Jaroslav Hruda

Prenatal detection of transposition of the great arteries reduces mortality and morbidity

To evaluate the prenatal detection of transposition of the great arteries (TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre‐ and postsurgical mortality and morbidity.

Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner's syndrome

A 17-year-old girl with Turners syndrome underwent two cardiac operations due to severe mitral stenosis with pulmonary hypertension, caused by a parachute-like mitral valve. The anomaly was associated with persistence of the left superior caval vein, which drained to the coronary sinus, and non-compaction of the left ventricular myocardium. The association of these lesions is rare in patients with Turners syndrome.

Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort

To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.

Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome

A 14-month-old boy with double aneuploidy and a double aortic arch suffered from frequently recurrent severe feeding and respiratory problems. Chromosomal analysis showed a 48,XXY + 21 karyotype: a double aneuploidy of Down syndrome (DS) and Klinefelter syndrome (KS). Only four cases of double aneuploidy (DS + KS) associated with congenital heart defects have been published of which none had a double aortic arch. Our case report should draw attention to the possibility of a double aortic arch in patients with severe feeding and respiratory problems and a double aneuploidy.

Clinical significance of a persistent left superior vena cava

We agree that the possibility of internal standardization within the image with the calculation of fractional moving blood volume is of great interest and may in future allow us to obtain an accurate index of organ perfusion3. Moreover, the recent reported experiences on the human fetus are based on the manual acquisition of several 2D sections onto which the power Doppler image is superimposed4. This approach still presents several limitations, including the difficulty in identifying the same anatomical plane for imaging, the hemodynamic changes that may occur with changes in cardiac cycles and fetal behavior during the time required to obtain the different 2D sections, and the lack of standardized and commercially available software for such analysis. With all due respect to the fine work of Dr Welsh and other groups3,4, we found their approach difficult to apply in clinical practice. We are therefore inclined to continue following our technique until internal standardizing methods become available.

Ruptured aneurysm of the right coronary sinus of Valsalva in a child with Down syndrome.

Aneurysms of one of the aortic sinuses of Valsalva are rare congenital or acquired lesions. Here we present the case of an adolescent with Down syndrome with ruptured aneurysm of the right coronary sinus into the right atrium. All sinuses of Valsalva were normal during cardiological screening owing to Down syndrome at the age of 2 weeks. Paediatricians should have a low threshold for referring patients with Down syndrome for cardiac re-evaluation because of the new onset of cardiac symptoms or cardiac physical findings, even in the situation in which there are normal echocardiographic findings in the past.

Postnatal outcome of fetal isolated ventricular size disproportion in the absence of aortic coarctation

Cardiac ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, but approximately 50% of fetuses do not have CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with fetal ventricular size disproportion in the absence of CoA after birth.

Postnatal outcome of fetal isolated ventricular size disproportion in the absence of aortic coarctation: Outcome of ventricular size disproportion without CoA

Cardiac ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, but approximately 50% of fetuses do not have CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with fetal ventricular size disproportion in the absence of CoA after birth.

The effect of the introduction of the three‐vessel view on the detection rate of transposition of the great arteries and tetralogy of Fallot

The aim of this study was to analyze the annual detection rate (DR) of transposition of the great arteries (TGA) and tetrology of Fallot (ToF), after the introduction of the three‐vessel view as a mandatory plane in 2012.

The outcome of isolated prenatal ventricular size disproportion in the absence of aortic coarctation

Cardiac ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, but approximately 50% of fetuses do not have CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with fetal ventricular size disproportion in the absence of CoA after birth.