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connective tissue disorder cardiac manifestations

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...
October 14, 2016: 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...
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...
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
Marta Amado, Maria Angelina Calado, Rui Ferreira, Teresa Lourenço
Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents is described here. The pregnancy was uneventful and the mother had a term caesarean delivery. At birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows, arachnodactyly and hip dysplasia. The echocardiogram showed a mitral and tricuspid valve regurgitation and a long aortic arch...
2014: BMJ Case Reports
Cristina Ferreira Rabelo, Fabio Batistella, Ronaldo Nunes Godinho, Tiago Santini Machado, Flavio José Petersen Velho, Henrique Luiz Staub
OBJECTIVES: Myocarditis is a rare but serious manifestation of patients with systemic lupus erythematosus (SLE). Left ventricular noncompaction (LVNC) is a disorder of myocardial morphogenesis frequently associated to neuromuscular diseases. Hypertrabeculation, a cardinal echocardiographic feature of LVNC, might represent a morphological expression of a number of morbidities, nevertheless. The relationship of LVNC with connective tissue disorders such as SLE is unknown. We aim to present a case of a patient with SLE who recently showed features compatible with an atypical LVNC...
July 2014: Acta Reumatológica Portuguesa
Julia E von Oettingen, Wen-Hann Tan, Andrew Dauber
As a major component of the extracellular matrix, proteoglycans influence the mechanical properties of connective tissue and play an important role in cell-cell and cell-matrix interactions. Genetic defects of proteoglycan biosynthesis lead to multi-system disorders, often most prominently affecting the skeletal system and skin. Specific deficiencies in the enzymes involved in the biosynthesis of the linkage region between the core of the proteoglycan protein and its glycosaminoglycan side chains are known as linkeropathies...
June 2014: American Journal of Medical Genetics. Part A
Fausta Catapano, Stefano Pancaldi, Carlo Pace Napoleone, Lucia Barbara De Sanctis, Gaetano Gargiulo, Giuseppe Emiliani, Antonio Santoro
Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias, intestinal diverticula, and cardiac valvular abnormalities, are widely known manifestations. Instead intracardiac aneurysms have never been reported in adults with autosomal dominant polycystic kidney disease. We describe a 65-year-old patient with end-stage renal disease due to autosomal dominant polycystic kidney disease and an atrial septum aneurysm associated with platypnoea-orthodeoxia syndrome...
2012: Case Reports in Nephrology
Joshua J Solomon, Aryeh Fischer
The connective tissue diseases (CTDs) are a group of systemic disorders characterized by autoimmunity and autoimmune-mediated organ damage. The lung is a frequent target and all components of the respiratory system are at risk. Interstitial lung disease (ILD) represents a broad group of diffuse parenchymal lung injury patterns characterized by varying degrees of inflammation and fibrosis, is a common manifestation of CTD particularly common in systemic sclerosis, polymyositis/dermatomyositis, and rheumatoid arthritis, and is a leading cause of significant morbidity and mortality...
October 2015: Journal of Intensive Care Medicine
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