Mitochondrial lineage A2ah found in a pre-Hispanic individual from the Andean region.

OBJECTIVES: The aim of this study was to contribute to the knowledge of pre-Hispanic Andean mitochondrial diversity by analyzing an individual from the archaeological site Pukara de La Cueva (North-western Argentina). The date of the discovery context (540 ± 60 BP) corresponds to the Regional Developments II period. METHODS: Two separate DNA extractions were performed from dentin powder of one tooth. HVR I was amplified by PCR from each extract in three overlapping fragments and the haplotype was determined by consensus among all obtained sequences. The procedures were carried out under strict protocols developed for working with ancient DNA. RESULTS: The individual belonged to the A2ah lineage due to the presence of the 16097C and 16098G transitions, which constitute its distinctive motif. This lineage is very rare in Native American populations and was described in four individuals from current groups inhabiting the Bolivian Llanos, two from South-eastern Brazil, and one from the Gran Chaco region. In addition, two other mutations (16260T and 16286T) were shared with one of the individuals from the Bolivian Llanos region. CONCLUSIONS: Considering that the origin of this lineage was postulated for the South American lowlands, the present pre-Hispanic discovery in the Andean area could be taken as a new evidence of gene flow between these regions. Also, it allows the questioning of the geographical origin of this mitochondrial lineage.

Physiologic and pathophysiologic changes in the right heart in highly trained athletes.

Exercise causes changes in the heart in response to the hemodynamic demands of increased systemic and pulmonary requirements during exercise. Understanding these adaptations is of great importance, since they may overlap with those caused by pathological conditions. Initial descriptions of athlete's heart focused mainly on chronic adaptation of the left heart to training. In recent years, the substantial structural and functional adaptations of the right heart have been documented, highlighting the complex interplay with left heart. Moreover, there is evolving evidence of acute and chronic cardiac damage, mainly involving the right heart, which may predispose subjects to atrial and ventricular arrhythmias, configuring an exercise-induced cardiomyopathy. The aim of this article is to review the current knowledge on the physiologic and pathophysiologic changes in the right heart in highly trained athletes.

Heart failure: molecular, genetic and epigenetic features of the disease.

Factors that compete to establish heart failure (HF) are not completely known. In the last years the several technological improvements allowed us to deeply study the molecular and genetic aspects of this complex syndrome. This new approach to HF based on molecular biology new discoveries shows us more clearly the pathophysiological bases of this disease, and a future scenery where the genetics may be useful in the clinical practice, as screening of high risk populations, as well as in the diagnosis and therapy of underlying myocardial diseases. The purpose of this review was to analyse the molecular, genetic and epigenetic factors of HF. We described the molecular anatomy of the sarcomere and the pathogenesis of the heart muscle diseases, abandoning the previous monogenic theory for the concept of a polygenic disease. Different actors play a role to cause the illness by themselves, modifying the expression of the disease and, eventually, the prognosis of the patient.

Partial atrioventricular septal defect in the fetus: diagnostic features and associations in a multicenter series of 30 cases.

OBJECTIVE: To assess the anatomical features and the associations of partial atrioventricular septal defect (pAVSD) in the fetus. METHODS: This was a retrospective multicenter study of 30 cases of confirmed pAVSD seen since 1996 at two referral centers. The following variables were available for analysis in all cases: indications for fetal echocardiography, diagnostic features, associated cardiac, extracardiac and chromosomal anomalies and fetoneonatal outcome. At fetal echocardiography, the echocardiographic features deemed indicative of pAVSD were: 1) ostium primum atrial septal defect and 2) loss of the normal offset appearance of the atrioventricular valves. RESULTS: Eighteen of the 30 (60%) cases were diagnosed before 24 weeks of gestation and 12 were diagnosed later. Suspicion of congenital heart disease and known aneuploidy (trisomy 21) accounted for 60% of the referral indications. The two anatomical landmarks deemed indicative of pAVSD were detected in all cases at echocardiography. Twelve cases were isolated (one with increased nuchal transluceny at the 12-week scan, one with polyhydramnios, one with fetal growth restriction) including four that were detected on routine ultrasound examination by the authors. Additional cardiac anomalies were present in five (17%) cases, four of which involved aortic coarctation. There were associated chromosomal anomalies in 13 (43%); however, excluding the six cases referred because of known Down syndrome, the adjusted association rate with aneuploidy was 29.2% (7/24). Extracardiac anomalies, including non-chromosomal syndromes, were present in 10 cases (33.3%). Regarding fetoneonatal outcome, there were 13 terminations of pregnancy, one early neonatal death and 16 survivors, including four with mild to severe neurodevelopmental delay due to associated syndromic conditions. CONCLUSIONS: We describe the key echocardiographic features of pAVSD in the fetus. In addition, we have confirmed that the association with trisomy 21 holds also for pAVSD, though to a lesser extent, with a 12.5% association rate in this series. In the fetus, pAVSD seems to be associated with a high rate of chromosomal/non-chromosomal syndromic conditions, including skeletal dysplasias. Inutero, aortic coarctation represents the most frequently associated cardiac lesion (13.3%).

Transposition of the great arteries in the fetus: assessment of the spatial relationships of the arterial trunks by four-dimensional echocardiography.

OBJECTIVE: Coronary arterial abnormalities can be one of the few negative prognostic indicators in transposition of the great arteries (TGA), and their occurrence is related to the type of spatial relationship of the great arteries. The main objective of this study was to assess whether the use of the reconstructed en-face view with color Doppler imaging of the four cardiac valves can demonstrate the different types of spatial relationship of the arterial trunks in fetuses with TGA, in order to derive the risk of coronary abnormalities. A secondary end-point was the evaluation of the type of coronary arterial branching pattern. METHODS: Twenty-three fetuses with a confirmed diagnosis of TGA underwent four-dimensional (4D) echocardiography at 19-33 gestational weeks. The en-face view of the four cardiac valves and color Doppler with high persistence were employed to assess the spatial relationships of the great arteries. In all cases, confirmation of the vessels' arrangement and coronary arterial distribution was obtained at neonatal echocardiography and/or surgery. RESULTS: The spatial relationships of the great vessels was identified correctly in 20/23 (87%) cases. The aorta was found to be located anterior to and to the right of the pulmonary trunk in 13/23 (56.5%) cases and just anterior to the pulmonary artery in 6/23 (26.1%) cases; in the remaining four (17.4%) cases, the two vessels were side by side. With respect to the association between the spatial relationship of the great arteries and the occurrence of an unusual pattern of coronary arterial branching, five of the TGA fetuses had abnormal coronary arterial distribution. CONCLUSIONS: Using 4D echocardiography with color Doppler, it is possible to define the spatial relationships of the great arteries in fetuses with TGA with a high degree of accuracy. This information can be used during counseling to predict the likelihood of abnormal coronary arterial distribution.

Atenolol vs enalapril in young hypertensive patients after successful repair of aortic coarctation.

Late arterial hypertension has been identified as a major predictor for morbidity and mortality in aortic coarctation (AoC) patients. Few data are available about efficacy and tolerability of angiotensin converting enzyme inhibitors vs beta-blockers in young AoC patients. This study aimed to evaluate the tolerability and efficacy on 24-h blood pressure (BP) and left ventricular mass/height(2.7) (LVMI), of atenolol vs enalapril. We enrolled consecutive AoC hypertensive patients with (a) no history of BP treatment or after >48 h of withdrawn, (b) aged 6-20 years, (c) body mass index (BMI) <90th percentile for age and sex, (d) >12 months from a successful AoC repair and (e) no major associated cardiovascular abnormalities. All patient were evaluated with 24-h ambulatory BP monitoring, standard echocardiography, strain-strain rate imaging, at enrolment, 3, 6 and 12 months of treatment. We studied 51 AoC patients (13±3.9 years, BMI: 21.4±4.3 kg m(-2)). Patients were randomly assigned at atenolol treatment (n=26), or enalapril treatment (n=25). The mean follow-up duration was 11±2 months. Both drugs were able to significantly reduce 24-systolic BP (SBP; atenolol: 133±11 mm Hg vs 124±16 mm Hg, P=0.016; enalapril: 135±6 mm Hg vs 127±7 mm Hg, P=0.001). Only enalapril was able to significantly reduce LVMI (47±12 vs 39.6±10 g m(-)(2.7), P=0.016). Only in atenolol group in two cases (7.7%) drug withdrawal was needed because of adverse events. Enalapril and atenolol are similarly effective in reducing SBP. However, only enalapril demonstrated a significant reduction of LVMI. In no case, enalapril was stopped because of adverse events.

Paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: P wave duration and dispersion analysis.

OBJECTIVE: Myotonic dystrophy type 1 (MD1) is characterized by cardiac involvement, in about 80% of case, that predominantly affects the conduction system. Aim of our study was to evaluate the P-wave duration and dispersion (PD) in MD1 patients underwent pacemaker implantation with conserved systolic and diastolic function. PATIENTS AND METHODS: We enrolled 60 MD1 patients (age 51.3 ± 5 years; 11 females) underwent dual chamber pacemaker implantation for various grade of atrioventricular (AV) block. Sixty sex-and age matched non-MD1 subjects were recruited as controls. P-wave duration and dispersion were carefully measured using 12-lead electrocardiogram. RESULTS: Compared with healthy control group, MD1 patients presented increased maximum P wave duration (106.4 ± 20.9 vs 65.9 ± 8.2 ms, p = 0.03) and PD values (40.1 ± 11 vs 27.1 ± 4.2 ms, p = 0.003). No statistically significant difference was found in minimum P wave duration (69.7 ± 11.8 vs 65.4 ± 8.1 ms, p = 0.4). The MD1 patients with paroxysmal atrial fibrillation, compared with MD1 patients without evidence of atrial fibrillation, presented increased maximum P wave duration (108.1 ± 10.4 vs 78.1 ± 7.9 ms, p = 0.001) and PD values (41.1 ± 8.5 vs 33.2 ± 4.2 ms, p = 0.003). Minimum P wave duration (68.4 ± 8.2 vs 67.1 ± 4.9 ms, p = 0.5) didn't differ between the two groups. CONCLUSIONS: Our data showed a significantly increased P wave duration and dispersion in MD1 patients compared with age and sex-matched healthy controls. We showed a statistically significant increase in PD and P max in MD1 patients subgroup with AF compared to MD1 patients with no arrhythmias.

Left ventricular remodeling and mechanics after successful repair of aortic coarctation.

Forty normotensive patients (mean age 12.3 +/- 6.5 years) followed up after a successful repair of aortic coarctation (mean age at coarctectomy 5.1 +/- 4.8 yrs) were studied by echo-Doppler to (1) evaluate left ventricular (LV) remodeling and endocardial and midwall mechanics, and (2) identify factors that might predispose to persistent abnormalities. Sex- and age-specific cutoff levels for LV mass/height2.7 and relative wall thickness were defined to assess LV geometry. To adjust for age-and growth-related changes in ventricular mechanics, all echocardiographic variables were expressed as a Z-score relative to the normal distribution. In addition, the smallest diameter of the aorta was assessed by magnetic resonance imaging and calculated as percent narrowing compared with the diameter of the aorta at the diaphragmatic level. In the study group, 24 of 40 patients (60%) had normal LV geometry. Among the 16 patients (40%) with abnormal LV geometry, 5 (12.5%) had a pattern of concentric remodeling and 11 (27.5%) an eccentric hypertrophy. LV hypertrophy was marked (LV mass index >51 g/m2.7) in 5 of these patients. No patient had a pattern of concentric hypertrophy. LV contractility was increased (Z-score >95th percentile) in 28 patients (70%) as assessed using the endocardial stress-velocity index. In contrast, LV contractility assessed using midwall stress-velocity index remained elevated (Z-score >95th percentile) in 15 patients (37.5%). The stepwise multiple logistic regression analysis was not able to detect any significant independent predictor of abnormal LV remodeling, including sex, age at surgical repair, length of postoperative follow-up, heart rate, body mass index, systolic and diastolic blood pressure, and smallest diameter of the aorta, as well as indexes of LV geometry (shape, mass, volume, mass/ volume ratio) and function (preload, afterload, pump function, and myocardial contractility). Thus, normotensive patients after surgical repair of aortic coarctation may be in an LV hyperdynamic cardiovascular state (more frequent in those who have undergone late repair) and have multiple patterns of LV geometry.

Echocardiographic evaluation of left ventricular systolic function in the Down syndrome.

Left ventricular systolic function was evaluated by echo-Doppler in 22 Down syndrome patients without congenital heart disease. Although they had evident left ventricular hyperkinesia, this did not appear to reflect intrinsic abnormalities of myocardial properties but a reduced afterload.

Repeat syncopal attacks due to postsurgical right ventricular pseudoaneurysm.

Pseudoaneurysm of the right ventricular outflow tract is a rare lesion caused by disruption of the ventricular wall that allows the blood to leak into the surrounding space. It often complicates surgery involving right ventriculotomy and progressively increases in size, therefore causing airway compression, pulmonary perfusion asymmetry, thromboembolism, and rupture. We report on a patient who developed right ventricular pseudoaneurysm early after surgery for atrio-ventricular septal defect with tetralogy of Fallot and needed emergency surgical repair due to low cardiac output and repeat syncopal attacks.

Left ventricular midwall mechanics in healthy children and adolescents.

The assessment of left ventricular function in pediatric age generally has been made by measuring the extent and velocity of fiber shortening at the endocardium and relating these parameters to systolic wall stress. It has been suggested from animal and human studies that this "endocardial method" can result in an overestimation of myocardial function when healthy hearts and those with hypertrophy are compared. Thus an assessment of left ventricular pump function and contractility that takes into account the epicardial migration of the midwall circumferential fibers during systole (midwall analysis) is warranted. Although the normal range for midwall indexes of left ventricular mechanics has been established in adult subjects, up to now it has not been studied in pediatric subjects. To establish normal values for left ventricular midwall mechanics, 70 healthy children ranging in age from 3 days to 18 years were evaluated with 2-dimensional and M-mode echocardiography. Midwall fractional shortening (FSmw), rate-corrected mean velocity of circumferential fiber shortening (VCFcmw), and the relation between these indexes and left ventricular end-systolic wall stress (ESS) were calculated separately for the children younger than 2 (group 1, 20 subjects) and older than 2 (group 2, 50 subjects) years of age. Group 1 had significantly higher FSmw and VCFcmw compared with group 2. An inverse linear relation between FSmw and ESS and between VCFcmw and ESS was found in both age groups. The y-intercept was higher in group 1, and the slope of the mean regression line was steeper than in group 2 for both the relationships, suggesting an age-dependent midwall left ventricular pump function and contractility. These normative data can be used to assess the left ventricular midwall mechanics in pediatric patients with pressure or volume overload.

Right ventricular myocardial dysfunction in adult patients late after repair of tetralogy of fallot.

AIM OF THE STUDY: To detect in adult patients late after repair of Tetralogy of Fallot (TOF) possible correlation between myocardial parameters assessed at rest by Tissue Doppler (TD) and cardiac performance during physical effort. METHODS: Doppler echo, treadmill test and pulsed TD of both mitral and tricuspid annulus were performed in 25 healthy subjects and in 40 adult patients who had undergone surgery for TOF at a mean age of 1.4+/-0.5 years. Exclusion criteria were echocardiographic evidence of residual pulmonary, either stenosis or regurgitation. By use of TD, the following parameters were assessed: systolic peak velocities (Sm), pre-contraction time, contraction time, early (E(m)) and late (A(m)) diastolic velocities, E(m)/A(m) ratio, relaxation time. By treadmill test, we measured: maximal heart rate (HR), systolic blood pressure (SBP), rate-pressure product, maximal workload, time duration of the exercise. RESULTS: the two groups were comparable for left ventricular measurements and for all transmitral and transtricuspid Doppler indexes, while tricuspid ring diameter was increased in TOF. TD analysis showed in TOF lower S(m), E(m) and E(m)/A(m) ratio and prolonged PCT(m) and Rt(m) at tricuspid annulus level, despite comparable TD mitral annulus indexes. By treadmill test, TOF showed reduced time of exercise, number of METS reached and rate-pressure product. Multiple linear regression models evidenced in TOF independent positive association between tricuspid Em velocity and time of exercise (p<0.0001), achieved METS at peak effort (p<0.001) and rate-pressure product (p<0.001). An E(m) peak velocity of tricuspid annulus lower than 0.13 m/s showed 90% sensitivity and 93% specificity in identifying TOF patients unable to perform maximal exercise test. CONCLUSIONS: despite normal Doppler parameters, adult patients late after correction of TOF showed impaired right ventricular myocardial function. In these patients pulsed TD may be taken into account as a valuable supporting tool to predict the effort response and possibly to assess long-term follow-up of cardiac functional reserve.

Arrhythmogenic substrate in young patients with repaired tetralogy of Fallot: role of an abnormal ventricular repolarization.

Ventricular repolarization analysis has been shown to be effective in the identification of electrical myocardial instability leading to ventricular arrhythmias. The aim of the present study was to examine ventricular repolarization time indexes, in terms of both absolute measures and dispersion across the myocardium, in young patients with repaired tetralogy of Fallot (41 pts; 28M/13F, age 11.7+/-3.6 years), assessing, furthermore, the possible influence of known negative prognostic factors relative to the surgical operation and residual haemodynamic abnormalities. The data of the study group were compared with those of 33 aged-matched asymptomatic control subjects (22M/11F, age 11.7+/-2.3 years). Ventricular depolarisation, as expressed by QRS duration, resulted significantly longer in total Fallot group than in the Control group (P<0.0001). Particularly, patients operated through a right ventricular approach showed higher values of QRS interval (P<0.0001) than those operated through a combined transatrial-transpulmonary approach. All the patients operated on for tetralogy of Fallot exhibit, with respect to control subjects, an inhomogeneous prolongation of ventricular repolarization across the myocardium, as showed by the significant increase in the absolute indexes of ventricular repolarization, JTc (P<0.001), QT (P<0.0001) and QTc (P<0.0001) with a concomitant prolongation of the indexes of dispersion of ventricular recovery time, QTcD (P<0.0001), JTcD (P<0.0001), 'adjusted' QTcD (P<0.001) and Tp-Te interval (P<0.0001). A temporal and regional variation in the ventricular repolarization across the myocardium in patients with repaired tetralogy of Fallot, could create the pathophysiological substrate for an increased cardiac electrical instability. The presence of negative prognostic factors, relative to the surgical intervention or residual haemodynamic abnormalities, even if not influencing the arrhythmic substrate, invariably present, could determine 'trigger' conditions essential for the development of ventricular arrhythmias.

Hypertrophic cardiomyopathy in pediatric patients: effect of verapamil on regional and global left ventricular diastolic function.

OBJECTIVE: To assess the effects of treatment with verapamil on regional and global left ventricular (LV) diastolic function in paediatric patients with hypertrophic cardiomyopathy (HCM). DESIGN: Twelve patients (age range 5.1 to 12.3 years, median 8.6) with HCM were evaluated during ongoing chronic oral treatment with verapamil (4 mg/kg/day) and four days after withdrawal of therapy. Twelve age- and body surface area-matched normal children served as controls. In an echocardiographic study, global LV diastolic function was evaluated by assessing isovolumic relaxation time (IVRT) and mitral flow indexes, including peak filling rate normalized to mitral stroke volume (PFR/SV). In addition, regional LV diastolic function was assessed by pulsed-wave Doppler tissue imaging at the subendocardial portion of the middle region of the anterior and posterior interventricular septum, and anterolateral and inferior walls to measure the peak velocities and the velocity-time integrals of myocardial excursion in both early diastole and atrial systole. In addition, as an index of diastolic asynchrony (AsyI), the variation in time to peak filling rate, measured as the time from the peak of the R wave on the electrocardiogram to the peak of the regional E wave, among the four myocardial regions was defined by subtracting the smallest value from the greatest and expressing the difference as a percentage of the smallest value. RESULTS: Compared with the controls, patients with HCM without therapy showed a longer IVRT (P<0.01) and a decrease in PFR/SV (P<0.01) without a compensatory increase in filling during atrial systole. Oral administration of verapamil induced a significant shortening of the IVRT (P=0.003) and an increase in PFR/SV (P=0.02). Furthermore, patients with HCM without therapy showed a significantly longer time to peak filling rate (P<0.01) associated with a decreased peak velocity in early diastole without a concomitant increase in peak velocity during atrial systole in each of the myocardial regions. Furthermore, the AsyI was higher in the HCM group than in controls (19% versus 6%, respectively), and this index was inversely correlated with the PFR/SV (r=-0.86, P<0.001). The regional diastolic velocity of the myocardium at each of the four analyzed regions was not significantly different with verapamil, but the AsyI was significantly lower (P<0.05). CONCLUSIONS: Children with HCM show abnormalities of both global and regional LV diastolic function. In these patients, chronic administration of verapamil plays a crucial role in the improvement in global LV filling and, as a consequence, in clinical manifestations. The beneficial effects of verapamil seem to be related to a reduction in diastolic asynchrony more than to significant changes in diastolic velocities of the myocardial fibres.

Truncus arteriosus and double aortic arch associated with DiGeorge syndrome.

We report the 1st known case in which truncus arteriosus and double aortic arch have been associated with DiGeorge syndrome. The association of these 2 cardiovascular anomalies lends support, by itself, to speculation that truncus arteriosus and double aortic arch have a common embryonic pathogenesis; and the presence of these anomalies in a patient with DiGeorge syndrome strengthens the contention that the common causative factor is pathologic development of the neural crest cells.

New insights in the pathophysiology of mitral and aortic regurgitation in pediatric age: role of angiotensin-converting enzyme inhibitor therapy.

This review has been focused on the new insights in the pathophysiology of mitral and aortic regurgitation and on the role of ACE-inhibitor therapy in children with chronic volume overload due to left-sided valvular lesions. Recent clinical studies show that these drugs have favorable effects when administered orally in chronic mitral and aortic regurgitation. Interestingly, the beneficial effects of ACE-inhibition regard the basic anatomic, hemodynamic and adaptive pathologic conditions related to volume overload, namely, the regurgitant orifice area and volume and ventricular remodeling. The heart is a plastic structure, constantly being altered in size, shape and composition in response to chronic volume overload. Thus, modulation of cardiac plasticity by ACE-inhibition raises the possibility of using new therapeutic strategies specifically designed to prevent and/or antagonize the mechanical disadvantages secondary to volume overload-induced cardiac remodeling. The beneficial effects of ACE-inhibition have also been observed in growing children with asymptomatic valvular regurgitation; thus, it appears that the unloading therapy has the potential of influencing the natural history of both mitral and aortic regurgitation and possibly delays surgical valve repair or replacement. These data justify early inhibition of the renin-angiotensin system in children with left ventricular volume overload due to mitral and aortic regurgitation.

The effect of aortic coarctation surgical repair on QTc and JTc dispersion in severe aortic coarctation newborns: a short-term follow-up study.

Sudden death is a possible occurrence for newborns younger than 1 year with severe aortic coarctation (CoA) before surgical correction. In our previous study, we showed a significant increase of QTc-D and JTc-D in newborns with isolated severe aortic coarctation, electrocardiographic parameters that clinical and experimental studies have suggested could reflect the physiological variability of regional and ventricular repolarization and could provide a substrate for life-threatening ventricular arrhythmias. The aim of the current study was to evaluate the effect of surgical repair of CoA on QTc-d, JTc-d in severe aortic coarctation newborns with no associated congenital cardiac malformations. The study included 30 newborns (18M; 70+/-12 h old) affected by severe congenital aortic coarctation, without associated cardiac malformations. All newborns underwent to classic extended end-to-end repair. Echocardiographic and electrocardiographic measurements were performed in each patient 24 h before and 24 h after the interventional procedure and at the end of the follow-up period, 1 month after the surgical correction. All patients at baseline, 24 h and one month after CoA surgical repair did not significantly differ in terms of heart rate, weight, height, and echocardiographic parameters. There were no statistically significant differences in QTc-D (111.7+/-47.4 vs 111.9+/-63.8 ms vs 108.5+/-55.4 ms; P=0.4) and JTc-D (98.1+/-41.3 vs 111.4+/-47.5 vs 105.1+/-33.4 ms; P=0.3) before, 24 h and 1 month after CoA surgical correction. In conclusions, our study did not show a statistically significant decrease in QTc-D and JTc-D, suggesting the hypothesis that the acute left ventricular afterload reduction, related to successful CoA surgical correction, may not reduce the ventricular electrical instability in the short-term follow-up.

Masked hypertension in young patients after successful aortic coarctation repair: impact on left ventricular geometry and function.

Life expectancy is still reduced in aortic coarctation (AoC) patients despite a successful repair because of late arterial hypertension and atherosclerosis. Masked hypertension (MH) consists of an elevated daytime or awake ambulatory blood pressure (BP) in the presence of a normal BP on conventional measurement at the office. To assess the prevalence of MH among AoC normotensive young patients successfully treated and to evaluate the impact of MH on left ventricular (LV) geometry and function.We studied 76 AoC patients (mean age 14.5±5.7 years, male 64%). According to 24 h ambulatory BP monitoring (ABPM) our sample was divided in real normotensive patients (Group RN, n=40) and MH patients (Group MH, n=36). There was an increased pressure gradient in the aortic arch (15 mm Hg±4 vs 13 mm Hg±4.7, P<0.05), increased LV mass (51 g m(-2.7)±13 vs 46 g m(-2.7)±12, P<0.05), in MH AoC patients. Regional longitudinal deformation properties of the basal septal segment (-15%±2.4 vs -20%±5, P<0.01) and LV twist values (14°±1.6 vs 12°±1.9, P<0.0001) were reduced in the MH group. There is a high prevalence of MH in young patients with repaired AoC, which is associated with abnormal LV structure and function. Clinicians should consider 24 h ABPM measurements in apparently normotensive patients followed up for AoC repair.