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connective tissue disorder cardiac manifestations

Ashraf Abugroun, Osama Hallak, Fatima Ahmed, Safwan Gaznabi
Mixed connective tissue disease (MCTD) is a distinct entity of connective tissue disorders characterized by overlapping clinical features of various autoimmune diseases along with the presence of antibodies to ribonucleoprotein (anti-RNP). The prevalence of cardiac involvement in MCTD varies from 13% to 65% and accounts for approximately 20% of MCTD related mortality. In this case, we describe an elderly female patient with multiple complaints without a clear etiology on presentation. Echocardiogram revealed severe rapidly accumulating pericardial effusion causing tamponade necessitating pericardial window...
February 2018: Cardiology Research
Jean Jeudy, Charles S White, Seth J Kligerman, Jonathan L Killam, Allen P Burke, Jacob W Sechrist, Amar B Shah, Rydhwana Hossain, Aletta Ann Frazier
Advances in medical diagnosis reveal that coronary artery aneurysms (CAAs) may develop in several clinical scenarios and manifest variable symptoms, imaging appearances, and outcomes. Aneurysms are pathologically classified into three groups: atherosclerotic, inflammatory, and noninflammatory. The last category is associated with congenital, inherited, and connective tissue disorders. Overlap exists among the groups, because secondary atherosclerotic change may be present in an aneurysm of any cause. Atherosclerosis is the most common cause of CAAs in adults, and inflammation is considered the underlying mechanism...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Vito Pavone, Teresa Mattina, Piero Pavone, Raffaele Falsaperla, Gianluca Testa
INTRODUCTION: Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency...
May 2017: Journal of Orthopaedic Case Reports
Laura Muiño-Mosquera, Sylvia De Nobele, Daniel Devos, Laurence Campens, Anne De Paepe, Julie De Backer
BACKGROUND: Marfan syndrome (MFS) is a multisystemic hereditary connective tissue disease. Aortic root aneurysms and dissections are the most common and life-threatening cardiovascular disorders affecting these patients. Other cardiac manifestations include mitral valve prolapse, ventricular dysfunction and arrhythmias. Medical treatment of cardiovascular features is ultimately aimed at slowing down aortic root growth rate and preventing dissection. Losartan has been proposed as a new therapeutic tool for this purpose...
June 28, 2017: Acta Cardiologica
Amin M Abbas, Sami Medani, Tajeldin M Abdallah, Gasim I Gasim
OBJECTIVES: The aim of this study was to assess the clinical utility of esophageal manometry among Sudanese patients presenting to the National Centre for Gastrointestinal and Liver Diseases, Ibn Sina Hospital, Khartoum, Sudan. METHODOLOGY: Consecutive patients referred for esophageal manometry at the aforementioned center from July 2008 through January 2011 were included in the study. Manometric studies were done after stopping medicines with a known effect on esophageal motility and an overnight fast...
October 2016: International Journal of Health Sciences
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Giulia Carini, Valeria Cinquina, Nicola Chiarelli, Silvia Majore, Marina Colombi, Marco Castori
Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers-Danlos syndrome (EDS) with periventricular heterotopias" has been used in females with neurological, cardiovascular, integument and joint manifestations, but this nosology is still a matter of debate...
January 2017: American Journal of Medical Genetics. Part A
Benjamin James Kurth, Vanya Wagler, Michael Keith
In connective tissue disorders, the incidence of pericardial disease and pericardial effusion can be up to 58%, and if untreated, it can lead to cardiac tamponade which can be fatal. Physicians must have a high index of suspicion for this disease as diagnosis can be delayed while evaluating more common causes of tachycardia and hypotension in the immunosuppressed (ie, sepsis). We present a 55-year-old woman with a severe case of dermatomyositis, marked by significant weight loss, a bedridden state and hallmark cutaneous findings...
2016: BMJ Case Reports
Qian Peng, Yan Deng, Yuan Yang, Hanmin Liu
BACKGROUND: Marfan syndrome (MFS) is a heritable disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1). Neonatal Marfan syndrome (nMFS) is rare and the most severe form of MFS, involving rapidly progressive cardiovascular dysfunction leading to death during early childhood. The constant enrichment of the nMFS mutation spectrum is helpful to improve our understanding of genotype-phenotype correlations in the disease. Herein, we report a novel dominant mutation in exon 26 of FBN1 (c...
April 30, 2016: BMC Pediatrics
Yosuke Inoue, Kenji Minatoya, Tatsuya Oda, Tatsuya Itonaga, Yoshimasa Seike, Hiroshi Tanaka, Hiroaki Sasaki, Junjiro Kobayashi
OBJECTIVES: An entry located at aortic arch in acute type A aortic dissection (AAAD) is uncommon. It remains controversial whether or not aggressive primary entry resection should be routinely performed in such patients. We have adopted an aggressive strategy of entry site resection, including total arch replacement (TAR) in patients with arch tears. The purpose of this study was to investigate the efficacy of our surgical management approach, using aggressive primary entry resection...
September 2016: European Journal of Cardio-thoracic Surgery
Octavio D Reyes-Hernández, Carmen Palacios-Reyes, Sonia Chávez-Ocaña, Enoc M Cortés-Malagón, Patricia Garcia Alonso-Themann, Víctor Ramos-Cano, Julián Ramírez-Bello, Mónica Sierra-Martínez
BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome...
February 15, 2016: BMC Musculoskeletal Disorders
Anna Grzywa-Celińska, Monika Dyczko, Agata Rękas-Wójcik, Katarzyna Szmygin-Milanowska, Agnieszka Witczak, Stanisław Ostrowski, Wojciech Barud, Jerzy Mosiewicz
Chronic heart failure (CHF) is a condition in which both structure and functional capacity of cardiac muscle are impaired, resulting in ineffective peripheral tissue perfusion. Affecting numerous organs and systems, it is currently considered to be a systemic illness. Among significant, however until now, hardly recognized consequences of CHF there are ventilatory disorders. Their presence may be explained by proximity of heart and lungs inside rib cage or by close functional cooperation between these two organs...
October 2015: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Gokhan Arslan, Faruk Cingoz, Ugur Bozlar, Atilla Iyisoy
Spontaneous dissection of coronary artery (SDCA) is an extremely infrequent cause of acute cardiac ischaemic manifestations or sudden cardiac death with complex pathophysiology. This condition mostly affects young women in association with peripartum or postpartum status with no known risk factors for cardiovascular disease although some correlations have been noted with connective tissue disorders contraceptive use or intense physical activity. Herein, we report a case of spontaneous dissection of the left anterior descending artery during bed rest in a 24-year-old young man who had no risk factors except smoking or family history of coronary artery diseases...
June 2015: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
Aleksandra Djoković, Ljudmila Stojanović
Antiphospholipid syndrome (APS) or Hughes syndrome represents a systemic autoimmune disorder characterized by arterial and/or venous thrombosis, multiple and recurrent fetal losses, accompanied by persistently elevated levels of antiphospholipid antibodies (aPL). This syndrome is considered primary if unassociated with any other connective tissue disease, or secondary if it appears in association with other autoimmune disorders, mainly systemic lupus erythematosus. Cardiac manifestations in APS are integral part of the syndrome...
May 2015: Srpski Arhiv za Celokupno Lekarstvo
Mile Vranes, Ilija Bilbija, Aleksandar Mikic, Natasa Kovacevic-Kostic, Radmila Karan, Dejan Nikolic, Biljana Obrenovic-Kircanski, Milos Velinovic
BACKGROUND: Alcaptonuria, a rare metabolic disorder (1:250 000), is usually presented with symptoms such as arthropathies of weight bearing joints. CASE REPORT: In this case, a 65 year old woman was admitted to our hospital with severe aortic stenosis and no other symptoms that would suggest the existance of Alcaptonuria. Intraoperative findings of black discoloration of the affected valve and ascending aorta, pointed towards the diagnosis of cardiac ochronosis, what was then confirmed by a PH examination...
November 2014: Annali Italiani di Chirurgia
Giovanni Concistrè, Giovanni Casali, Paola Lilla Della Monica, Andrea Montalto, Federeico Ranocchi, Brenno Fiorani, Francesco Musumeci
AIM: Osteogenesis imperfecta (OI) is an inherited connective tissue disorder in which fragile bones readily cause fractures. Aortic root dilatation, aortic valve regurgitation and mitral valve prolapse are uncommon cardiovascular manifestations of OI. Cardiac surgery in these patients carries a high risk of complications due to increased tissue and capillary fragility. We describe an open heart surgery in a woman with isolated aortic valve regurgitation secondary to OI. MATERIAL OF STUDY: A 58-year-old woman was referred to our hospital for surgical correction of aortic valve regurgitation...
November 2014: Annali Italiani di Chirurgia
T Iu Smol'nova
AIM: To elucidate genetically determined character of cardiovascular pathology with realization of its clinical manifestations at systemic, organ and tissue levels in patients with connective tissue dysplasia (CTD) at obstetric-gynecological setting. MATERIALS AND METHODS: This study involved 614 women with classified and non-classified forms of CTD including 268 primigravidas, mean age 24.8 ± 3.46 yr (group 1) and 346 gynecological patients with genital prolapse, mean age 44...
2013: Klinicheskaia Meditsina
Bieke Van der Veken, Lynn Roth, Guido R Y De Meyer, Wim Martinet
OBJECTIVE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder, characterized by extensive mineralization of connective tissues and fragmentation of elastin fibres. PXE patients may sporadically suffer from severe cardiovascular complications caused by accelerated atherosclerosis. Consistent with this finding, recent evidence suggests that elastin fragmentation in arteries of atherosclerotic mice leads to unstable plaques and human-like complications such as myocardial infarction, stroke and sudden death...
December 2014: Acta Cardiologica
Liat Samuelov, Eli Sprecher
Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins and desmoplakin, which form the intracytoplasmic desmosomal plaque. Desmosomal genodermatoses are caused by mutations in genes encoding the various desmosomal components...
June 2015: Cell and Tissue Research
M G Klinnikova, E I Yuzhik, V I Pichigin, E L Lushnikova
The type and intensity of remodeling (structural reorganization) of the myocardium in Wistar rats were studied under conditions of experimental chronic dyslipidemia and verapamil treatment. Long (64 days) atherogenic diet caused dyslipidemia and led to reduction of the heart percent weight. The cytopathic effect of dyslipidemia manifested in more intense lytic injuries of cardiomyocytes, development of diffuse and small focal cardiosclerosis under conditions of manifest circulatory disorders. Remodeling of the myocardium during various periods of the experiment manifested in a higher connective tissue/cardiomyocyte volume ratio (by 74% after 30 days and by 58-62% after 64 days of experiment)...
November 2014: Bulletin of Experimental Biology and Medicine
Adel Boueiz, Paul M Hassoun
The explosive growth of medical literature on pulmonary hypertension (PH) has led to a steady increase in awareness of this disease within the medical community during the past decade. The recent revision of the classification of PH is presented in in the main guidelines. Group 1 PH or pulmonary arterial hypertension (PAH) is a heterogeneous group and includes PH due to inheritable, drug-induced, and toxin-induced causes and to such underlying systemic causes as connective tissue diseases, human immunodeficiency viral infection, portal hypertension, congenital heart disease, and schistosomiasis...
July 2014: Annals of Thoracic Medicine
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