Turner syndrome (TS) that is due to a total or partial lack of an X chromosome affects about 1 in 2000 girls. The syndrome is characterized by short stature and gonadal dysgenesis. Its documented craniofacial features include retrognathic jaws, a short mandible, and a large cranial base angle. Our aim ...

Chiari malformation Type I (CM-I) is usually suspected in patients with slowly progressing neurological symptoms. However, in some instances, especially if syringomyelia is associated, an abrupt clinical onset is reported and is accompanied by an acknowledged risk of potentially severe clinical signs or even sudden death. Little is known about ...

Brugada Syndrome (BS) is a cardiac ion channel disorder linked to loss of function mutation in the SCN5A gene which affects the sodium current. The diagnosis is made on the ECG showing characteristic cove-shaped ST elevation in leads V(1) to V(3) in the absence of structural heart disease, electrolyte disturbance ...

Abrupt osmotic changes during rapid correction of chronic hyponatremia result in demyelinative brain lesions, but the sequence of events linking rapid osmotic changes to myelin loss is not yet understood. Here, in a rat model of osmotic demyelination syndrome, we found that massive astrocyte death occurred after rapid correction of ...

The incidence of sudden cardiac death in persons under age 40 is roughly 3 per 100 000 persons per year in Germany and North America. Many of these deaths are found to be due to hereditary heart diseases, often a primary structural heart disease associated with arrhythmia or else a ...

Background. Neutropenic patients are at risk for abdominal complications, yet their incidence and impact on patient morbidity and mortality has not been sufficiently evaluated. We aimed to assess a clinical rule for early detection of abdominal complications leading to death or transfer to intensive care in patients with chemotherapy-associated neutropenia. ...

Sudden infant death syndrome (SIDS) is always a devastating and unexpected occurrence. SIDS is the leading cause of death in the first 6 months after birth in the industrialized world. Since the discovery in 1998 of long QT syndrome as an underlying substrate for SIDS, around 10-20% of SIDS cases ...

The underlying aetiology of sudden arrhythmic death syndrome is predominantly inherited cardiac disease, and 'channelopathies' (cardiac ion channel disease) are the most common detectable cause of death. This heterogeneous group includes Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Common features include variable penetrance, sudden death due to ...

OBJECTIVE: Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60-70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with increased nuchal translucency (NT) demonstrate an aberrant lymphatic endothelial ...

Marfan syndrome (MS) is the most common dominant autosomic genetic disorder of the connective tissue. It has a reported incidence of 1 per each 5000 individuals without any distinction of gender or ethnicity. This pathology's diagnosis is mainly based on physical characteristics, presenting three main different symptomatic charts: neonatal Marfan, ...

Mitral valve (MV) prolapse (MVP) has a high prevalence of 2% to 3% in the general population and thus constitutes the most common cause of severe nonischemic MV regurgitation (MVR). MVP is also common in persons with the Marfan syndrome. However, to date, a large-scale population-based cohort study using modern ...

The case involved a 26-year-old woman with Marfan syndrome (MFS) and severe mitral valve regurgitation who hoped to bear a child. Anticipating future surgery to treat cardiovascular disease via a median sternotomy, we performed mitral annuloplasty via a right anterior thoracotomy. Mitral valve repair for mitral valve regurgitation via a ...

Marfan syndrome is a multisystemic connective tissue disorder associated with a mutation affecting fibrillin-1, the main component of microfibrils. Fibrillin-1 gene mutations may affect the carotid arterial wall. The aim of this study was to investigate carotid arterial mechanics using Velocity Vector Imaging (VVI) in patients with Marfan syndrome. Forty-five ...

BACKGROUND: Marfan syndrome is a potentially fatal disorder with cardiovascular, skeletal, and other manifestations that may also be seen in individuals without Marfan syndrome, making diagnosis difficult. Our goals were (1) to examine the ways in which patients have been recognized as having Marfan syndrome, (2) to examine the prevalence ...

To explore health-related quality of life as measured with Short Form 36 in adults with verified Marfan syndrome and to compare with the general population, other groups with chronic problems and studies on Marfan syndrome. Furthermore, to study potential correlations between the scores on the subscales of Short Form 36 ...

Marfan syndrome is a congenital disorder of the connective tissue with a long history of clinical and basic science breakthroughs that have forged our understanding of vascular-disease pathogenesis. The biomedical importance of Marfan syndrome was recently underscored by the discovery that the underlying genetic lesion impairs both tissue integrity and ...

Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn ...

We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ...

Recent studies have demonstrated that blockade of the angiotensin II type 1 receptor with losartan decreases aortic damage in an animal model of Marfan syndrome (a KI mouse model with a pathogenic mutation in the gene coding for fibrillin-1). To demonstrate a beneficial effect of losartan on aortic dilatation when ...

The augmentation index at a heart rate of 75 beats/min (AIx@HR75) and central pulse pressure (CPP) can be measured noninvasively with applanation tonometry (APT). In this observational study, we investigated the relationship between AIx@HR75, CPP and aortic disease in patients with Marfan-like syndromes. We performed APT in 78 consecutive patients ...

Patients with Marfan syndrome characteristically have an asthenic body habitus and are considered to be exempt from the obesity epidemic. To examine the prevalence and clinical impact of obesity in a cohort of adults with Marfan syndrome. Fifty outpatients (30 female) with a mean (+/- SD) age of 38+/-13 years ...

Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a glycoprotein that is the main constituent of the microfibrils of the extracellular matrix. Most mutations are unique and affect a single amino acid of ...

BACKGROUND: Triple X is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype. Most patients suffering from this syndrome are usually mentally normal or subnormal with no gross malformation. AIM: to report an unusual association between Triple X and Marfan disease in ...

Marfan syndrome is a systemic connective tissue disorder that is inherited in an autosomal-dominant pattern with variable penetrance. Although there are many clinical manifestations of this disease, the most life threatening are cardiovascular complications, including mitral valve prolapse and aortic root aneurysm. When the primary defect was discovered in the ...

Anterior and posterior meningoceles are the severest clinical expression of dural ectasia in patients with Marfan syndrome. Meningoceles and pseudomeningoceles have been reported from either asymptomatic, to causing headache, back pain, leg pain, radiculopathy, constipation and/or urinary symptoms. This article includes a case report of a 31-year-old woman, who presented ...

Cushing's syndrome and Zollinger-Ellison syndrome occur occasionally as a result of neuroendocrine cancers. The concurrence of the two syndromes has been considered to confer a poor clinical and therapeutic outcome. In this study, we are reviewing two patients with pancreatic islet cell carcinomas and with both Zollinger-Ellison and Cushing's syndromes, ...

Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. ...

Aortic dissection is a lethal complication in pregnant women with Marfan syndrome. To decrease arterial wall stress, beta-blockers have been used as standard treatment, although uterine contractions caused by beta-2-adrenergic receptor antagonism may result. Herein, we report a patient with Marfan syndrome who was given landiolol, a selective beta-1-adrenergic receptor ...

We aimed to compare the incidence of urinary incontinence in women with Marfan syndrome and controls, hypothesizing that connective tissue abnormality could contribute to urinary incontinence. A cross-sectional historical cohort study was conducted on 14 premenopausal women with Marfan syndrome and 534 controls using Urogenital Distress Inventory Short Form and ...

This case report describes the retreatment of a patient with Marfan syndrome whose earlier orthodontic and surgical treatment had been unsuccessful. Marfan syndrome is an inherited connective tissue disorder transmitted as an autosomal dominant trait. The disorder results from molecular defects in the fibrillin gene that are responsible for the ...

Patients with either Marfan syndrome or bicuspid aortic valve are at increased risk for aortic dilation and dissection, but occurrence of both conditions has barely been reported. Whether bicuspid aortic valve adversely impacts the cardiovascular outcome in Marfan syndrome patients is unknown. The objective was to investigate the prevalence of ...

BACKGROUND: Marfan Syndrome occurs in 8 to 10 per 100,000 of population/year. Ocular features of this syndrome have been extensively reported. We report two patients in the same family with miscellaneous complications of this syndrome. CASE REPORT: Two sisters with Marfan Syndrome were examined in our clinic. They revealed severe ...

OBJECTIVE: Marfan syndrome is an inherited disorder with systemic connective tissue involvement. The condition is clinically diverse and extremely pleiotropic. Though several articles had been published, no data from Thai individuals has ever been reported. Here we presented clinical manifestations and echocardiographic findings of Thai patients with Marfan syndrome. MATERIAL ...

The study of psychiatric disorders co-occurring with rare genetic syndromes has important therapeutic and pathophysiological implications. Electroconvulsive therapy (ECT) in schizophrenia with comorbid Marfan syndrome is challenging in view of multiorgan involvement. We report successful use of ECT in a patient who presented to us with catatonia and Marfan syndrome. ...

Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of the neural canal especially in ...

BACKGROUND: Aortic dilation and dissection is reported in patients with Turner's syndrome, both with and without cardiovascular risk factors. The bicuspid aortic valve is closely associated with dilated aortic root, although expression of aortic dilation is variable. The determinants for variable expression of aortic dilation in individuals with Turner's syndrome, ...

Loeys-Dietz syndrome is a newly recognized constellation that presents with aortic aneurysm or dissection similar to Marfan's syndrome. We describe successful surgical treatment in a 2-year-old with the syndrome in whom we performed a valve-sparing replacement of the aortic root because of significant dilation of the aortic root and the ...

We report a teenager with Marfan syndrome who presented to Cincinnati Children's Hospital Medical Center as part of a preoperative evaluation for an orthopedic procedure after asymptomatic arrhythmia was recognized. Continuous cardiac monitoring showed frequent premature ventricular contractions and nonsustained runs of ventricular tachycardia. Cardiac magnetic resonance imaging showed left ...

Sudden death of competitive athletes is rare. These deaths challenge the perception that trained athletes represent the healthiest segment of modern society. The increasing frequency of such reported deaths worldwide and the visibility of the issue is underlined by the high-profile nature of each case. The majority of these deaths ...

We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to ...

Marfan syndrome is a variable autosomal dominant disorder; most cases result from mutations of fibrillin-1. Diagnosis is guided by the Ghent nosology. The condition may manifest in the cardiovascular and ocular systems. Musculoskeletal manifestations include scoliosis, dural ectasia, protrusio acetabuli, and ligamentous laxity. Compared with patients with idiopathic scoliosis, patients ...

BACKGROUND: The aim of this study was to develop a simpler echocardiographic screening tool for aortic root dilation in pediatric patients with Marfan syndrome. Aortic root dilation represents the most common cause of morbidity and mortality in patients with Marfan syndrome. It is traditionally defined by nomograms, relating aortic root ...

Several successful cases of endovascular treatment of type B dissections in patients with Marfan syndrome have been reported. In our patient with Marfan syndrome, a type B dissection was successfully treated endovascularly. Three weeks after this procedure, a computed tomographic angiography (CTA) revealed a perforation of the aortic wall distal ...

BACKGROUND: Zollinger-Ellison syndrome (ZES) is a rare disorder caused by tumor secretion of the hormone gastrin, which results in gastric acid hypersecretion and secondarily complicated peptic ulcer and diarrhea. Until the development of H(2)-receptor antagonists and later proton pump inhibitors (PPIs), the disease was virulent, often associated with ulcer-related mortality, ...

PURPOSE: Aortic dissection (AoD) is one of the most common catastrophes involving the aorta. Nevertheless, early diagnosis remains to be a challenge in the Emergency Department (ED), particularly in young individuals. In this study, we attempted to identify the characteristics of acute AoD among young individuals, particular in patients with ...

Carcinoid syndrome, characterized by flushing, diarrhea, and valvular heart disease, can occur following carcinoid tumor metastasis to the liver and systemic release of bioactive hormones into the systemic circulation. Treatment of this devastating disease is hampered by the lack of an in vivo model that recapitulates the clinical syndrome. Here, ...

The serotonin syndrome is a potential side-effect of serotonin-enhancing drugs, including antidepressants such as selective serotonin reuptake inhibitors (SSRIs) and monoamine oxidase inhibitors (MAOIs). We recently reported a genetic mouse model for the serotonin syndrome, as serotonin transporter (SERT)-deficient mice have exaggerated serotonin syndrome behavioural responses to the MAOI tranylcypromine ...

BACKGROUND: As there is considerable overlap between the fasting serum gastrin concentrations found in Zollinger-Ellison syndrome and various common conditions such as Helicobacter pylori infection and acid suppressing medication use, establishing the cause of hypergastrinaemia in individual cases can sometimes be difficult. AIM: To review the causes of hypergastrinaemia and ...

There are limited numbers of reports concerning the management of pregnancy complicated by carcinoid tumors. Octreotide, the synthetic analogue of somatostatin, has been found to be beneficial in preventing the perioperative exacerbation of carcinoid syndrome. We present a case of the successful use of neuraxial analgesia/anesthesia for labor and vaginal ...