Primary cardiac tumours: how well can prenatal diagnosis "predict" postnatal outcome?

OBJECTIVE: Primary foetal cardiac tumours are rare congenital malformations. They can cause a flow obstruction, arrhythmias and can lead to cardiac failure, hydrops or death. Postnatal management is based on patient´s clinical and hemodynamic impairment. METHODS: We retrospectively reviewed data from 2009-2019 from our gynaecology clinic and also data regarding postnatal follow-up from our partner paediatric institution. RESULTS: In this period, we diagnosed six cases with foetal cardiac tumours. In four cases, multiple rhabdomyomas were present. Three patients did not have serious complications pre- or postnatally. In one case, tumours were obliterating both the inflow and the outflow of the left ventricle. The child died at three months of age. Tuberous sclerosis was confirmed in all the cases with rhabdomyomas. One child had a fibroma filling the left ventricle. Despite an uneventful prenatal period, the patient got postnatally symptomatic. Tumour was considered inoperable and the child died at the age of five months. In one case a single right ventricular unspecified tumour was diagnosed, without any complications. CONCLUSION: Prognosis closely depends on early diagnosis, clinical manifestations and the possibility of surgical tumour removal if necessary. In confirmed rhabdomyomas, tests for tuberous sclerosis are mandatory (Tab. 1, Fig. 2, Ref. 18). Text in PDF www.elis.sk Keywords: rhabdomyoma, fibroma, prenatal diagnosis, ultrasound, tuberous sclerosis.

Eisenmenger syndrome - an electrocardiographic and echocardiographic assessment of the right ventricle.

BACKGROUND: Eisenmenger syndrome represents severe, irreversible, and end-stage pulmonary arterial hypertension (PAH) associated with congenital heart defects. For long-term outcome optimal right ventricular (RV) adaptation is crucial with precise assessment of its hypertrophy, dilatation and function. OBJECTIVES: Associations of electrocardiographic (ECG) and echocardiographic (ECHO) RV characteristics were analyzed. METHODS: Included were 52 patients (39F/13M), median age 45 years (24-78). Following ECG parameters were analyzed: Butler-Leggett formula (B-L), Sokolow-Lyon criterion (S-L), QRS duration (QRS), maximum spatial QRS vector magnitude (QRS max); and ECHO parameters: RV diameter (RVd), RV wall thickness (RVAW), RV/LV function. RESULTS: Following significant ECG-ECHO associations were demonstrated: S-L criterion and B-L formula with RVAW (p 120 ms only with severely dilated RV (RVd > 45 mm), while QRS max 33 mm); A new combined scoring system was introduced. CONCLUSIONS: In Eisenmenger syndrome RV hypertrophy is compensatory; diagnosis of prognostically unfavorable RV dilatation is therefore important. Combined ECG-ECHO analysis enables more accurate risk stratification. QRS duration > 120 ms seems to be a late marker; QRS max together with ECHO parameters may help to distinguish patients at higher risk for clinical deterioration (Tab. 3, Fig. 8, Ref. 53).

Double aortic arch anomalies in Children: A Systematic 20-Year Single Center Study.

Aortic arch anomalies underlie numerous congenital disorders. Effectively diagnosing and treating them requires close understanding of cardiovascular embryology. As our Center serves the entire pediatric population of our country, we performed a comprehensive retrospective analysis of all aortic arch anomalies diagnosed at our Center over the past 20 years. We analyzed 40 children with aortic arch anomalies, distinguishing two defect types: Group 1 displayed ring-forming anomalies, and Group 2 other types of aortic arch anomalies that did not form a vascular ring. We performed detailed morphological analyses using echocardiography, angiography, computed tomography, or magnetic resonance imaging and generated a catalog of all aortic arch anomalies present. Group 1 was represented by 25 patients; 40% with persistent both aortic arches, and 60% with various forms of right aortic arch and an incomplete left aortic arch. Group 2 was represented by 15 patients with complex heart defects. On the basis of our dataset, the incidence of all aortic arch anomalies was 0.033%, and of ring-forming pathologies 0.021%. Although aortic arch anomalies are rare, it is important to diagnose them correctly. It is critical to distinguish ring-forming types. Although in complex defects the aortic arch anomaly represents only an additive diagnosis, its correct definition could be crucial for further management. Cumulatively, this unique, long-term study provides a systematic patient registry and offers critical epidemiological data to aid the study of rare congenital cardiovascular defects. Clin. Anat. 30:929-939, 2017. © 2017 Wiley Periodicals, Inc.

Risk factors detection in chronic thromboembolic pulmonary hypertension, a tool for risk quantification?

BACKGROUND: Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by chronic thromboembolic obstruction in the pulmonary bed. The definitive pathogenesis remains incompletely explained, although multiple risk factors of CTEPH have been identified. The purpose of the study was to evaluate the risk profile of patients with CTEPH and the representativeness of risk factors, identify possible new CTEPH risk factors and specify the epidemiology of CTEPH in our country. METHODS: In 81 patients with CTEPH, well known risk factors were analyzed, and a detailed analysis of selected hematological parameters was investigated at a specialized hematology laboratory. RESULTS: CTEPH risk factors were identified as follows: pulmonary embolism (PE), deep vein thrombosis (DVT), thyreopathy, blood type other than "0", inflammatory bowel disease, malignancy, splenectomy, pacemaker. When compared to healthy controls, the following was observed: a significant decrease in platelet count, higher mean platelet volume, higher spontaneous platelet aggregation, increase in von Willebrand factor and fibrinogen. The median of risk factors representativeness was 3 (PE, DVT, blood type other than "0"). The prevalence of CTEPH in adult population in our country is estimated to be 1.8 per 100,000 inhabitants. CONCLUSION: In the study we confirmed multiple established risk factors of CTEPH, set their representativeness, identified some platelet abnormalities which could be a potential new risk marker and specified the prevalence of CTEPH (Tab. 5, Ref. 35).

The optimal timing for magnetic resonance imaging in long-term follow-up of patients after a complete correction of the Tetralogy of Fallot.

OBJECTIVES: Long-term pulmonary regurgitation (PR) leads to right ventricular (RV) dilatation and dysfunction. In patients after a complete correction of the tetralogy of Fallot (TOF) it represents the most frequent and high risk late complication. Magnetic resonance imaging (MRI) is an objective possibility for RV measurements; on the other hand MRI is complicated and not always accessible method. BACKGROUND: We analyzed echocardiography (ECHO) and MRI parameters regarding RV dilatation and function and the correlation between these two methods with the aim to define optimal ECHO parameters indicating a necessity for further investigations. PATIENTS AND METHODS: In 50 patients with TOF > 10 years, after a complete surgical correction, ECHO and MRI were performed. RESULTS: ECHO finding of end-diastolic diameter (EDD) of RV > 30mm was detected in 13 patients (26%) and in 30 patients (60%) RV EDD above 4 standard deviations (SD) their normal values was present. MRI finding of end-diastolic volume (EDV) > 160 ml/m2 was present in 14 patients (28%) and end-systolic volume (ESV) > 85 ml/m2 in 17 patients (34%). Significant correlations between ECHO and MRI RV diastolic measurements were found (p=0.0001, r=0.34, resp. p=0.001, r=0.39). PR was significantly affecting diastolic RV dilatation (p=0.0001), on the other hand. RV dysfunction resulted in systolic RV dilatation (p=0.007). PR did not correlate with RV function (p=0.56). CONCLUSIONS: MRI is a golden standard for exact RV measurements and for the indication of pulmonary valve replacement, but ECHO still can be used during long-term follow-up, defining the point for further and more exact RV measurements (Tab. 2, Fig. 11, Ref. 17). Full Text in free PDF www.bmj.sk.

Why is pulmonary hypertension so frustrating?

Pulmonary hypertension (PH) is a relatively uncommon but on the other hand all too frequently fatal disorder of the pulmonary arteries with diverse etiology. Vascular remodeling leads to increased pulmonary vascular resistance and this again to right ventricular overload and failure. Discussed are the current classification, pathogenesis and particularly treatment possibilities and contemporary trends, as well as the impact on the natural history of this disorder. The effect of conventional PH management of the past decades was insufficient. Understanding the pathophysiological mechanisms of the disease development was the greatest progress made in the last years. Targeting the pathogenic pathways of endothelial function is now being utilized in the so called specific therapy, which to some point improves patients' clinical course and life expectancy. The therapy of PH today seems to have the potential to slow down the progression of the disease and with some new promising molecules on the horizon there might be hope even to reverse the entire disease process. On the whole though, PH treatment remains frustrating because the majority of up-to-date managed and treated patients have still low exercise tolerance, unacceptable hemodynamics, suboptimal life quality and their mortality stays high. Despite all the advances, still the most important goal remains a wide-spread early detection of PH patients and associated conditions leading to PH (e.g. congenital heart defects and connective tissue diseases) and a centralized management of the disease in highly specialized expert centers (Tab. 1, Fig. 4, Ref. 36).

Clinical and hemodynamic picture of Eisenmenger syndrome.

Eisenmenger syndrome represents a very specific form of pulmonary arterial hypertension (PAH). Unlike patients with idiopathic PAH, in Eisenmenger syndrome the clinical and cardiac status is often relatively stable for a long time. On the other hand, due to cyanosis and due to maladaptive body reactions many noncardiac complications may occur. Fourteen patients (pts) with Eisenmenger syndrome were analyzed, with the mean age 41 years. Invasively measured pre-capillary pulmonary hypertension was severe (mean pulmonary arterial pressure 79 mmHg) and a statistically significant difference according to the site of defect was found (pre-tricuspid shunts vs post-tricuspid shunts = 57,5 mmHg vs 88 mmHg; p = 0.01). It is neccessary to keep in mind that non-cardiac events and complications may lead to death sooner then the right ventricular dysfunction or PAH (Tab. 7, Fig. 21, Ref. 16).

Arrhythmias in congenital heart defects.

AIM OF THE STUDY: Evaluation of the incidence and severity of late arrhythmias in patients with predisposing congenital heart defects--either due to the anatomy of the defect itself or as a result of a particular type of surgical intervention. PATIENTS AND METHODS: In a retrospective long-term study authors analyzed 158 patients (divided into 5 groups) with congenital heart defects after surgical correction. Evaluated were: the incidence of rhythm disturbances, the type of arrhythmia and the need for medication or intervention. RESULTS: The most rhythm disturbances occurred in patients after physiological correction of D-transposition of the great arteries (68.5%) and these patients also mostly needed medication or pacemaker implantation; followed were by patients with hypoplastic left heart syndrome after Fontan procedure (40%), then were patients after long-term correction of tetralogy of Fallot (31.1%), atrial septal defect sinus venosus type with partial anomalous pulmonary venous return after Warden correction (25.7%) and congenitally corrected L-transposition of the great arteries (25 %). Most of these arrhythmias were asymptomatic and there was no need to treat them. There was an increased incidence of arrhythmias with time (p < 0.05). DISCUSSION: During childhood in patients after surgical correction late arrhythmias mostly do not represent a severe problem, but with time, when reaching adulthood, this may be an issue. It is therefore very important to understand the anatomy, physiology and the arrhythmogenic substrate of every high risk congenital heart defect (Tab. 2, Fig. 6, Ref. 10).

Echocardiographic measurements of the aorta in normal children and young adults.

BACKGROUND: To be able to determine aortic valve and ascending aorta pathology, especially aortic root dilatation, it is important to establish normal aortic dimensions. The aim of the study was to measure the dimensions of the aorta in normal healthy children and young adults in Slovakia. PATIENTS AND METHODS: 702 healthy subjects, from newborns to 20 years of age, were examined at our institution. The study was carried out prospectively, by a single observer, using digitized two-dimensional (2D), Doppler and M-mode echocardiography. The aorta was measured at 3 sites: 1. aortic valve annulus, 2. sinuses of Valsalva, 3. sinotubular junction. Patients were divided into 28 groups according to their body surface area (BSA)--from 0.15 to 2.0 m2. All data were statistically evaluated (mean value, 5th and 95th percentile for all BSA groups) and regression equations were calculated for each parameter. RESULTS: All 3 measured aortic parameters correlated closely. Measures of correlation (R-squared) for aortic parameters with the square root of BSA were high: 0.89 for aortic valve annulus, 0.86 for sinuses of Valsalva and 0.86 for sinotubular junction (Tab. 3, Fig. 7, Ref 13). Full Text (Free, PDF) www.bmj.sk

Experiences with fenestration closure in patients after the Fontan operation.

BACKGROUND AND OBJECTIVES: [corrected] In this study, decision and timing of fenestration closure are discussed. We review our experiences with transcatheter occlusion of fenestration or residual baffle leak using Amplatzer occluder. PATIENTS AND METHODS: We have retrospectively reviewed the cath lab records of 26 patients who have undergone closure of fenestration (or another baffle leak) in period of 2002 to July 2006. Patients with the previous fenestrated Fontan procedure (intracardiac lateral tunnel, extracardiac conduit) with the presence of clinically important cyanosis, arterial desaturation less than 88 %, previously described leak by echocardiography, impaired exercise capability, absence of effusions and appropriate hemodynamic parameters were included in the study. RESULTS: The most frequent group were patients with hypoplastic left heart syndrome (HLHS) (27 %), second most common was L-transposition of great vessels (TGA), tricuspidal valve atresia (TA) and atresia of pulmonary artery (PA) (all of them 15.4 %). CONCLUSIONS: Our results confirm that after adjusting the hemodynamical risk, transcatheter fenestration occlusion in high risk patients might be a safe and effective method to significantly increase arterial O2 saturation. The long term benefits of closure especially at exertion are yet to be shown (Tab. 2, Ref 21). Full Text (Free, PDF) www.bmj.sk.

Functional outcome of surgery for coarctation of the aorta.

AIM OF STUDY: Coarctation of the aorta (CoA) accounts for about 8% of all congenital heart diseases. This represents about 30 new cases of coarctation every year in Slovakia, of which more than half will require surgical treatment. Over the past years, many children with this diagnosis have been successfully operated on at the Department of Cardiac Surgery of the Children's University Hospital, Bratislava. Thus, the need for a comprehensive follow-up and analysis of the postoperative well being of these young patients arises. Our study is therefore aimed at: 1) identifying factors affecting the incidence and persistence of postoperative systemic hypertension, as well as the need for heart failure and hypertension treatment, 2) assessing patients' psychomotor development following surgery for coarctation of the aorta. METHODS AND DATA: Between January 1992 and December 2001, a total of 201 patients with aortic co-arctation were operated on at our institution. The three classes of aortic coarctation namely: isolated coarctation, coarctation with ventricular septal defect and coarctation with complex cardiac anomalies were represented. Patients' medical records were retrospectively reviewed, with attention paid to such variables as the type of lesion, gradient across the site of coarctation, type of surgical technique employed and surgery-related complications. Subsequently, these patients were followed for a time period ranging between six months and ten years during which their psychomotor development and overall clinical state were evaluated. RESULTS: Of the 201 operated patients, 64 (33%) had early postoperative hypertension, so-called paradoxical hypertension. There was a significant correlation between the incidence of early postoperative hypertension and patients' age at operation (p < 0.0001). Age at operation was also a significant risk factor for late hypertension (p = 0.005). In both cases we noticed a higher incidence of high blood pressure in patients operated on after the age of six years. The need for antihypertensive treatment of patients with early postoperative hypertension decreases with a younger age at operation. At five years of follow-up, the need for antihypertensive treatment was 15%. Clinical psychological evaluation of 64 patients showed a normal distribution of patients' intelligence quotients. No surgery-related variable correlated with the incidence of delayed mental development. There was, however, a certain correlation between the presence of complex anomalies and low verbal IQ in examined patients (p = 0.04) CONCLUSIONS: Early surgical treatment of aortic coarctation reduces the likelihood of early, as well as late postoperative hypertension. The preferred protocol in our institution is early surgical treatment of patients at about the age of two years. The need for antihypertensive treatment of patients at five years of follow-up is 15%. Patients' psychomotor development following surgery for aortic coarctation is not affected by type of surgical procedure. On the whole, we can conclude that patients' psychomo-whole, we can conclude that patients' psychomotor development does not differ from the rest of population. There is however, a certain correlation between complex cardiac anomalies and a tal, Bratislava delay in some components of patients' psychomotor development. (Tab. 3, Fig. 4, Ref. 17.)

Is a learning curve for arterial switch operation in small countries still acceptable? Model for cooperation in Europe.

OBJECTIVES: To assess the results of a cooperative arrangement between Slovakia and Slovenia for neonatal cardiac surgery. The aim of the study was to analyze the performance of this approach for complete transposition of the great arteries (D-TGA). METHODS: Due to the overall small number of new patients with D-TGA in Slovenia a decision was made to avoid a prolonged learning curve by centralizing the experience of two countries at one center. Since 1995 the center in Slovakia has become the only referral center for Slovenia. Between February 1993 and June 2002 in this center, 147 patients with D-TGA underwent arterial switch operation (ASO). The median age at operation was 11 days, with 110 patients from Slovakia and 37 patients from Slovenia. RESULTS: Overall hospital mortality was 4.8% (seven patients). The 1, 2, 3, 4 and 5 year survival rate was 95% with the mean follow-up of 4 years. Operation before 1997 (P=0.0001) was identified as a risk predictor for death by multivariate analysis. There are no deaths among the 90 patients operated on after 1996. All patients are without medication with normal left ventricular function. Stenosis (gradient >30 mmHg) was noted in the pulmonary artery reconstruction in seven patients (5%). More than mild aortic regurgitation was noted in five patients (4%). The incidence of redo or reintervention was 5% at 5 years of follow-up. CONCLUSIONS: In the current era a prolonged learning curve for ASO is not acceptable to most European countries and their patients. The risk of surgery can be minimized by concentrating surgical experience as part of the quality control of congenital heart programs. If the number of new patients is small due to the birth rate and size of the population, institutions should merge activity. Such centralization amplifies the experience to the benefit of the patient.

Recoarctation and patients' freedom from re-intervention--a study of patients undergoing surgery for coarctation of the aorta at the Department of Cardiac Surgery of the Children's University Hospital, Bratislava.

BACKGROUND: Many children and young adults have undergone surgery for coarctation of the aorta. Individual surgical techniques employed in the treatment of patients and their effects on incidence of recoarctation were reviewed. METHODS AND DATA: Over the last ten years, a total of 201 cases of aortic coarctation were surgically treated at our department. The three forms of coarctation of the aorta recognized by the Society for Cardiothoracic Surgeons namely: isolated coarctation, coarctation with ventricular septal defects and coarctation with complex cardiac anomalies, were represented. RESULTS: 19 cases of recoarctation were recorded over the period of follow-up, representing 10% of all operated patients. On univariate analysis, the risk of recoarctation was closely linked with the following variables: use of resection and end-to-end anastomosis (p=0.01), age at operation less than one month (p=0.0002) and weight at operation less than 3 kg (p=0.01). The risk of recoarctation was found to be highest when resection and end-to-end anastomosis was employed in neonates (p<0.0001). Most cases of recoarctation as shown by the Kaplan-Meier plot occurred within the first year after surgery. CONCLUSION: The use of simple resection and end-to-end anastomosis in neonates is associated with a high risk of recoarctation. Hence, our preferred surgical technique in neonates is the extended resection and end-to-end anastomosis, which is associated with a considerably lower risk of recoarctation in this age group. (Tab. 4, Fig. 5, Re. 7)

Surgical treatment of transposition of the great arteries.

BACKGROUND: With regard to risk of the failure of systemic right ventricle after physiological correction of transposition of great arteries, anatomic repair is a current method of choice. OBJECTIVE OF STUDY: Analysis of results of surgical correction of transposition of great arteries performed between 1992 and October 1998. METHOD: A total of 111 patients were operated on for transposition of the great arteries. In the 1st group of patients (n = 21, mean age was 135 +/- 55 days), physiological correction according to Senning was performed. Patients of the 2nd group (n = 90, mean age was 15.4 +/- 21.6 days) underwent anatomic repair. RESULTS: Early mortality was 6% (7 patients). Mean follow-up is 2.95 years (1.9 SD) ranging from 0.2 years to 6.1 years. Actuarial 1-month survival in the whole cohort (n = 111) is 94%, and it remains unchanged at 1, 2, 3, 4, 5, and 6 years of follow-up. Patients, who underwent surgery after 1997, show significantly better survival compared to those operated before 1997 (p = 0.0997). Thus, a date of operation (before 1997) is the only significant risk factor for death. Survival in patients operated after 1997 (n = 40) is 98%. All patients belonging to the 2nd group are in functional group NYHA 1. CONCLUSION: Anatomic repair of transposition of the great arteries is a method of choice for treatment of this congenital heart defect. Left ventricle becomes systemic ventricle, which is essential in view of long-term performance. Psychomotor development of children, who underwent ASO, is comparable with that of healthy population. (Tab. 3, Fig. 3, Ref. 18.)