Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.

We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined as the underlying connective tissue disorder. Re-do valve sparing root and arch replacement gained excellent restoration of the aorta; 1-year-follow-up was uneventful.

Initial Angiotensin Receptor Blocker Response in Young Marfan Patients Decreases After 3 Years of Treatment.

Marfan syndrome is caused by mutations of the fibrillin-1 gene, which weakens the connective tissue integrity. Since 2003, bioavailability regulations of TGF-ß through fibrillin alterations have been presumed of being the culprit mechanisms for aortic aneurysm development. We present the analysis of our single-center Marfan children and adolescents cohort to assess the influence of age, sex, degree of cardiovascular involvement and dosage on losartan effectivity.

Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K Channel) Channel Function.

Background: Inherited forms of sinus node dysfunction (SND) clinically include bradycardia, sinus arrest, and chronotropic incompetence and may serve as disease models to understand sinus node physiology and impulse generation. Recently, a gain-of-function mutation in the G-protein gene GNB2 led to enhanced activation of the GIRK (G-protein activated inwardly rectifying K channel). Thus, human cardiac GIRK channels are important for heart rate regulation and subsequently, genes encoding their subunits Kir3.

Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology.

Turner syndrome (TS) is a common genetic disorder in females with high incidence of ascending aortic dilatation and even dissection occurring as early as in the second decade. Known risk factors (RF) are bicuspid aortic valves (BAV), coarctation of the aorta (CoA), and arterial hypertension. Since 10% of dissections occur in patients without RF, an intrinsic aortic wall abnormality has been postulated.

A single-center experience with the ross procedure over 20 years.

Background: The Ross procedure offers several potential advantages in a young patient population. The widespread use of the procedure is still limited due to the technical challenge. Pulmonary homograft stenosis and autograft dilatation remain a matter of concern.

Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome.

Since 2008, when angiotensin II type I receptor blockade with losartan was introduced in the prevention of cardiovascular manifestation of Marfan syndrome (MFS), a specific treatment to address the cardiovascular lesions became available. The present study aimed to compare the response of such in an unselected cohort of patients with genotyped MFS. At a tertiary university children's hospital, 20 pediatric and adolescent patients aged 1.

Reference values of aortic flow velocity integral in 1193 healthy infants, children, and adolescents to quickly estimate cardiac stroke volume.

The aortic velocity time integral (VTI) is an echocardiographic tool used to estimate cardiac output (CO) by multiplying it with the aortic valve (AV) area and heart rate (HR). Inaccurate measurement of AV diameter will lead to squared miscalculation of CO. The aortic VTI itself can serve as a left-ventricular (LV) output parameter.

Similarities and differences of the aortic root after arterial switch and ross operation in children.

Pulmonary root dilation and valve regurgitation if translocated into the aortic position is frequently seen in children with transposition of the great arteries (TGA) after an arterial switch operation, as well as in patients after the Ross procedure. Many mechanisms are thought to be responsible for the progressive dilation. Despite the differences between the 2 groups, the similarity of having the pulmonary valve and its adjacent tissue working in the systemic circulation might have a comparable effect on the neoaortic root dimensions and elasticity.

Morphology of the bicuspid aortic valve and elasticity of the adjacent aorta in children.

Bicuspid aortic valve (BAV) is a common congenital malformation with the known sequela of ascending aortic dilation. The morphology of the BAV and the elasticity of the adjacent ascending aorta appear to influence the outcome. We prospectively examined 48 pediatric patients with an isolated, native BAV for the morphology and size of the aortic valve, aortic root, sinotubular junction, and ascending aorta and their elasticity indexes.

Noninvasive measurement of atrial contribution to the cardiac output in children and adolescents with congenital complete atrioventricular block treated with dual-chamber pacemakers.

The contribution of atrial contraction to cardiac output (CO) has been the subject of extensive research but has yet to be quantified adequately in children and adolescents. Patients with third-degree atrioventricular (AV) block treated with pacemakers (PMs) are ideal candidates to assess the atrial contribution to CO by repeated measurements in single-chamber pacing mode (VVIR) and dual-chamber pacing mode (DDD/VDD). Hemodynamic measurements in children are often complicated by technical restrictions, but more recently a noninvasive method involving inert gas rebreathing has become available, which is an excellent tool for this age group.

Echocardiography predicts closure of patent ductus arteriosus in response to ibuprofen in infants less than 28 week gestational age.

Background: Patent ductus arteriosus (PDA) is a frequent problem in preterm infants, and its incidence is inversely correlated with gestational age. The efficacy of medical treatment decreases with decreasing gestational age (GA), and failure rates as well as ductus ligation rates of 40% have been reported in <28 week GA newborns. The aim of this study was to determine whether echocardiographic parameters can predict response to ibuprofen treatment of PDA.

Doppler-derived parameters of diastolic left ventricular function in preterm infants with a birth weight <1500 g: reference values and differences to term infants.

Transmitral flow parameters in preterm and term infants were compared in order to study differences in signal expression and temporal dynamics of left ventricular diastolic function. In 63 preterm infants between 26 and 33 weeks of gestation and 102 term infants, a Doppler survey was performed during 6 months after birth. Early and atrial filling-time velocity integrals and peak velocities were significantly lower in the preterm neonates.

Effect of angiotensin AT2 receptor stimulation on vascular cyclic GMP production in normotensive Wistar Kyoto rats.

In the present study in normotensive Wistar Kyoto rats (WKY), we investigated whether any angiotensin II (ANG II) increases in vascular cyclic GMP production were via stimulation of AT(2) receptors. Adult WKY were infused for 4h with ANG II (30 ng/kg per min, i.v.

Cardiac troponin I is increased after interventional closure of atrial septal defects.

This study was designed to assess possible myocardial injury caused by interventional closure of atrial septal defects (ASDs) compared to diagnostic catheterization by measuring cardiac troponin I (cTn-I). Forty patients were enrolled; in 33 ASDs were successfully closed, while in 7 a diagnostic balloon sizing of the defect was performed only. Total cTn-I increased significantly from 0.