Predictors of exercise capacity in patients with atrial correction of transposition of great arteries.

OBJECTIVES: To examine the relationship of clinical, biochemical and imaging parameters to maximum oxygen uptake in patients after atrial correction of transposition of great arteries. BACKGROUND: Exercise tolerance is a key determinant of quality of life in patients with adult congenital heart disease. It is determined by a large scale of factors often different from general cardiology. METHODS: 86 consecutive patients after Senning correction of TGA were subjected to clinical and echocardiographic examination, Holter monitoring, blood tests of NT-proBNP, MRI of the heart and exercise test. Parameters of these examinations were correlated to VO2 max. RESULTS: The average age of patients was 28±3.5 years. The average systemic right ventricular function determined by MRI was 51.9±7.9 %. The average NT-proBPN was 124.3±23.6 ng/l, VO2 max. 31.7±6.5    ml/kg/min and the heart rate reserve 106±24 /min. Neither systemic right ventricular systolic function nor   NT-proBPN predicted VO2 max., whereas the heart rate reserve did (p=0.003). CONCLUSION: An inability to increase heart rate during exercise noted in a considerable number of patients after atrial switch of TGA caused a decreased exercise tolerance. It is not solely the global systolic function of either ventricle that influences the exercise performance, rather it is the ability to increase heart rate and overall cardiac output appropriately (Tab. 3, Fig. 6, Ref. 28).

A pilot study on peak systolic velocity monitoring of fetal anemia after administration of chemotherapy during pregnancy.

OBJECTIVES: To monitor fetal anemia during administration of chemotherapy to the fetus's mother. STUDY DESIGN: Between 2007 and 2012 six patients with malignancy diagnosed during pregnancy were included in our prospective study. For evaluation of fetal anemia, peak systolic velocimetry (PSV) of the middle cerebral artery is considered the best method. The patients were repeatedly examined one day before and on the third day after the administration of chemotherapy. At least three measurements were performed and the highest value was used as appropriate. Multiples of the median (MoM) were calculated using the website http://www.perinatology.com/calculators/MCA.htm. When the MoM reached 1.29, moderate anemia was diagnosed. RESULTS: The women's average age was 30 years. The average gestational age at diagnosis was 20.7 weeks of pregnancy. Borderline fetal anemia was detected in only in one patient. After delivery newborns were examined by standard pediatric evaluation and blood count was provided. There was no evidence of any newborn anemia. CONCLUSIONS: Chemotherapy administered during pregnancy is becoming more frequent due to increasing knowledge and data on such cases. Close monitoring of the fetus should be performed in specialized centers. For detection of chemotherapy-induced anemia, PSV measurement should be employed.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency and 3-methylglutaconic aciduria. In this paper, we present clinical, biochemical and molecular data of the first four Czech patients from four unrelated families diagnosed with this rare disease. The mean age of onset was 5.5 ± 3.8 months. One child suffered from sudden cardiac death at the age of 2 years, the age of living patients is between 3 and 13 years. Muscle hypotonia was present in all four patients; cardiomyopathy and growth retardation in three and neutropenia in two of them. Two patients manifested a dilated and one patient a hypertrophic cardiomyopathy. A characteristic laboratory abnormality was the intermittently increased excretion of 3-methylglutaconic acid. Three novel hemizygous mutations in the TAZ gene were found (c.584G>T; c.109+6T>C; c.86G>A). We conclude that Barth syndrome should be included in differential diagnosis of cardiomyopathy in childhood, especially in the cooccurrence of dilated cardiomyopathy and 3-methylglutaconic aciduria.

Heart failure treated with low-dose milrinone in a full-term newborn.

A term newborn with a hypocontractile myocardium complicating persistent pulmonary hypertension of the newborn was successfully treated with a low-dose phosphodiesterase III inhibitor milrinone. Echocardiography diagnosed heart failure with a left ventricular ejection fraction of 35% and a left ventricular shortening fraction of 18% and severe persistent pulmonary hypertension of the newborn with oxygenation index of 28. Milrinone was started at an initial dose of 50 mcg/kg, followed by continuous infusion of 0.20 mcg/kg/min. With lowdose milrinone oxygenation index decreased to 3 within 6 hours, left ventricular ejection fraction and left ventricular shortening fraction increased to 57%, and 30%, respectively. Low doses of milrinone might be promising in the treatment of heart failure and persistent pulmonary hypertension of the newborn in term newborns.

Atrioventricular conduction time in fetuses assessed by Doppler echocardiography.

We performed measurement of mechanical atrioventricular conduction time intervals in human fetuses assessed by Doppler echocardiography and provided reference values. We found that atrioventricular conduction time interval was prolonged with gestational age and decreased with increasing fetal heart rate. No correlation between gestational age and heart rate was found. Using normal limits established by this study, mechanical atrioventricular interval >135 ms in the 20(th) week and/or >145 ms in the 26(th) week of gestation could be suspected of having the first-degree AV block. We compared reference values with fetuses of mothers with anti-SSA Ro/SSB La autoantibodies, being in risk of isolated congenital heart block development. One of 21 fetuses of mothers with positive autoantibodies was affected by prolonged atrioventricular interval according to the established limits, with sinus rhythm after the birth.

Fetal cardiology in the Czech Republic: current management of prenatally diagnosed congenital heart diseases and arrhythmias.

Reliable diagnosis of congenital heart defects and arrhythmias in utero has been possible since the introduction of fetal echocardiography. The nation-wide prenatal ultrasound screening program in the Czech Republic enabled detection of cardiac abnormalities in 1/3 of patients born with any congenital heart disease and up to 83 % of those with critical forms. Prenatal frequency of individual heart anomalies significantly differed from the postnatal frequency. Fetal isolated complete atrioventricular block and supraventricular tachycardia may lead to heart failure and are important causes of fetal mortality. The regression of heart failure was achieved by a conversion to the sinus rhythm in the supraventricular tachycardia and by increase of ventricular rate in the complete atrioventricular block.

Coagulation profile and liver function in 102 patients after total cavopulmonary connection at mid term follow up.

OBJECTIVE: To examine coagulation factors and liver function test abnormalities in patients after total cavopulmonary connection (TCPC). DESIGN: Cross sectional study comprising clinical and echocardiographic evaluation, and biochemical and coagulation profile screening. SETTING: Tertiary referral centre. METHODS: 102 patients aged 4-24 years (median 10 years) at one to eight years (median five years) after TCPC were examined. All patients were maintained on a low dose of aspirin. 96% of patients were in a good clinical condition (New York Heart Association class I or II). No intracardiac thrombi were detected on echocardiography and ventricular function was good in 91% of patients. RESULTS: Total bilirubin was increased in 27% and gamma glutamyltransferase in 54% of patients. Serum total protein, albumin, and prealbumin were normal in almost in all patients. Compared with the control group, patients after TCPC had significantly lower fibrinogen, factor V, factor VII, and protein C concentrations, prolonged international normalised ratio, and increased antithrombin III concentration. Factor V concentration was abnormally decreased in 35%, factor VII in 16%, and protein C in 28% of patients. Antithrombin III was increased in 23% of patients. Factor VII, factor V, protein C, and antithrombin III correlated significantly with serum prealbumin. There was also a significant correlation between procoagulant factor VII and both anticoagulant protein C and antithrombin III. CONCLUSIONS: Almost half of patients after TCPC had laboratory signs of mild cholestasis. Decreased liver synthesis of procoagulant and anticoagulant factors was observed but overall coagulation homeostasis appeared to be in balance in this selected group of patients with a good clinical outcome.

Long term results of percutaneous balloon valvoplasty of congenital aortic stenosis: independent predictors of outcome.

OBJECTIVE: To evaluate long term results and independent predictors of outcome of aortic valvoplasty. DESIGN: Retrospective follow up study. Independent predictors of outcome identified by multiple logistic regression. SETTING: Tertiary referral centre. PATIENTS: 269 consecutive patients treated at the median age of 8 months (0-23 years): 80 (30%) under 4 weeks, 59 (22%) between 4 weeks and 1 year, and 130 (48%) over 1 year. The follow up period was up to 14.8 years (median 5.3, in survivors 6.4 years). INTERVENTIONS: Percutaneous balloon valvoplasty with mean (SD) balloon to annulus ratio 0.97 (0.08). MAIN OUTCOME MEASURES: Restenosis > or = 70 mm Hg, grade 3 aortic insufficiency, cusps disruption, surgery, death, and valvoplasty failure (significant restenosis or insufficiency or surgery or death). RESULTS: The mortality rate was 10.4% (n = 28), the restenosis rate was 16.7% (n = 45), significant insufficiency developed in 22.3% (n = 60), surgery was needed in 20.1% (n = 54), and "valvoplasty failure" occurred in 41.6% (n = 112) patients. Mean (SEM) survival probability 14.4 years after the procedure was 0.89 (0.02) and mean (SEM) probability of surgery-free survival was 0.50 (0.08). The independent predictors were as follows. For restenosis: small aortic annulus; for cusp disruption: large aortic annulus; for insufficiency: bicuspid aortic valve; for need for surgery: bicuspid aortic valve; for death: small aortic annulus, low left ventricular shortening fraction, and low sequential number of the valvoplasty; and for valvoplasty failure: small aortic annulus, bicuspid aortic valve, and high grade of mitral insufficiency. CONCLUSION: Independent predictors of unfavourable outcome are small aortic annulus, bicuspid aortic valve, poor function of left ventricle or mitral valve, and limited operator experience.

[Intraumbilical therapy of fetal supraventricular tachycardia]. / Intraumbilikální lécba supraventrikulární tachykardie plodu.

The supraventricular tachycardia represents the life threatening disease, which may cause severe heart failure or even during foetal life. The authors present case report of the foetus aged 23 weeks of gestation in whom the supraventricular tachycardia was resistant to standard transplacental treatment by using digoxin and sotalol. The successful rhythm conversion was achieved by intracordal infusion of amiodarone. Further uncomplicated course of pregnancy reached term and healthy boy was subsequently born without having additional psychomotoric complications.