keyword
Keywords connective tissue disorder car...

connective tissue disorder cardiac manifestations

https://read.qxmd.com/read/38439730/a-case-of-noonan-syndrome-and-kyrle-disease-casualty-or-causality
#1
JOURNAL ARTICLE
Marco Brusasco, Arlind Kalaja, Francesca Satolli, Claudio Feliciani, Maria Beatrice De Felici Del Giudice
A 39-year-old Caucasian woman affected by Noonan Syndrome (NS) mutated in RAF1 was referred to us with itchy lesions on her limbs that had appeared two months earlier. Clinically, there were multiple umbilicated papules with a hyperkeratotic central plug, localized on the upper and lower limbs (Figure 1, a-b). The patient had no personal history of diabetes mellitus or chronic renal failure, but suffered from hypertrophic cardiomyopathy. Blood tests showed no abnormalities. On histological examination of a skin lesion, an ectatic hair follicle with a hyperkeratotic ostium was observed with fragments of hair, inflammatory cells, and epidermal perforation...
December 2023: Acta Dermatovenerologica Croatica: ADC
https://read.qxmd.com/read/37934178/progressive-keratoconus-in-a-patient-with-severe-pectus-excavatum-and-a-cartilage-oligomeric-matrix-protein-gene-mutation-a-case-report
#2
JOURNAL ARTICLE
Nefeli Eleni Kounatidou, Georgios Kondylis, Olga Klavdianou, Nandini Venkateswaran, Eleni Fryssira, Sotiria Palioura
INTRODUCTION: Keratoconus is a progressive ocular disorder associated with numerous systemic diseases, many of which affect the musculoskeletal system. Although the etiology and pathophysiology of the disorder remain elusive, recent studies suggest a significant role of genetic predisposition in the pathogenesis of keratoconus. This case report aims to elucidate a potential genetic association in a patient presenting with keratoconus, severe pectus excavatum, generalized muscular weakness, and skeletal deformities...
January 1, 2024: Eye & Contact Lens
https://read.qxmd.com/read/37891508/genotype-phenotype-spectrum-and-prognosis-of-early-onset-marfan-syndrome
#3
JOURNAL ARTICLE
Aurelija Kemezyte, Ruta Gegieckiene, Birute Burnyte
BACKGROUND: Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants clustered in exons 24-32 of fibrillin-1 (FBN1) gene result in more severe clinical phenotypes. Furthermore, genotype-phenotype correlation studies suggested that more severe cardiovascular phenotypes were related to variants held responsible for haploinsufficiency. Our objective was to analyze the differences in clinical manifestations and genotypes of individuals with early-onset Marfan syndrome and to assess their impact on management strategies...
October 28, 2023: BMC Pediatrics
https://read.qxmd.com/read/37784218/a-case-report-of-extra-articular-manifestation-of-rheumatoid-arthritis-rheumatoid-nodules-in-lungs
#4
Saltanat Bektyrganova, Doskhan Kozhakhmet, Alexey Kim, Abay Baigenzhin, Galymzhan Togizbayev, Ainur Doszhan, Natalya Krivoruchkо, Alexey Pak, Manana Peradze, Timur Sarsengaliyev
Rheumatoid arthritis is a systemic inflammatory disorder primarily affecting joints but not limited to the joints alone. Extra-articular manifestations involve skin, ocular, gastrointestinal, pulmonary, cardiac, renal, neurological, and hematological systems. Among them, skin manifestations (20%) are most common, presenting as nodules on the extensor surfaces of the upper and lower extremities. In rare cases these nodules can also be detected within the heart and lungs. Interestingly, rheumatoid nodules are often seen in patients on leflunomide, methotrexate, or tumor necrosis factor-alpha antagonists...
October 2, 2023: International Journal of Rheumatic Diseases
https://read.qxmd.com/read/37750108/marfan-syndrome-giant-ascending-aortic-aneurysm-and-left-ventricular-noncompaction-the-heart-in-jeopardy
#5
Najlaa Belharty, Selma Siagh, Tanae El Ghali, Nawal Doghmi, Mohamed Cherti
Marfan syndrome (MFS) is a heritable connective tissue disorder that is caused by a mutation of the  FBN1  gene. It is characterized by cardiovascular, skeletal, and ocular manifestations, with thoracic aortic aneurysms being the main cardiovascular complication. Unconventionally, MFS can present with left ventricular noncompaction (LVNC), which introduces a supplementary aspect of cardiac dysfunction. We herein report the case of a 42-year-old male with MFS who presented with congestive heart failure and cardiogenic shock...
August 2023: Curēus
https://read.qxmd.com/read/37706308/haematological-and-other-manifestions-in-the-presence-of-antiphospholipid-antibodies-in-a-multicentric-paediatric-cohort
#6
JOURNAL ARTICLE
Patricia Morán Álvarez, África Andreu-Suárez, Liz Caballero-Mota, Sussana Gassiot-Riu, Rubén Berrueco-Moreno, Joan Calzada-Hernández, Mónica Vázquez-Díaz, Alina Boteanu, Virginia Messia, Luigi Giovannelli, Fabrizio De Benedetti, Jordi Antón-López, Claudia Bracaglia
OBJECTIVES: To identify the variables associated with the development of haematological manifestations in the presence of antiphospholipid antibodies (aPLs) in a paediatric cohort. METHODS: We conducted a multicentric retrospective cohort study of children under the age of 18 years. RESULTS: One hundred and thirty-four children were included; 12.2% had at least one thrombotic event (TE) and 67% at least one non-criterion manifestation. Of them, 90% did not develop any TE...
September 8, 2023: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/37378181/spontaneous-coronary-artery-dissection-in-young-patients-a-case-series-and-review-of-current-management-algorithm
#7
Dhan B Shrestha, Jurgen Shtembari, Kerolus Shehata, Harsha Gondi, Anish Munagala, Esteffania Villegas Santamaria, Prakash Raj Oli, Daniela Kovacs, Sandeep Khosla
Spontaneous coronary artery dissection (SCAD) is a rare but increasingly recognized non-atherosclerotic cause of acute coronary syndrome. Common risk factors for SCAD are coronary atherosclerosis, female gender, peripartum period, systemic inflammatory conditions, and connective tissue disorders. It manifests as myocardial ischemia and infarction, arrhythmia, and sudden cardiac death. We present a case series of two young men and one young female with SCAD who had chest pain and were diagnosed with SCAD-associated ST-elevation myocardial infarction...
May 2023: Curēus
https://read.qxmd.com/read/37311658/a-case-of-reactive-granulomatous-dermatitis-associated-with-neonatal-lupus-erythematosus
#8
Monica H Xing, Oluwakemi Onajin, Girish Venkataraman, Sarah L Stein
Neonatal lupus erythematosus (NLE) is an uncommon disorder affecting approximately one out of 20 000 live births in the United States. Common manifestations of NLE include cutaneous eruptions and cardiac involvement. The typical rash of NLE most closely resembles the rash of subacute cutaneous lupus erythematosus both clinically and histopathologically. We present a case of reactive granulomatous dermatitis (RGD) associated with NLE in a 3-month-old male in whom the initial histopathology and immunohistochemistry were concerning for hematologic malignancy...
June 13, 2023: Journal of Cutaneous Pathology
https://read.qxmd.com/read/37274823/case-report-major-fetal-cardiac-pathology-associated-with-a-novel-ctnnd1-mutation
#9
Xuliang Zhao, Xu Li, Weiwei Sun, Zhuojun Wei, Min Yu, Man Zhang, Ruixia Tian
BACKGROUND: The p120-ctn protein, encoded by CTNND1 , is involved in intercellular connections and regulates epithelial-mesenchymal transformation. CTNND1 mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and oral deformities, it can also present as congenital heart disease, limb deformities, and neurodevelopmental disorders. CASE DESCRIPTION: We report a prenatal case of a major cardiac malformation at 24+3 weeks of gestation...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/37241174/marfan-syndrome-beyond-aortic-root-phenotyping-using-cardiovascular-magnetic-resonance-imaging-and-clinical-implications
#10
Evangelia Nyktari, Maria Drakopoulou, Panagiotis Rozos, Sofia Loukopoulou, Thomas Vrachliotis, Soultana Kourtidou, Konstantinos Toutouzas
Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged as additional causes of morbidity and mortality...
May 14, 2023: Medicina
https://read.qxmd.com/read/37162197/mitochondrial-myopathy-in-a-21-year-old-man-presenting-with-bilateral-lower-extremity-weakness-and-swelling
#11
JOURNAL ARTICLE
Kavya Bharathidasan, Abbie Evans, Fabiana Monte Alegre Olmos Fernandez, Arunee Tansrisook Motes, Kenneth Nugent
Bilateral lower extremity weakness and swelling can have several causes. Although often underdiagnosed, mitochondrial myopathy is more prevalent in the general population than more commonly suspected diseases, such as Guillain-Barre syndrome. The clinical manifestations of mitochondrial disease can be broadly classified into 3 categories: chronic progressive external ophthalmoplegia, skeletal muscle-central nervous system syndromes, or pure myopathy. Cardiac abnormalities occur in 30% to 32% of cases, mostly in the form of hypertrophic cardiomyopathy, dilated cardiomyopathy, or conduction abnormalities...
2023: Journal of Primary Care & Community Health
https://read.qxmd.com/read/37126428/genetic-problems-diagnosis-and-cardiovascular-manifestations-of-loeys-dietz-syndrome
#12
JOURNAL ARTICLE
Subo Dey, Ryan Cheikhali, William H Frishman, Wilbert S Aronow
Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder with multisystem involvement of wide spectrum, found to be associated with transforming growth factor-β pathway. LDS is characterized by craniofacial, skeletal, cutaneous, vascular abnormalities along with aortic aneurysm and aortic dissection contributing to mortality and morbidity at a young age. Therefore, timely diagnosis and intervention in patients with LDS is vital. Several gene mutations have been described as contributing factors of LDS, causing widespread and aggressive vascular disease...
April 28, 2023: Cardiology in Review
https://read.qxmd.com/read/37007359/neurological-psychiatric-and-multisystemic-involvement-of-fragile-x-syndrome-along-with-its-pathophysiology-methods-of-screening-and-current-treatment-modalities
#13
REVIEW
Raunak Ranjan, Saumya Jha, Priyadarshi Prajjwal, Ansh Chaudhary, Pragya Dudeja, Neel Vora, Mohammed A Mateen, Mohammed A Yousuf, Bhupendra Chaudhary
Fragile X syndrome (FXS) is a hereditary disease that predominantly leads to intellectual disability (ID) in boys. It is the second prominent cause of ID, which manifests as a result of the atypical development of the cytosine-guanine-guanine (CGG) region. This irregular extension of the CGG region gives rise to methylation and silencing of the fragile X mental retardation 1 ( FMR1 ) gene, causing a loss of the fragile X mental retardation 1 protein (FMRP). This reduction or loss of FMRP is the main cause of ID...
February 2023: Curēus
https://read.qxmd.com/read/36505128/a-forme-fruste-of-marfan-syndrome-a-case-report
#14
Nejood Alsheikh, Samira A Hawsawi, Abeer AlGhamdi, Lolo Alkhwaiter, Aseel Alsulimani, Ihab Suliman
Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by manifestations in the musculoskeletal system (joint laxity, scoliosis), the cardiovascular system (aortic dilation), and the ocular system (ectopic lens). We report a case of a 37-year-old male with a genetically confirmed MFS. His mother and brother were also both confirmed cases of MFS. While the patient exhibited the characteristic physical features of MFS in general appearance, he did not show any cardiac manifestations of the disease...
November 2022: Curēus
https://read.qxmd.com/read/36495114/fetal-akinesia-deformation-sequence-syndrome-associated-with-recessive-ttn-variants
#15
JOURNAL ARTICLE
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat
Arthrogryposis multiplex congenita (AMC) [also known as multiple joints contracture or Fetal Akinesia Deformation Sequence (FADS)] is etiologically a heterogeneous condition with an estimated incidence of approximately 1 in 3000 live births and much higher incidence when prenatally diagnosed cases are included. The condition can be acquired or secondary to fetal exposures and can also be caused by a variety of single-gene disorders affecting the brain, spinal cord, peripheral nerves, neuromuscular junction, muscle, and a variety of disorders affecting the connective tissues (Niles et al...
December 10, 2022: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/36340521/cardiac-complications-in-marfan-syndrome-a-review
#16
REVIEW
Jayant Singh, Anil Wanjari
Marfan syndrome (MFS) is a rare inherited disorder of the connective tissue with an autosomal dominant mode of inheritance which happens as a result of a mutation in the fibrillin-1 ( FBN1 ) gene located on chromosome 15q21.1. This mutation results in the defective formation of microfibrils and increased levels of active transforming growth factor beta (TGF beta), leading to defective connective tissue synthesis. These changes affect various parts of the body but most notably affected are the heart, eyes, and the musculoskeletal system...
September 2022: Curēus
https://read.qxmd.com/read/36164999/association-of-pectus-excavatum-with-ventricular-remodelling-and-mitral-valve-abnormalities-in-marfan-syndrome
#17
JOURNAL ARTICLE
Dalia Abdulmonem L Hashem, Victor Siang Hua Chan, Kate Hanneman, Rachel M Wald, Paaladinesh Thavendiranathan, Maral Ouzounian, Erwin Oechslin, Gauri R Karur
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX with cardiovascular manifestations of MFS, biventricular size and function. Methods: MFS adults undergoing cardiac MRI were retrospectively evaluated. Exclusion criteria were incomplete cardiac MRI, significant artifacts, co-existent ischaemic or congenital heart disease. Haller Index (HI) ≥3.25 classified patients as PEX positive (PEX+) and PEX negative (PEX-)...
September 27, 2022: Canadian Association of Radiologists Journal
https://read.qxmd.com/read/36035033/atypical-presentation-of-aortic-dissection-in-a-young-female-and-the-utility-of-point-of-care-ultrasound-in-identifying-aortic-dissection-in-the-emergency-department
#18
Nidhi Kaeley, Anand Gangdev, Santosh S Galagali, Ankita Kabi, Krishna Shukla
In the absence of prompt diagnosis and treatment, aortic dissection is an extremely dangerous and often fatal medical condition, of which acute coronary syndrome, stroke, limb ischemia, pulmonary embolism, and acute mesenteric ischemia are all possible manifestations. Neurological manifestations of aortic dissection are often missed at presentation. We report a case of a 23-year-old female without any prior characteristics of connective tissue disorder presenting to the emergency department with headache and right upper limb weakness and the utility of bedside point-of-care ultrasound (POCUS) for diagnosing aortic dissection...
July 2022: Curēus
https://read.qxmd.com/read/35819109/asymmetrical-aortic-root-aneurism-in-patient-with-filamin-a-mutation
#19
Sofia Martin-Suarez, Gregorio Gliozzi, Vincenzo Pagano, Ornella Leone, Alberto Foà, Andrea Ruggiero, Silvia Snaidero, Elisa Cerchierini, Davide Pacini
We report the case of a 28 years old woman with periventricular nodular heterotopia, due to Filamin A mutation. She had an asymmetrical aneurysm of the aortic root, involving, above all, noncoronary Valsalva sinus. She was asymptomatic and she had moderate aortic regurgitation. Reimplantation of the aortic valve with replacement of the aortic root was successfully accomplished. Filamin A is a protein that is encoded by the FLNA gene, which shows X-linked dominant inheritance. This protein is involved in neuronal migration, angiogenesis, cytoskeleton regulation, and cell signaling...
July 12, 2022: Journal of Cardiac Surgery
https://read.qxmd.com/read/35633574/clinical-features-and-outcome-of-1054-patients-with-systemic-sclerosis-analysis-of-reuma-pt-ssc-registry
#20
JOURNAL ARTICLE
Raquel Freitas, Patrícia Martins, Eduardo Dourado, Tânia Santiago, Francisca Guimarães, Bruno Miguel Fernandes, Salomé Garcia, Beatriz Samões, Ana Sofia Pinto, Nuno Gonçalves, Maria Helena Lourenço, Emanuel Costa, Margarida Rocha, Maura Couto, Ana Catarina Duarte, Filipe Araújo, Inês Cordeiro, Fátima Godinho, Catarina Resende, Maria João Salvador, Ana Cordeiro, Maria José Santos
BACKGROUND: Systemic sclerosis (SSc) is a rare connective tissue disorder with heterogeneous manifestations and outcomes. Besides differences in disease characteristics among distinct ethnic groups and geographical regions, several questions regarding the impact of the disease and the effectiveness of treatments remain unanswered. To address these questions, the Rheumatic Diseases Portuguese Register (Reuma.pt) launched a specific protocol for the prospective follow-up of SSc patients...
January 2022: ARP Rheumatol
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