TGFβ level in healthy and children with Marfan syndrome-effective reduction under sartan therapy.

Introduction: Transforming growth factor β (TGFβ) metabolism plays an important role in the pathogenesis of Marfan syndrome (MFS). Accordingly, drug therapy uses TGFβ receptor blockade to slow down the cardiovascular manifestations, above all aortic root dilatation. Angiotensin II type 1 receptor blockers (ARBs) have been shown to reduce TGFβ levels in adults.

Tricuspid valve prolapse as an early predictor for severe phenotype in children with Marfan syndrome.

Aim: In Marfan syndrome, various cardiovascular pathologies, such as aortic dilatation and mitral valve pathologies, already occur in childhood and determine course of the disease. This study aimed to establish additional cardiovascular risk markers for severe Marfan phenotypes. We investigated tricuspid valve prolapse (TVP) and its predictive value for outcome of paediatric Marfan disease.

Outcomes of extracorporeal membrane oxygenation and cardiopulmonary bypass in children after drowning-related resuscitation.

Drowning is one of the leading causes of accidental deaths in children worldwide. However, the use of long-term extracorporeal life support (ECLS) in this setting is not widely established, and rewarming is often achieved by short-term cardiopulmonary bypass (CPB) treatment. Thus, we sought to add our experience with this means of support as a bridge-to-recovery or to-decision.

Genotype-Phenotype Correlation in Children: The Impact of Variants on Pediatric Marfan Care.

Currently, no reliable genotype-phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating a cysteine (cys-missense) and alterations not affecting cysteine.

"Tailored" endovascular pulmonary valve and root replacement for rupture of a dilated homograft.

Current balloon expandable and self-expanding valves have limitations for the treatment of the enlarged right ventricular outflow tract. We report the first use of a tailored Zenith graft in composition with an Edwards Sapien S3 valve as an alternative to high-risk surgery for the treatment of a spontaneously ruptured homograft in an adult congenital heart disease patient.

The transition of pediatric Marfan patients to adult care: a challenge and its risks.

Background: Care for patients with Marfan syndrome (MFS) has improved substantially in recent decades. Increasing clinical knowledge and genetic analysis allow early diagnosis of the disease in childhood. Because of the earlier initiation to preventive and medical treatment, patients' life expectancy has risen.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

Purpose: Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management.

Methods: We analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity.

The Pulmonary Artery in Pediatric Patients with Marfan Syndrome: An Underestimated Aspect of the Disease.

Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children.

Health-related quality of life is unimpaired in children and adolescents with Marfan syndrome despite its distinctive phenotype.

Aim: Marfan syndrome (MFS) is a progressive, life-threatening genetic disorder of the connective tissue, which causes impaired quality of life (QoL) in adults. This study investigated the quality of life in children and adolescents, taking into account their gender, age and how MFS affected their organs.

Methods: This prospective nonrandomised single-centre study included 46 patients with verified MFS with a mean age of 10.

Kid-Short Marfan Score (Kid-SMS) Is a Useful Diagnostic Tool for Stratifying the Pre-Test Probability of Marfan Syndrome in Childhood.

Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due to false diagnosis. We published the Kid-Short Marfan Score (Kid-SMS) in 2012 to stratify the pre-test probability of MFS in childhood.

Retrospective analysis of the effect of angiotensin II receptor blocker versus β-blocker on aortic root growth in paediatric patients with Marfan syndrome.

Objectives: Cardiovascular pathology, including aortic root dilation at the level of sinus of Valsalva (SV), is one of the major causes of morbidity in paediatric patients with Marfan syndrome (MFS). β-Blocker (BB) is well established to slow aortic dilation in MFS. Less is known about the effectiveness of angiotensin II receptor blocker (ARB) on aortic dilation in paediatric patients with MFS.

Impact of age and gender on cardiac pathology in children and adolescents with Marfan syndrome.

Cardiac pathologies are the major aspect in the treatment strategies for Marfan syndrome (MFS). In this progressive disease, less is known about manifestations and progression of cardiovascular symptoms in children. To define a certain decision regarding therapeutic options, knowledge concerning the onset of cardiovascular findings is essential.

The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome.

Aim: Due to age-dependent manifestations, diagnosis of Marfan syndrome (MFS) in children and adolescents is sophisticated. Although revised Ghent criteria is a major step forward, its utility in children is still restricted due to expensive and technically advanced diagnostics. As early diagnosis submits long-term benefits concerning prognosis, the need of an appropriate diagnostic tool for risk stratification of suspected paediatric patients with Marfan is justified.