or systolic left ventricular dysfunction. Patients with RAE had a higher prevalence of sarcomeric gene mutations, troponin T mutations and complex genotypes. In conclusion, RAE may serve as a very useful marker of disease progression and adverse outcome in patients with sarcomeric hypertrophic cardiomyopathy.

Management of pregnancy in cardiomyopathies and heart failure.

Pregnancy exposes women with inherited cardiomyopathies to increased risk for arrhythmias and heart failure. In asymptomatic patients with inherited cardiomyopathies, pregnancy is generally well tolerated. Preconception evaluation, risk assessment and proper counseling by a team of experienced physicians are mandatory in managing women with inherited cardiomyopathies planning pregnancy. In this paper, we reviewed the clinical course, risk assessment and management during pregnancy of women with cardiomyopathies.

Right ventricular cardiomyopathies: a multidisciplinary approach to diagnosis.

The physiological importance of the right ventricle (RV) has been underestimated over the past years. Finally in the early 1950s through the 1970s, cardiac surgeons recognized the importance of RV function. Since then, the importance of RV function has been recognized in many acquired cardiac heart disease. RV can be mainly or together with left ventricle (LV) affected by inherited or acquired cardiomyopathy. In fact, RV morphological and functional remodeling occurs more common during cardiomyopathies than in ischemic cardiomyopathies and more closely parallels LV dysfunction. Moreover, there are some cardiomyopathy subtypes showing a predominant or exclusive involvement of the RV, and they are probably less known by cardiologists. The clinical approach to right ventricular cardiomyopathies is often challenging. Imaging is the first step to raise the suspicion and to guide the diagnostic process. In the differential diagnosis, cardiologists should consider athlete's heart, congenital heart diseases, multisystemic disorders, and inherited arrhythmias. However, a multiparametric and multidisciplinary approach, involving cardiologists, experts in imaging, geneticists, and pathologists with a specific expertise in these heart muscle disorders is required.

Skeletal muscle involvement in cardiomyopathies.

The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the 'primary' cardiomyopathies and 'primary' neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities). In such patients, skeletal muscle weakness usually precedes the cardiomyopathy and dominates the clinical picture. Nevertheless, skeletal involvement may be subtle, and the first clinical manifestation of a neuromuscular disorder may be the occurrence of heart failure, conduction disorders or ventricular arrhythmias due to cardiomyopathy. ECG and echocardiogram, and eventually, a more detailed cardiovascular evaluation may be required to identify early cardiac involvement. Paediatric and adult cardiologists should be proactive in screening for neuromuscular and related disorders to enable diagnosis in probands and evaluation of families with a focus on the identification of those at risk of cardiac arrhythmia and emboli who may require specific prophylactic treatments, for example, pacemaker, implantable cardioverter-defibrillator and anticoagulation.

Natriuretic peptides: molecular biology, pathophysiology and clinical implications for the cardiologist.

Natriuretic peptides (NPs) counter the effects of volume overload or adrenergic activation of the cardiovascular system. They are able to induce arterial vasodilatations, natriuresis and diuresis, and they reduce the activities of the renin-angiotensin-aldosterone system and the sympathetic nervous system. However, in addition to wall stress, other factors have been associated with elevated natriuretic peptide levels. Since 2000, because of their characteristics, NPs have become quantitative plasma biomarkers of heart failure. Nowadays, NPs play an important role not only in the diagnosis of heart failure, but also for a prognostic purpose and a guide to medical therapy. Finally, a new drug that modulates the NP system or recombinant analogs of NPs are now available in patients with heart failure.

Assessment of left-ventricular mass and remodeling in obese adolescents: M-mode, 2D or 3D echocardiography?

BACKGROUND: Although there have been several studies about the impact of obesity on left-ventricular mass (LVM) and remodeling and their influence on cardiovascular morbidity and mortality, no studies are available on the best echocardiographic technique to study them. In addition, the role of systemic hypertension on LVM in obese adolescents has not been adequately investigated. AIMS: To compare LVM and remodeling pattern assessed by M-mode, two-dimensional (2D) and three-dimensional (3D) echocardiography in obese adolescents, and to correlate LVM with 24-h ambulatory blood pressure measurements. METHODS: We studied 120 adolescents: 86 obese patients by M-mode, 2D and 3D echocardiography and 34 normal individuals by echo and magnetic resonance imaging (MRI). RESULTS: In normal individuals LVM was assessed by 3D echo and had the strongest correlation to MRI. In obese adolescents left-ventricular geometry was abnormal in 27 patients (31%) by 3D echo, in 21 patients (24%) by 2D echo and in 43 patients (50%) by M-mode. Mean SBP was significantly related to relative wall thickness, body mass index (BMI) and LVM/h evaluated by 3D echo [r=0.52 (P<0.0001), r=0.36 (P=0.004) and r=0.28 (P=0.03), respectively]. However, at a multivariate analysis, BMI showed a stronger correlation with LVM/h assessed by 3D compared to mean SBP (r=0.44 and P=0.001 vs. r=0.26, P=0.1). CONCLUSIONS: In young patients LVM assessed by 3D echo had the strongest correlation to MRI compared to 2D and M-mode echo. In obese adolescents, 3D echo showed left-ventricular remodeling in 31% with LVM more significantly correlated with BMI compared to mean SBP.

Usefulness of bidimensional strain imaging for predicting outcome in asymptomatic patients aged ≤ 16 years with isolated moderate to severe aortic regurgitation.

Aortic regurgitation (AR) has increased in the pediatric population because of the expanded use of new surgical and hemodynamic procedures. Unfortunately, the exact timing for operation in patients with AR is still debated. Conventional echocardiographic parameters, left ventricular (LV) dimensions and the LV ejection fraction, have limitations in predicting early LV dysfunction. Two-dimensional strain imaging, an emerging ultrasound technology, has the potential to better study those patients. The aim of this study was to assess the prognostic value of 2-dimensional longitudinal strain in young patients with congenital isolated moderate to severe AR. Twenty-six young patients with asymptomatic AR (aged 3 to 16 years) were studied. The mean follow-up duration was 2.9 ± 1.2 years (range 0.5 to 6). Baseline LV function by speckle-tracking and conventional echocardiography in patients with stable disease was compared with that in patients with progressive AR (defined as development of symptoms, increase in LV volume ≥15%, or decrease in the LV ejection fraction ≤10% during follow-up). LV ejection fractions were similar between groups. The jet area/LV outflow tract area ratio was significantly increased in patients with AR with progressive disease (31.2 ± 5.6% vs 39.2 ± 3.8%, p <0.001). The peak transmitral early velocity/early diastolic mitral annular velocity ratio was significantly increased in patients with progressive AR (p = 0.001). LV average longitudinal strain was significantly reduced in patients with progressive AR compared to those with stable AR (-17.8 ± 3.9% vs -22.7 ± 2.7%, p = 0.001). On multivariate analysis, the only significant risk factor for progressive AR was average LV longitudinal strain (p = 0.04, cut-off value >-19.5%, sensitivity 77.8%, specificity 94.1%, area under the curve 0.889). In conclusion, 2-dimensional strain imaging can discriminate young asymptomatic patients with progressive AR. This could allow young patients with AR to have a better definition of surgical timing before the occurrence of irreversible myocardial damage.

Prolonged left ventricular twist in cardiomyopathies: a potential link between systolic and diastolic dysfunction.

AIMS: Left ventricular (LV) twist and untwist play a major role in LV mechanics. We sought to acquire new pathophysiological insights in cardiomyopathies (CM) studying LV twist dynamics by speckle tracking imaging (STI). METHODS AND RESULTS: Standard echo-Doppler and STI study were performed in 67 CM patients divided in four age- and sex-matched subgroups: 18 with apical hypertrophic cardiomyopathy (Group A); 20 with asymmetrical hypertrophic cardiomyopathy (Group B); 15 with dilated cardiomyopathy (Group C); 14 with LV non-compaction (Group D). As controls, 34 age- and sex-matched normal subjects were studied. Compared with control group, all CM Groups showed significantly lower longitudinal, circumferential, and radial myocardial deformations (P < 0.05). LV twist was correlated with ejection fraction (EF; r = 0.62; P < 0.0001). Furthermore, all CM patients had a significantly lower twist rate (P < 0.05) and delayed onset of untwist (P < 0.01). Of interest a significant correlation was found between isovolumic relaxation time and untwist onset (r= 0.485, P < 0.0001). In addition, a significant correlation was found between longitudinal deformations and the onset of untwist (strain: r = 0.46, P = 0.0001; strain rate: r = 0.33, P = 0.0056) and between longitudinal strain rate and twisting rate (r= -0.38; P = 0.0015). CONCLUSION: (i) All CM patients show an impairment of longitudinal, circumferential, and radial myocardial deformations; (ii) LV peak twist is impaired only in CM with reduced EF but preserved in those with normal or increased EF; (iii) LV twist is prolonged and untwisting onset is delayed in all CM, suggesting that a mechanical adaptation to subclinical systolic abnormalities might induce, by a prolonged LV twist, the early onset of diastolic dysfunction.

Arterial duct stenting: Do we still need surgical shunt in congenital heart malformations with duct-dependent pulmonary circulation?

BACKGROUND: Despite current trends toward primary repair, surgical systemic-to-pulmonary shunt is still an invaluable palliative option in some patients with congenital heart defects and duct-dependent pulmonary circulation. However, arterial duct stabilization with a high-flexibility coronary stent could be an effective alternative in high-risk surgical candidates or whenever short-term pulmonary blood flow support is anticipated. METHODS AND RESULTS: On the basis of ductal origin and morphology, the stenting procedure can be performed from an arterial or venous route. Following arterial duct angiographic imaging, the stabilizing stent is chosen to completely cover the entire ductal length and dilated slightly less than the proposed surgical shunt. Procedural failure depends mainly on ductal tortuosity and ranges around 10% of cases. Morbidity and mortality are 8-11% and less than 1%, respectively. Mid-term fate of the stented duct is spontaneous, slow and progressive closure within a few months. Compared with a Blalock-Taussig shunt, stented ducts result in similar but more uniform pulmonary artery growth over a mid-term follow-up. CONCLUSION: Arterial duct stenting is a technically feasible, well tolerated and effective palliation in congenital heart disease with duct-dependent pulmonary circulation. It is advisable either in high-risk neonates or whenever a short-term pulmonary blood flow support is anticipated. The stented duct appears less durable than a conventional surgical shunt although it is highly effective in promoting a global and uniform pulmonary artery growth.

Non sustained ventricular tachycardia in hypertrophic cardiomyopathy and new ultrasonic derived parameters.

BACKGROUND: The mechanism of sudden death in hypertrophic cardiomyopathy (HCM) is ventricular tachyarrhythmia emanating from myocyte disarray, fibrosis, and inhomogeneity in intramyocardial activation. Tissue synchronization imaging (TSI) allows the measurement of regional delay, while two-dimensional strain can be used to identify myocardial fibrosis. The aim of this study was to assess the relationship between new ultrasonically derived parameters and nonsustained ventricular tachycardia (NSVT) in patients with HCM. METHODS: Ninety-three patients with HCM (mean age, 36 +/- 16 years) and 30 patients with hypertension with secondary left ventricular (LV) hypertrophy (mean age, 42 +/- 10 years; 65% men) were studied. All underwent standard echocardiographic, TSI, and two-dimensional strain examinations. Patients were followed every 3 months for 2 years. Holter monitoring was performed every 3 months. The primary endpoint was the occurrence of NSVT. RESULTS: Twenty-four patients (26%) had >or=1 episode of NSVT. Patients with NSVT had a higher value of maximal LV thickness (22 +/- 6 vs 19 +/- 5 mm, P = .04). There were no significant associations between NSVT on Holter monitoring and LV outflow gradient, New York Heart Association class, syncope, and medical therapy. N-terminal pro-brain natriuretic peptide values were significantly (P = .01) higher in patients with NSTV (1034 +/- 1088 vs 561 +/- 593 pg/mL). Patients with HCM and NSVT had (1) similar values on TSI-studied parameters to patients without NSVT, (2) significant reductions in basal and mid septal strain and in basal anterior-septal strain, and (3) more frequently peak systolic strain >or= -10% (P < .0001). In multivariate analysis, the presence of >3 LV segments with longitudinal two-dimensional strain >or= -10% (sensitivity, 81%; specificity, 97.1%; area under the curve, 0.944; P < .0001) was an independent predictor of NSVT. CONCLUSIONS: Using a simple, inexpensive, easily available, and bedside-usable tool, it was possible to recognize with good sensitivity and specificity patients with HCM at higher risk for NSVT.

Clinical course and risk profile in adolescents with idiopathic dilated cardiomyopathy.

We sought to analyze the prevalence, clinical course, and risk profile of left ventricular systolic dysfunction in adolescents with idiopathic dilated cardiomyopathy. Patients with clinical onset at <13 years (n = 18) or >19 years (n = 14) of age and/or patients followed up for <12 months were excluded. Clinical and biochemical markers were evaluated during 4 +/- 3 years of follow-up to determinate predictors of adverse outcome. A composite end point (hospitalization for worsening heart failure, cardiac transplantation, and death) was investigated. The final cohort consisted of 48 patients (median age 17 years) with idiopathic dilated cardiomyopathy. During follow-up, 11 patients required hospitalization for heart failure (21%) and 6 patients entered the transplantation list (4 underwent orthotopic cardiac transplantation, 8%). A Cox multivariate model evidenced N-terminus pro-brain natriuretic peptide (NT-pro-BNP; odds ratio 1, confidence interval 1 to 1.1, p = 0.001), New York Heart Association (NYHA) classes III to IV (odds ratio 2.5, confidence interval 1 to 5.9, p = 0.04), and electrocardiographic atrial enlargement (odd ratios 6.7, confidence interval 1.8 to 25, p = 0.005) as predictors of adverse events (composite end point) at 60 months. The association of NYHA classes III to IV, electrocardiographic atrial enlargement, and NT-pro-BNP value > or =250 pg/ml (are under the curve 0.88) showed 100% sensitivity, 77% specificity, 62% positive predictive value, and 100% negative predictive value. In conclusion, compared to other clinical, echocardiographic, and biochemical parameters, the combination of advanced NYHA class, electrocardiographic atrial enlargement, and NT-pro-BNP > or =250 pg/ml seem to better predict the risk of adverse events in adolescent with long-term systolic dysfunction.

Right ventricular hypertrabeculation associated with double-outlet left ventricle: exaggeration of a normal pattern or right ventricular cardiomyopathy?

We describe a rare case of double-outlet left ventricle, ventricular septal defect, and subpulmonary valve stenosis surgically corrected by Rastelli procedure, developing severe homograft obstruction with right ventricular dilation and extensive hypertrabeculation/noncompaction during follow-up. We briefly discuss the cause diagnosis, and clinical significance of right ventricular hypertrabeculation/noncompaction.

Transverse strain predicts exercise capacity in systemic right ventricle patients.

BACKGROUND: Because transposition of great arteries (TGA) patients who underwent atrial switch repair (AS) remain asymptomatic for decades before development of symptomatic heart failure, there may be some clinical value to preclinical detection of ventricular dysfunction. Detection of systemic right ventricular (RV) dysfunction in patients who are asymptomatic may prompt early initiation of heart failure therapy and more frequent clinical follow-up. AIM: The objective of this study was to characterize longitudinal and transverse systolic function of the systemic RV using two-dimensional (2D) strain in patients with TGA after AS repair and to correlate these parameters with their exercise capacity. METHODS: The study population consisted of 26 patients (20±6 years) with TGA after AS operation. Conventional echocardiography and bidimensional strain were performed on consecutive patients reporting to the out patient congenital heart disease clinic. Twenty-four healthy, age-matched individuals were used as control subjects. Analysis was performed on the non-systemic RVs of the control group. All the studied patients underwent treadmill exercise testing according to the Bruce II protocol. RESULTS: RV longitudinal 2D-strain in controls showed a base to apex gradient, while in patients was homogeneously reduced. Also RV transverse strain (i.e the radial deformation assessed by the apical 4 chamber view) showed a base to apex gradient in controls, while in patients was significantly increased in the mid and apical segments. In the systemic RV free wall, transverse strain was greater than longitudinal strain (p<0.0001), opposite from findings in the normal RV free wall (p: NS). Of interest, in AS-TGA patients we found a strong correlation between RV transverse 2D strain and exercise capacity (p<0.0001; R: 0.80). At multivariate analysis (including age, degree of tricuspid regurgitation, TAPSE, RV area fractional change, RV visually estimated ejection fraction, RV global longitudinal strain and RV global transverse strain) the best predictor of exercise capacity in AS-TGA patients was transverse 2D strain (p<0.0001). CONCLUSIONS: In AS-TGA patients there is a shift from a predominant longitudinal shortening to a predominant transverse thickening. The transverse thickening assessed by 2D transverse strain is correlated to exercise capacity of these patients. In the follow up of AS-TGA patients the monitoring of RV transverse myocardial deformation properties should be considered more than the simple evaluation of RV longitudinal function.

[Obesity in children and hypertension]. / Obesità in età pediatrica ed ipertensione arteriosa.

According to the World Health Organization, obesity is one of the most common nutritional problem among children. The major determinant of this enormous increase in obesity prevalence is modern lifestyle and the consumption of very caloric foods such as fast-food products. Actually, there is a strong relationship between obesity and hypertension, type 2 diabetes mellitus, dyslipidemia, obstructive sleep apnea, and orthopedic problems. The aim of this review is to discuss the main mechanisms that link obesity to cardiovascular disease.

Atrial myocardial deformation properties in obese nonhypertensive children.

BACKGROUND: Obesity in adulthood is associated with a higher occurrence of atrial arrhythmias. Obese children, without arterial hypertension, may be a unique clinical opportunity to evaluate the effect of obesity, per se, on atrial myocardial function, excluding the influence of possible comorbidities. We sought to define the preclinical effects of obesity on the atrial function of healthy children with excess weight who have no other clinically appreciable cause of heart disease, by using the more sensitive ultrasonic-derived strain (S) and S rate imaging. METHODS: We studied 320 children divided into two groups: obese children (group O; n = 160; age 12 +/- 3 years); and healthy lean children, comparable for age, sex, and pubertal stage (referents; n = 160; mean age 12 +/- 3 years). RESULTS: Systolic blood pressure (BP) and diastolic BP, as well as 24-hour systolic BP and 24-hour diastolic BP were comparable between groups. Left ventricular mass/height(2.7) and left atrial dimensions were increased (P < .0001) in group O (46 +/- 12 g/m(2.7)) compared with referents (31 +/- 14 g/m(2.7)). Standard echocardiographic indices of global left ventricular systolic function were similar in the two groups. Obese children showed atrial peak systolic S rate (2.5 +/- 1.2 (s-1)) values lower (P < .0001) than that of referents (4.9 +/- 1.6(s-1)) in both left and right atria. In multivariable analysis, average peak systolic atrial S was significantly correlated with glycemia (P < .05, coefficient -0.23), body mass index (P < .01, coefficient -0.19), and left ventricular mass (P < .05, coefficient -0.17). CONCLUSIONS: Our study demonstrated that obesity, in absence of hypertension, is associated with reduced atrial myocardial deformation properties already in childhood involving both right and left atria.

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.

We report a severe, biventricular obstructive cardiomyopathy in a young female with Costello syndrome, who underwent a right ventricular myectomy for symptoms relief. We discuss potential clinical implications and management of severe hypertrophy in Costello syndrome.

Abnormal regional myocardial deformation properties and increased aortic stiffness in normotensive patients with aortic coarctation despite successful correction: an ABPM, standard echocardiography and strain rate imaging study.

The long-term follow-up data subsequent to a successful repair of AoC (aortic coarctation) show that life expectancy remains reduced. Previous standard echocardiographic studies have demonstrated normal or increased systolic cardiac function in patients following successful repair of AoC. SR (strain rate) imaging is a new technique able to detect subclinical myocardial abnormalities. In the present study we investigated whether young patients (without hypertension, as assessed using ambulatory blood pressure monitoring and an exercise test) following successful AoC repair already have abnormal myocardial deformation properties, and the relationship of the deformation properties with aortic stiffness. We studied 166 subjects, 83 AoC non-hypertensive patients (mean age 12+/-4 years) a number of years after successful repair of AoC and 83 age- and sex-matched subjects as controls. Peak systolic SR (1/s) for both regional longitudinal and radial function was assessed. The aortic stiffness index was calculated from the echocardiographically derived thoracic aortic diameters, and the measurement of blood pressure was obtained by cuff sphygmomanometry. The LV (left ventricular) ejection fraction was significantly increased in AoC patients, whereas regional longitudinal SRs were significantly reduced (-1.1+/-0.9 compared with -2+/-0.5, P<0.0001) in patients. The aortic stiffness index was significantly increased in AoC patients (12+/-9, P<0.0001). At multilinear regression analysis, age at repair (P=0.005; coefficient, -0.201; S.E.M., 0.027) and the aortic stiffness index (P=0.0029; coefficient, 0.334; S.E.M., 0.423) predicted longitudinal SR. Despite the presence of a successful repair for AoC, in the absence of hypertension, longitudinal deformation properties were significantly impaired. Moreover, the degree of longitudinal SR impairment was correlated with age at repair and aortic stiffness. Early repair can delay the onset of hypertension in postcoarctectomy patients, but cannot prevent the innate structural and functional abnormalities of the aorta and their deleterious effect on myocardial deformation properties.

[Evaluation of atrial function by echocardiography]. / Valutazione ecocardiografica della funzione atriale nelle patologie cardiache.

In cardiology, ventricular function has extensively been studied, whereas atrial function received less attention. For such a reason atrial function is less known. The aim of this review was to summarize the role of atrial function and to explain how echocardiography and new echocardiographic-derived techniques may be of help to better study atrial function.

Left ventricle myocardial mechanics and textural properties in patients with Williams syndrome.

OBJECTIVE: To study left ventricular mechanics and textural properties in patients with Williams syndrome to define the impact of left ventricular hypertrophy on the functional findings. METHODS: Echocardiography was performed in 16 Williams syndrome patients (aged 1-25 years, mean 10 +/- 6 years), four with associated supravalvular aortic stenosis and seven with systemic hypertension. Fifteen age- and body surface area-matched subjects were selected as control group. Particularly, left ventricular geometry, myocardial contractility [midwall rate-corrected circumferential fiber shortening/end-systolic meridional wall stress relationship (sigmaes)] and left ventricular diastolic function (mitral flow pattern and isovolumic relaxation time) were defined. In addition, integrated backscatter (IB) analysis intensity (IntIB) and cyclic variation (CVIB) were assessed for an ultrasonic myocardial characterization. RESULTS: Left ventricular hypertrophy was demonstrated in nine patients (56%) and abnormal left ventricular remodeling in ten patients (62%). Particularly seven of seven hypertensive patients and three of four patients with supravalvular aortic stenosis had abnormal remodeling; left ventricular geometry was normal in patients without hypertension or supravalvular aortic stenosis. In addition, midwall rate-corrected circumferential fiber shortening/(sigmaes) relationship was within the normal range in all patients. At integrated backscatter analysis, Williams syndrome patients showed, both at interventricular septum and posterior wall, reduced CVIB (9.36 +/- 2.16 versus 10.3 +/- 1.3 and 8.65 +/- 2 versus 10.5 +/- 1.1). Compared to Williams syndrome patients without left ventricular hypertrophy (7/16), those with left ventricular hypertrophy (9/16) showed decreased mitral E/A ratio (1.32 +/- 0.09 versus 1.62 +/- 0.02), increased isovolumic relaxation time (68 +/- 7 versus 53 +/- 7) and increased IntIBS at interventricular septum (-27.3 +/- 0.07 versus -34 +/- 5). CONCLUSIONS: Our data obtained in young Williams syndrome patients show that: (i) mild left ventricular functional and textural abnormalities may be detected also in absence of significant supravalvular aortic stenosis and/or hypertension; (ii) significant left ventricular hypertrophy may develop since childhood; (iii) differences in left ventricular remodeling and/or degree of left ventricular hypertrophy may occur. Further studies are required to define the real impact of the functional abnormalities on the natural history in patients with Williams syndrome.