Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

Vascular ◽  
2020 ◽  
pp. 170853812093458 ◽  
Author(s):  
Rizwan Iqbal ◽  
Samiha Alom ◽  
Jalal BinSaeid ◽  
Amer Harky
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Aortic Aneurysms ◽  
Current Evidence ◽  
Medical Subject Headings ◽  
Genetic Studies ◽  
Mesh Terms ◽  
Life Threatening ◽  
History Of ◽  
Systemic Manifestations

Loeys–Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys–Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys–Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized in each relevant section. Loeys–Dietz syndrome is an autosomal dominant genetic disorder which has combined and multi-systemic manifestations. The increased breakdown of extracellular matrix predisposes an individual to developing aneurysms in the aortic tree which is undoubtedly the most significant complication of this disorder. Understanding the pathophysiology and natural history of Loeys–Dietz syndrome and regular surveillance is important to plan prophylactic interventions to prevent life-threatening aortic emergencies which can be fatal. Loeys–Dietz syndrome is an aggressive genetic condition that predisposes an individual to the development of life-threatening aortic aneurysms. Our understanding of Loeys–Dietz syndrome remains ever-changing and it is likely that the knowledge regarding its diagnosis and treatment will become more clearly defined in the coming years with deeper genetic studies.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

scholarly journals A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

2020 ◽  
Vol 8 ◽  
pp. 232470962090923
Author(s):  
Mohanad Hamandi ◽  
Madison L. Bolin ◽  
Joy Fan ◽  
Allison T. Lanfear ◽  
Seth K. Woolbert ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Genetic Disorder ◽  
Aortic Disease ◽  
Connective Tissue Disorder ◽  
Aortic Aneurysms ◽  
Gene Variation ◽  
Life Threatening

Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease.

scholarly journals Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Michelle Fog Andersen ◽  
Anette Bygum
Keyword(s):  
Idiopathic Thrombocytopenic Purpura ◽  
Hereditary Angioedema ◽  
Care Setting ◽  
Autosomal Dominant ◽  
Bleeding Episode ◽  
Genetic Disorder ◽  
Acute Attack ◽  
Autosomal Dominant Trait ◽  
Thrombocytopenic Purpura ◽  
Life Threatening

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

scholarly journals Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome

2019 ◽  
Vol 46 (1) ◽  
pp. 41-43
Author(s):  
Bradley S. Kane ◽  
Kamran Shamsa
Keyword(s):  
Sudden Cardiac Death ◽  
Natural History ◽  
Aortic Dissection ◽  
Crucial Role ◽  
Cardiac Death ◽  
Genetic Disorder ◽  
Family Members ◽  
Aortic Aneurysms ◽  
Physician Awareness ◽  
History Of

Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.

scholarly journals Animal Models in the Research of Abdominal Aortic Aneurysms Development

2017 ◽  
pp. 899-915 ◽  
Author(s):  
N. PATELIS ◽  
D. MORIS ◽  
D. SCHIZAS ◽  
C. DAMASKOS ◽  
D. PERREA ◽  
...  
Keyword(s):  
Animal Model ◽  
Animal Models ◽  
Animal Studies ◽  
Aortic Aneurysms ◽  
Abdominal Aortic ◽  
Pubmed Database ◽  
Life Threatening ◽  
History Of ◽  
Aneurysm Development ◽  
Starting Date

Abdominal aortic aneurysm (AAA) is a prevalent and potentially life threatening disease. Many animal models have been developed to simulate the natural history of the disease or test preclinical endovascular devices and surgical procedures. The aim of this review is to describe different methods of AAA induction in animal models and report on the effectiveness of the methods described in inducing an analogue of a human AAA. The PubMed database was searched for publications with titles containing the following terms “animal” or ‘‘animal model(s)’’ and keywords “research”, “aneurysm(s)’’, “aorta”, “pancreatic elastase’’, “Angiotensin”, “AngII” “calcium chloride” or “CaCl2”. Starting date for this search was set to 2004, since previously bibliography was already covered by the review of Daugherty and Cassis (2004). We focused on animal studies that reported a model of aneurysm development and progression. A number of different approaches of AAA induction in animal models has been developed, used and combined since the first report in the 1960’s. Although specific methods are successful in AAA induction in animal models, it is necessary that these methods and their respective results are in line with the pathophysiology and the mechanisms involved in human AAA development. A researcher should know the advantages/disadvantages of each animal model and choose the appropriate model.

A Review of Current Evidence of Olmesartan Medoxomil Mimicking Symptoms of Celiac Disease

2014 ◽  
Vol 28 (2) ◽  
pp. 189-192 ◽  
Author(s):  
Michele L. Sanford ◽  
Angela K. Nagel
Keyword(s):  
Celiac Disease ◽  
Villous Atrophy ◽  
Olmesartan Medoxomil ◽  
Current Evidence ◽  
Data Synthesis ◽  
Refractory Celiac Disease ◽  
Mesh Terms ◽  
Potential Association ◽  
Life Threatening ◽  
Eighth Edition

Objective: To review the evidence of an association between olmesartan medoxomil and symptoms mimicking celiac disease. Data Sources: Literature was searched in PubMed (1965-November 2013) using the key words or MeSH terms olmesartan, enteropathy, celiac disease, sprue, and diarrhea. References from the Food and Drug Administration (FDA) and Dipiro’s Pharmacotherapy eighth edition textbook were also reviewed. Data Synthesis: There have been recent implications of olmesartan medoxomil being linked to symptoms mimicking celiac disease. Investigators first identified the association in 22 patients who presented with presumed refractory celiac disease. Upon further evaluation, it was discovered that these symptoms improved when olmesartan was discontinued. In response to this report, additional case studies have been published. DeGaetani et al also further analyzed patients with seronegative villous atrophy from the Celiac Disease Center and found that olmesartan accounted for 22% of previously unclassified sprue cases. Conversely, the authors of the ROADMAP trial, which compared olmesartan to placebo, found no significant differences in the incidence of gastrointestinal adverse effects. Conclusions: There is growing evidence supporting the association between olmesartan and sprue-like symptoms; however, further research is warranted. These symptoms can be life threatening and clinicians should be aware of the potential association.

scholarly journals Hereditary angio-oedema as a rare cause of small-bowel obstruction

2019 ◽  
Vol 12 (10) ◽  
pp. e231186
Author(s):  
Bilal Jamil ◽  
Muhammad Saulat Naeem ◽  
Tochukwu Anachebe ◽  
Muhammad Hamid Majeed
Keyword(s):  
Small Bowel ◽  
Small Bowel Obstruction ◽  
Bowel Obstruction ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Mucosal Tissues ◽  
The Face ◽  
Life Threatening ◽  
History Of ◽  
Esterase Inhibitor

A 52-year-old man with known hereditary angio-oedema (HAE) presented with a 2-day history of progressive severe abdominal pain, distension, nausea, vomiting and constipation. CT of his abdomen and pelvis showed small-bowel obstruction and ascites. HAE is a rare autosomal dominant disorder caused by a C1 esterase deficiency and involves episodic oedema of subcutaneous and mucosal tissues. It commonly affects the face and limbs, causing deformity; the respiratory tract, causing life-threatening laryngeal swelling; and the gastrointestinal tract, causing small-bowel obstruction. An infusion of a C1 esterase inhibitor was given to the patient. His symptoms resolved within 6 hours, and a repeat CT showed complete resolution 24 hours later. Small-bowel obstruction in HAE is often misdiagnosed, leading to ineffective treatment and unnecessary surgery. Therefore, this should be suspected in patients with HAE presenting with an acute abdomen, and clinicians should understand the unique treatment required.

scholarly journals Adult-diagnosed Chronic Granulomatous Disease: The Need to Increase Awareness

2021 ◽  
Author(s):  
Joseph Baxter ◽  
Derek Smith ◽  
Charles Webb
Keyword(s):  
Chronic Granulomatous Disease ◽  
Lupus Erythematosus ◽  
Fungal Infections ◽  
Genetic Disorder ◽  
Immunosuppressive Drugs ◽  
Granulomatous Disease ◽  
Multiple Systems ◽  
Life Saving ◽  
Life Threatening ◽  
History Of

ABSTRACT Chronic granulomatous disease is genetic disorder characterized by the inability of phagocytes to produce sufficient oxidative burst needed to kill intracellular organisms. Patients have recurrent, life-threatening infections involving multiple systems including the lungs, skin, lymph nodes, and liver. The majority of patients with chronic granulomatous disease are diagnosed in childhood although some may present in adulthood due to a milder phenotype. Unfortunately, these patients may also present with concomitant autoimmune diseases. We describe a 48-year-old woman with a history of immune thrombocytopenia and systemic lupus erythematosus on immunosuppressive therapy. She developed subsequent bacterial and fungal infections initially attributed to immunosuppressive drugs. Further evaluation revealed the diagnosis of chronic granulomatous disease. We review the diagnosis and treatment of chronic granulomatous disease in hopes to increase awareness of this disease in adulthood in order to initiate potential life-saving prophylactic antibiotics.

scholarly journals Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

2021 ◽  
Vol 25 (2) ◽  
pp. 128-132
Author(s):  
So Jeong Kim ◽  
Jeong Eun Lee ◽  
Hyun Duck Kwak ◽  
Mi Seon Kang ◽  
Seong Ah Yu ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Kidney Biopsy ◽  
Morning Glory ◽  
Morning Glory Syndrome ◽  
First Case ◽  
Whole Exome ◽  
History Of ◽  
Systemic Manifestations ◽  
Optic Disc Anomaly

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

scholarly journals Systemic manifestations and treatment algorithm of food allergy

2021 ◽  
Author(s):  
Amal Saleh Akeel ◽  
Mohammed Abdulaziz Aljawi ◽  
Ibrahiem Fahad Mutaki ◽  
Afnan Mousa Maashi ◽  
Fahad Abdullah Almohaizey ◽  
...  
Keyword(s):  
Food Allergy ◽  
Treatment Algorithm ◽  
Food Hypersensitivity ◽  
Multiple Organ ◽  
Current Evidence ◽  
Common Symptom ◽  
Severe Anaphylaxis ◽  
Life Threatening ◽  
Systemic Manifestations ◽  
Favorable Safety

Food allergy or hypersensitivity can be defined as the presence of an observable immune secondary reaction to the administration of certain proteins that are present within the ingested foods. It has been previously estimated that around 2-10% of the general population suffer from IgE-mediated food allergy. Furthermore, identification of the manifestations is a key point to achieve appropriate evaluation and management of this condition. In this literature review, we aim to discuss the systemic manifestations and treatment algorithm for patients who suffer from a food allergy, according to the current evidence from studies in the literature. Gastrointestinal and skin-related manifestations have been reported to be the most common symptom. However, respiratory tract symptoms are also common and might severely deteriorate the affected patients. The development of severe anaphylaxis is also life-threatening with multiple organ affection. The appropriate management of food hypersensitivity is mainly based on the proper intervention from exposure to the related allergens. In addition, another appropriate management is early sensitization during the first few months of infancy to manage the symptoms of affected patients. Additionally, it should also be noted that most children usually develop tolerance, and the reported allergy to certain types of foods during childhood usually fades away by the age from 8 to12 years old and also during the period of adolescence. Future studies are needed to develop adequate management modalities with favorable safety and efficacy outcomes.

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