Clinical aspects of 22q11.2 microdeletion syndrome / A 22q11.2-microdeletiós szindróma klinikai jellemzoi.

Összefoglaló. Bevezetés: A sokszínu tünetspektrummal jellemezheto DiGeorge-szindróma leggyakoribb oka a 22q11.2-microdeletio; incidenciája 1/4000-6000. Célkituzés: A DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval társult tüneteinek/panaszainak részletes feltérképezése, a betegség incidenciájának becslése és egy magyarországi 22q11.2-microdeletiós szindróma regiszter létrehozása. Módszer: 2005 és 2019 között a Semmelweis Egyetem II. Gyermekgyógyászati Klinikájára DiGeorge-szindróma gyanújával beutalt és a Veleszületett Rendellenességek Országos Nyilvántartása által regisztrált DiGeorge-szindrómás betegek adatait dolgoztuk fel. A fenotípusjegyeket a Humán Fenotípus Ontológia kódrendszer alapján határoztuk meg. Eredmények: A vizsgálatba 114, igazolt DiGeorge-szindrómás és 113, FISH-vizsgálattal microdeletiót nem hordozó, de klinikailag a DiGeorge-szindróma tüneteit mutató beteget vontunk be. A diagnózis felállításakor a betegek átlagéletkora 5,88 (± 9,66 SD) év volt, eddig a betegek 54,9%-a legalább egy szívmutéten átesett. A betegek leggyakoribb tünetei a kamrai sövényhiány, a mélyen ülo fülek, a gótikus szájpad, a motoros fejlodési elmaradás és a visszatéro fertozések voltak. Megbeszélés: A DiGeorge-szindróma becsült incidenciája hazánkban 1/12 500, közöttük magas a többszörösen veszélyeztetett újszülöttek és a mutéti korrekcióra szorulók aránya. A diagnózis hazánkban 2-3 évvel korábban történik a nemzetközi átlaghoz viszonyítva. Következtetés: A létrehozott regiszterünk alapján Magyarországon a kórkép aluldiagnosztizált. Minden conotruncalis szívfejlodési rendellenesség vagy jelentos kamrai sövényhiány esetén citogenetikai vizsgálat javasolt a DiGeorge-szindróma felmerülo gyanúja miatt. Negatív lelet esetén az atípusos töréspontú microdeletiók azonosítására komparatív genomiális hibridizáció vagy multiplex ligatiofüggo próbaamplifikációs vizsgálat javasolt. A betegek számára multidiszciplináris ellátás szükséges, III-as progresszivitási szintu újszülött intenzív részlegen, gyermekkardiológus és klinikai genetikus részvételével. Orv Hetil. 2022; 163(1): 21-30. INTRODUCTION: The 22q11.2 microdeletion syndrome is the most common cause of DiGeorge syndrome, showing a wide phenotypic spectrum and has an estimated incidence of 1/4000-6000 livebirths. OBJECTIVE: Detailed characterization of the clinical signs/symptoms associated with 22q11.2 deletion, estimation of the national incidence via establishing a Hungarian register. METHOD: Retrospective data between 2005 and 2019 from the 2nd Department of Paediatrics, Semmelweis University and from national database of congenital anomalies were obtained. Phenotypic abnormalities were described using the Human Phenotype Ontology nomenclature. RESULTS: A cohort of 114 DiGeorge patients and 113 patients negative for FISH testing were included. The mean age of patients at diagnosis was 5.88 (± 9.66 SD) years and 54.9% of patients had at least one heart surgery until diagnosis. The main identified symptoms were ventricular septal defect, low-set ears, recurrent infections, high narrow palate and motor development delay. DISCUSSION: The estimated incidence of DiGeorge syndrome in Hungary is 1/12 500 births, the frequency of infants at high risk and in need for surgery is high. Diagnosis is established 2-3 years earlier as compared to the international average. CONCLUSION: Based on the established Hungarian register, the incidence is lower compared to international data. In the case of conotruncal heart anomaly and ventricular septal defects, cytogenetic testing is recommended for the increased probability of DiGeorge syndrome. For second-tier testing, comparative genome hybridization or multiplex ligation-dependent probe amplification are recommended to identify atypical microdeletions. Newborns with DiGeorge syndrome require special care in perinatal intensive centers including pediatric cardiology and genetic counseling. Orv Hetil. 2022; 163(1): 21-30.

[Multivalve redo surgery in adult patient with complex pulmonary artesia]. / Több-billentyus redomutét felnott betegen komplex pulmonalis atresiában.

30-year-old adult with complex pulmonary atresia (previous surgical procedures: in infancy: exploration, at age of 10: ventricular septal defect closing, unifocalization, homograft implantation between right ventricular outflow tract and pulmonary artery) has biventricular dysfunction because of aortic valve regurgitation, ascending aortic aneurysm, and homograft insufficienty. Multivalve surgery: aortic valve plasty, pulmonary homograft changes for homograft and ascending aortic reconstruction by graft were carried out successfully. In Hungary this was the first case of this type of surgery. Management of special problems (follow-up, correct diagnostics (echocardiography, MR, CT), indication and necessity of reoperation, optimal age) in adult patients with complex congenital heart defects produces excellent early and late surgical results. Orv. Hetil., 2017, 158(14), 546-549.

[Successful surgical management of aortico-left ventricular tunnel using modern noninvasive diagnostic imaging methods]. / Aorta-bal kamra tunnel sikeres sebészi kezelése modern noninvazív képalkotó diagnosztika alapján.

Aortico-left ventricular tunnel is a rare congenital cardiac defect, which bypasses the aortic valve via the paravalvar connection from the aorta to the left ventricle. The authors present the case of a 14-year-old boy with aortico-left ventricular tunnel in whom the aortic orifice arose from the right aortic sinus and was closed by a pericardial patch. The diagnosis was confirmed by combined two-dimensional and real time three-dimensional echocardiogram and magnetic resonance imaging. This is the first case, in which these complex diagnostic imaging methods have been used in the pre- and postoperative management of this defect. Optimally the new transthoratic three-dimensional echocardiography would be needed to define the anatomy and functional consequences of the aortico-left ventricular tunnel and in the postoperative follow-up.

Impaired baroreflex function is related to reduced carotid artery elasticity in patients with tetralogy of Fallot.

Sudden cardiac death (SCD) is a common late complication in patients with tetralogy of Fallot (ToF). Reduced baroreflex sensitivity (BRS) is an independent predictor of SCD and BRS reduction was reported in ToF. Relationship between BRS and carotid artery distensibility (DC) in healthy subjects was reported by us earlier. We also found that DC was reduced in ToF patients. In the present study we tested the hypothesis that reduced BRS is related to increased carotid artery stiffness. We studied 36 ToF patients (21±11 years) and 60 age-matched healthy control subjects. Intravenous phenylephrine-induced (BRSphe) and spontaneous (BRSseq) BRS indices were derived. DC calculation was based on echo wall-tracking and tonometry. BRS indices were reduced in patients compared with controls (BRSphe 16.8±10.2 vs. 27.3±9.2ms/mmHg; BRSseq 9.3±9.2 vs. 18.3±7.8ms/mmHg). DC was also lower in patients (5.1±1.8 vs. 6.3±2.610(-3)/mmHg). BRS correlated with DC across patients and controls (BRSphe r=0.75 vs. r=0.74; BRSseq r=0.44 vs. r=0.38). Multiple regression analysis indicated that BRS indices are determined independently by DC in ToF patients. We showed that reduced DC may contribute to impaired baroreflex function in ToF patients and could in part explain the elevated risk for SCD postoperatively. Therefore it would be an important future investigation to test carotid artery stiffness and analyze its predictive value for cardiac mortality in ToF. Preventive actions to impede carotid artery stiffening should receive more attention in the clinical management of ToF patients.

[Correlations between B-type natriuretic peptide levels and non-geometric echocardiographic parameters in pediatric cardiomyopathies]. / B-típusú natriureticus peptid és a nem geometriai echokardiográfiás paraméterek összefüggése gyermekkori szívizombetegségekben.

INTRODUCTION: B-type natriuretic peptide is a conventional cardiac biomarker in adult cardiology, however, it is not commonly used in pediatric cases. AIMS: After introducing B-type natriuretic peptide measurements in pediatric patients for the evaluation of systemic right ventricular function, the authors wanted to evaluate the value of plasma B-type natriuretic peptide and compare the results with systolic and diastolic myocardial parameters obtained with conventional echocardiography and tissue Doppler imaging in children with cardiomyopathy. METHODS: Between 2007 and 2010, 58 plasma B-type natriuretic peptide measurements were performed in 32 children (dilated cardiomyopathy in 20, hypertrophic cardiomyopathy in 10 and non-compacted cardiomyopathy in 2 cases). The age of the patients was 7.9±6.6 years (mean±SD). Plasma B-type natriuretic peptide was measured using an electrochemiluminescent assay within one day from echocardiographic evaluation. RESULTS: As compared to normal values, children with the 3 types of cardiomyopathies showed significant differences in plasma B-type natriutretic peptide levels (dilated cardiomyopathy vs normal, p<0.001; hypertrophic cardiomyopathy vs. normal, p<0.01; non-compacted cardiomyopathy vs. normal, p<0.001). There was a significant negative correlation (r = -0,63; p<0,01) between B-type natriuretic peptide levels (range, 12-7002 ng/L; mean±SD, 1531±1750 ng/L) and linEF values (range, 4-50%; mean±SD, 22.5±13%). For B-type natriuteric peptide, a cut-off point of 1000 ng/L proved to differentiate significantly decreased linEF values (<17%). B-type natriuretic peptide levels significantly correlated with left ventricular end-diastolic diameter (r = 0.899; p<0.001), with left ventricular anular S wave parameters (r = 0.689; p<0.001) and with E/e ratio (r = 0.43; p<0.05). CONCLUSIONS: B-type natriuretic peptide measurements are recommended in all types of cardiomyopathies.

[Role of the Ross-procedure in the management of congenital heart defects]. / A Ross-mutét helye a veleszületett szívhibák sebészi kezelésében.

INTRODUCTION: The surgical strategy to manage multilevel left ventricular outflow tract diseases is changing constantly, however, the Ross-procedure has remained a standard method for 45 years. AIM: The aim of the study was to analyze early and mid-term results of Ross-procedure in congenital heart defects (single surgeon's results). METHODS: From 2001 until 2011 a total of 63 patients (age, 28 days-21 years; mean: 10 years, weight 3.4-96 kg; mean, 8.8 kg) underwent Ross (n = 40), Ross-Konno (n = 17) or Ross-Konno-mitral (n = 6) procedures. Indication for Ross procedure was aortic regurgitation in 15 patients (associated with ventricular septum defect in 8 patients) and a predominant aortic stenosis in 25 patients. 17 patients with severe left ventricular outflow tract obstruction underwent Ross-Konno procedure. 6 patients with concomitant mitral valve disease (Shone syndrome, 3 patients; complete atrioventricular septal defect, 3 patients) were reconstructed by Ross-Konno-mitral valve procedure. RESULTS: Among Ross patients there were one early (cerebral complication) and one late death (homograft endocarditis) with a mean follow-up time of 7.4±1.8 years. Because of an early autograft endocarditis a 3-year-old boy underwent homograft implantation and was treated successfully with Bentall-procedure 9 years later. One patient with autograft regurgitation is waiting for reoperation. Among Ross-Konno patients there was no early or late death, and none of the patients underwent reoperation. In Ross-Konno-mitral patients there was one early death (28-day-old boy) and during a mean follow-up time of 2.5±1 years, and no reintervention or reoperation was needed in 5 patients. CONCLUSIONS: The results indicate a good outcome of Ross-, Ross-Konno-, Ross-Konno-mitral procedures in patients with congenital heart defects when surgery is performed by a highly experienced heart surgeon. In newborns, infants and small children Ross- and Ross-Konno procedures are the only methods for managing left ventricular outflow tract diseases. Concomitant severe mitral disease adds a high level of technical complexity to the Ross-Konno/mitral procedure, but it should be balanced against alternative strategies (eg. single ventricle palliation or transplantation).

[Right ventricular outflow tract reconstruction in adolescents and adults after previous repair of congenital heart defects]. / A jobbkamra-kifolyási pálya rekonstrukciója elozoleg korrigált veleszületett szívhibák esetén fiatal- és felnottkorban.

UNLABELLED: Due to successful surgical treatment of congenital heart defects in infants and children, the number of patients who reach the adolescent/adult age is continuously increasing. AIMS: The authors sought to identify the short- and medium-term outcomes of reconstruction of right ventricular outflow tract in adolescents and adults who underwent surgical intervention for congenital heart defect in infancy or early childhood. METHODS: Between 2001 and 2012, 48 patients (age: 15-39, mean 21 years) (30 tetralogy of Fallot, 11 pulmonary atresia + ventricular septal defect, 6 transposition of great arteries + ventricular septal defect + left ventricular outflow tract obstruction, and 1 truncus arteriosus) had repeat operation because of right ventricular dysfunction. All patients previously underwent right ventricular outflow tract procedures in early childhood. RESULTS: In 31 patients, the small homograft, and in 9 patients the transannular-paths were replaced for "adult-size" homograft. Bioprosthetic pulmonary valve replacement was performed in pulmonary (6 patients) and homograft annuli (2 patients). In 14 patients, resection of the right ventricular outflow tract aneurism was also necessary to be performed. There was no early and mid-time (10 years) mortality. In 97.5% of patients with homograft-re-implantation, there was no need for repeat intervention for 5 years. CONCLUSIONS: The right ventricular outflow tract restoration in adolescents and adults is an effective procedure. The reconstruction should be performed in early adolescent period to prevent right ventricular dysfunction. The authors prefer using bioprosthetic pulmonary valve replacement in patients with adult-size pulmonary or homograft annulus.

Impaired carotid artery elastic function in patients with tetralogy of Fallot.

Complex congenital heart diseases with abnormal formation of the aorticopulmonary septum are also associated with defective large artery elastogenesis. In the current study, we tested the hypothesis that carotid artery elastic function was impaired in patients with tetralogy of Fallot (ToF). The study included 45 Fallot-patients (male:female 27:18; age 21.0 ± 11.8 years) and 45 age- and gender-matched healthy control individuals. Carotid artery diameter, pulsatile distension, and intima-media thickness (IMT) were measured by echotracking device, and carotid blood pressure was determined using applanation tonometry. Carotid artery elasticity was characterized by compliance and distensibility coefficients, stiffness index ß, and incremental elastic modulus. All carotid artery elastic parameters showed significant differences between groups. The compliance coefficient was 36%, and the distensibility coefficient was 33% smaller, whereas stiffness index ß was 46% and incremental elastic modulus was 40% larger in Fallot-patients. Fallot-patients also had larger carotid artery IMT as compared to that of healthy individuals. Carotid artery is markedly stiffer in Fallot-patients suggesting that impaired elastogenesis is a component of the congenital abnormality. Increased large artery stiffness might contribute directly and indirectly (through impairment of baroreflex function) to the higher mortality found in ToF patients.

[Redo procedures for correction of aortic valve diseases in infants and children. The Bentall-Konno procedure]. / Csecsemô- és gyermekkori REDO mûtéteket igénylô aortabillentyû-betegség. Az elsô magyarországi Bentall-Konno-mûtét gyermekkorban.

On an infant with critical valvular aortic stenosis balloon-valvoplasty, and 3 years later because of the aortic valve regurgitation Ross operation was performed. In the early postoperative period an aortic-root abscess occurred due to an infective endocarditis; the aortic root was corrected by homograft implantation. Due to a relatively small, calcified aortic valve, with aortic valve regurgitation grade III at the age of 12 years, a Bentall-Konno procedure was performed successfully. This is the first case when this complex surgical procedure was performed successfully on a child in Hungary.

[Management of Fabry disease]. / Fabry-betegség - terápiás útmutató

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.

[Noncompacted cardiomyopathy in infants and children. Clinical findings and diagnostic techniques]. / Csecsemo- és gyermekkori noncompacted (embrionális) cardiomyopathia. Klinikai sajátosságok és diagnosztikai lehetoségek.

UNLABELLED: Noncompaction of the ventricular myocardium (NcCM) represents an arrest in the normal process of myocardial compaction, and has only recently been recognized as a distinct form of cardiomyopathy. It was previously termed as "spongy myocardium" and it is an extremely rare form of CM especially in infants and children. The last 20 years 23 cases aged 3 days-17 years mean: 60,3 months were diagnosed with NcCM (previously "spongy CM") based on echo-morphological criteria in our Institute. Our purpose was to assess the diagnostic value of Echo/ and MRI using conventional Echo and TDI parameters. FOLLOW-UP: 0.5-17 years, mean 6.3 years. We introduced in our country the MRI, also in the pediatric population with NcCM. RESULT: Echo/MRI diagnosis was in good agreement in the diagnosis of pediatric NcCM. TEI index correlated well with MRI EF (r: 0.96, p<0.01). The prognosis of NcCM in infants was very poor, with a 43% half year mortality, with one successful heart transplantation. All children were stable hemodynamic condition for a longer period. We think our result will contribute to the early diagnosis, adequate treatment of NcCM with improvement of the prognosis, and to the better knowledge of prevalence and family screening of this very severe disease.

[Fabry disease--diagnostic guideline]. / Fabry-betegség. Diagnosztikai útmutató.

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group.

[Tissue Doppler imaging in the assessment of right ventricular function in congenital heart disease. Correlation with echo-MRI]. / Szöveti Doppler-echokardiográfia a jobbkamra-funkció megítélésére veleszületett szívhibákban. Echo-szív mágneses rezonanciás összehasonlító vizsgálatok.

UNLABELLED: The noninvasive evaluation of right ventricular function is difficult, especially in postoperative complex congenital heart disease due to the special right ventricular geometry. The right ventricular dysfunction is a key factor in morbidity and mortality and in the determination of the necessity of reoperation. PURPOSE: To report the author's experiences of 133 TDI investigations. Pts age: 14 days-20 yrs, mean 12,4 yrs. To assess right ventricular function TDI investigations were performed for "systemic right ventricular" function in transposition of great arteries after Senning operation (Group I.21 TDI in 17 pts) and after reconstruction of Tetralogy of Fallot (Group II, 21 pts). METHODS: RV tricuspid anulus systolic velocity (Sy) and early diastolic velocity (E') were measured from Doppler inflow the E wave peak velocity, and the E/E' ratio was calculated. The deviation of these TDI velocities from normal values were analyzed and the correlation with RV ejection fraction was measured by MRI. RESULTS: In Group I we found significant differences from normal population Sy 9.3 +/- 3.7 cm/s vs. 14.2 +/- 2.3, E' 12.8 +/- 4.7 cm/s vs. 16.7 +/- 2.8 cm/s, E/E' 7.2 +/- 4.6 vs. 3.7 +/- 1.4. Sy TDI velocity and E/E' ratio showed good correlation with RV EF measured by MRI ( p > 0.001). In Group II Sy velocity was decreased: 11.3 +/- 4.3 cm/s and showed also good correlation with MRI EF ( p > 0.001). CONCLUSION: TDI for RV function analysis is recommended in congenital heart disease and also proposed in addition to other methods. Due to experience with MRI, reliable data can be collected for the postoperative pts, to decide the correct time of redo operation.

[Surgical management of anomalous origin of the left coronary artery from the main pulmonary artery with Takeuchi procedure]. / Takeuchi mutét, egy ritka szívmutét elso sikeres hazai alkalmazása.

Anomalous origin of the left coronary artery from the main pulmonary artery is a rare form of congenital heart disease. It carries a very poor prognosis with a mortality rate of more than 85% in the first year of life due to severe left ventricular failure. Surgical repair results in progressive improvement of left ventricular function even in patients with a severely damaged myocardium. The current surgical management is to reimplant the anomalous origin of the left coronary artery from the pulmonary artery to the aorta. Historically, ligation of the anomalous origin and a subclavian artery-left coronary artery bypass were carried out. A 20-month-old boy underwent a Takeuchi procedure (a fenestration between the aorta and the main pulmonary artery, an intrapulmonary tunnel between the orifice of anomalous left coronary artery and fenestration, and a pulmonary artery reconstruction), because the reimplantation of the anomalous coronary artery was technically impossible. The success of this procedure was proven by good early result.

[Utility of B-type natriuretic peptide in children]. / B-natriuretikus peptid meghatározás jelentosége gyermekkori szívbetegségekben.

UNLABELLED: Serum brain natriuretic peptide (BNP) has been reported to indicate ventricular dysfunction, however, in children it has not been studied yet in our country. PURPOSE: 157 BNP tests were performed in 107 children, on the one hand, to evaluate its clinical value, to assess LV or systemic RV function in patients with transposition of great arteries after Senning operation, on the other hand, to prove the relation between BNP, MRI and echocardiographic ventricular function parameters. PATIENTS' AGE: 4 months-20 years, mean 12.5 yrs. Group I: Senning patients, Groups II and III: patients with dilated or hypertrophic cardiomyopathy, Group IV: patients with aortic insufficiency. METHODS: BNP was determined using the electrochemiluminesce method (Elycsys-10 Roche). During the functional MRI Mass- Medis software RV LV EF, end-diastolic, end-systolic volumes were calculated. Echo M-mode, TEI index were calculated. RESULTS: BNPs were significantly as higher compared to normal in each group of patients. Group I: 318 +/- 285 pg/ml, p < 0.01, Group II: 7262 +/- 10970 pg/ml, p < 0.01, Group III: 1558 +/- 2765 pg/ml, p < 0.01, Group IV: 1076 +/- 2791 pg/ml, p < 0.00l, vs 58 +/- 31 pg/ml. BNP were negatively correlated with MRI RV EF (r: -0.51, p < 0.05) and showed good correlation with TEI index (0.43 +/- 0.18, p < 0.05). After 3 weeks of medical or surgical treatment BNP decreased significantly. 4 patients died during the follow-up period, these had the highest BNP levels in each patients group. CONCLUSIONS: BNP is a useful, prognostically valuable method in children to monitor ventricular function. BNP levels reflect the severity of the impairment of systemic RV function in Senning patients in whom a complex RV geometry is present causing the assessment of RV function more difficult, so we recommend BNP measurements as a longitudinal test in this patient group.

Adaptation of baroreflex function to increased carotid artery stiffening in patients with transposition of great arteries.

We have shown previously that TGA (transposition of great arteries) is associated with increased carotid artery stiffness. It has been established that stiffening of the barosensory vessel wall results in reduced baroreceptor activation and impaired BRS (baroreflex sensitivity). In the present study we tested the hypothesis that the increased carotid artery stiffness in TGA patients was associated with reduced cardiovagal BRS. We studied 32 TGA patients aged 9-19 years, 12+/-3 years after surgical repair and 32 age-matched healthy control subjects. Carotid artery diastolic diameter and pulsatile distension was determined by echo wall tracking; carotid blood pressure was measured by tonometry. BRS was measured using spontaneous techniques [BRS(seq) and LF(gain) (low-frequency transfer function gain)] and by the phenylephrine method (BRS(phe)). Carotid artery distensibility was markedly reduced in patients as compared with controls (5.6+/-1.9 x 10(-3) compared with 8.7+/-2.7 x 10(-3)/mmHg P<0.05, as determined using an unpaired Student's t test), but BRS was not different in patients and controls (20.3+/-14.7 compared with 21.7+/-12.7 for BRS(seq); 13.1+/-9.2 compared with 10.6+/-4.5 for LF(gain); and 19.1+/-8.6 compared with 24.8+/-7.2 for BRS(phe) respectively). Carotid artery elastic function was markedly impaired in patients with TGA, but the increased stiffness of the barosensory vessel wall was not associated with reduced BRS. It appears that attenuation of baroreceptor stimulus due to arterial stiffening may be compensated by other, possibly neural, mechanisms when it exists as a congenital abnormality.

Transposition of great arteries is associated with increased carotid artery stiffness.

Transposition of great arteries is the consequence of abnormal aorticopulmonary septation. Animal embryonic data indicate that septation and elastogenesis are related events, but human and clinical data are not available. We tested the hypothesis that large artery elastic function was impaired in patients with transposition of great arteries. We studied 34 patients aged 9 to 19 years, 12+/-3 years after atrial switch operation; 14 patients aged 7 to 9 years, 8+/-1 years after arterial switch operation; and 108 healthy control subjects matched for age. Carotid artery diastolic diameter and pulsatile distension were determined by echo wall-tracking; carotid blood pressure was measured by tonometry. Systolic pressure was higher and diastolic pressure was lower in patients than in controls. Patients with atrial and arterial switch repair were compared with their respective controls by 2-factor ANOVA. For patients with atrial switch repair versus control, stiffness index beta was 4.9+/-1.5 versus 3.1+/-1.0 (P<0.001); for patients witch arterial switch versus control, stiffness index beta was 3.8+/-1.1 versus 2.1+/-0.6 (P<0.001). Similar differences were observed for carotid compliance, distensibility, and incremental elastic modulus as well. The interaction term was not significant for any of the elastic variables, indicating that carotid stiffening was a characteristic of the condition and not the consequence of different hemodynamics. Carotid artery is markedly stiffer in patients, suggesting that impaired elastogenesis may constitute part of the congenital abnormality. Since carotid artery stiffness has been established as an independent cardiovascular risk factor, this condition may have consequences in the clinical management of these patients.

[Quantification of right and left ventricular function with magnetic resonance imaging after Senning operation for complete transposition of the great arteries]. / Mágneses rezonancia vizsgálat a jobb es bal kamra funkciójának megítélésére nagyér-transzpozíciós gyermekek Senning-mutétje után.

INTRODUCTION: The different non-invasive examinations do not result in unambigous results about the long-term determination of right ventricular function providing systemic circulation in children with transposition of the great arteries operated with Senning procedure. AIM: The goal of study was to determine the application of MRI for the observation of right and left ventricular morphology and function, for the recognition of the progression of the disease, and for the necessity of reoperation. METHODS: The authors have observed the morphology and function of the right and left ventricule by ECG triggered short axis MR pictures. For the analysis of MR pictures MASS 5.0 software was used. Authors have determined the end systolic and end diastolic volume, the ejection fraction, the mass, and the stroke volume of the right ventricule, the end systolic and end diastolic volume, ejection fraction, the mass, and the stroke volume of the left ventricle, and the shunt volume. The values of these data corrected to body mass have been calculated. PATIENTS: 176 Senning operations took place between 1980 and 1996. MRI exploration at 21 of the 118 analyzed patients were carried out. RESULTS: The right ventricular ejection fraction value at Senning operated patients is significantly different (49 +/- 9% vs. 70 +/- 4%) from those of healthy children (P < 0.01). Right ventricular stroke volume/m2 and right ventricular end systolic volume/m2 were significantly different compared to normal (43 +/- 10 ml/m2 vs. 48 +/- 7 ml/mn and 46 +/- 16 ml/m2 vs. 21 +/- 5 ml/m2, p < 0.05). Authors found also significant differences in left ventricular ejection fraction in Senning patients as compared to normal (60 +/- 9% vs. 70 +/- 6%, p < 0.01). CONCLUSION: MRI, which is a reliable method of objective determination of right ventricular function, became an available method in Hungary. According to the results, authors might presume that the development of right ventricular dysfunction is expected even among Senning operated children without clinical symptoms, so more frequent control is required. The pathological left ventricular parameters may be explained by ventricular interactions. Authors find MRI an important part of the complex follow-up protocol of Senning operations. MRI data extended by results of other non-invasive explorations are appropriate for the follow-up of right ventricular dysfunction.

[Is the right ventricle able to maintain the systemic circulation for a long time? The late results of the Senning operation for complete transposition of the great arteries]. / Képes-e a jobb kamra hosszú távon biztosítani a szisztémáis keringést? Nagyér-transzpozíciós betegeken végzett Senning-mutétek késoi eredményei.

UNLABELLED: The successful surgical management of congenital heart defects increased the number of such a type of defects, in which the morphological right ventricle has to provide the systemic circulation. Children with transposition of the great arteries operated with Senning procedure are good examples to investigate the long-term right ventricular function. Aim of our study was to determine the adequate non-invasive methods to assess the progression of the right ventricular dysfunction, to analyse the long-term surgical results and to determine the indication of reoperation. METHODS: Physical examination, electrocardiogram, 24 hours ECG, stress-testing, echocardiography, B-natriuretic peptide level measurement and magnetic resonance imagine were performed. PATIENTS: 176 Senning operations were carried out between 1980 and 1997. The follow-up period was 9-25 (mean 12.5) years and 83 children were included in our study. RESULTS: Significant correlations were found between the MRI RVEF, and echocardiographic TEI index, TDI and BNP results. Abnormal values were found in Senning patients compared to healthy children in MRI RVEF 55%, echocardiographic TEI index 0.33, in RV TDI systolic velocities 0.2 m/s, and B-natriuretic peptide levels 150 pg/ml. That means that right ventricular disfunction is expected in Senning children even without clinical symptoms. CONCLUSIONS: (1) BNP and echocardiographic TEI and TDI became available methods for the follow-up of right ventricular disfunction, and annual MRI is recommended. (2) Conversion of Senning to anatomic repair is considerable in selected young patients because the capacity of myocardium to respond to pressure overload decreasing with age. In older children and adults very close follow-up is necessary using biomarkers, echocardiography and MRI to decide the correct time of heart transplantation.

[22q11 deletion in conotruncal anomalies]. / Conotruncalis szívfejlodési rendellenességekben igazolt 22q11 microdeletio.

22q11 deletions in conotruncal anomalies. Two children are reported in whom conotruncal anomalies (truncus arteriosus communis, tetralogy of Fallot) were associated with chromosome 22q11 deletion. In both cases, which represent the first published cases in Hungary according to the knowledge of the author, deletions were suspected on the basis of phenotype termed Di George syndrome. Nowadays the role of molecular genetics is growing in the etiology of congenital heart defects and the chromosome 22q11 deletions constitute one of the most frequent genetic mutations associated with congenital heart defects. The author emphasizes that clinicians must know about this disease, and in case of suspicion they should request for molecular genetic investigation. 22q11 deletions have an important roles in the prognosis of congenital heart disease, in counseling and in the prenatal diagnosis as well.