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Cardiomegaly

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https://www.readbyqxmd.com/read/28690487/cant%C3%A3%C2%BA-syndrome-associated-with-ovarian-agenesis
#1
Helena Fryssira, Stavroula Psoni, Styliani Amenta, Eirini Tsoutsou, Christalena Sofocleous, Emmanouil Manolakos, Maria Gavra, Hermann-Joseph Lüdecke, Johanna-Christina Czeschik
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated ABCC9 or KCNJ8 genes. We present a 4-year-old girl with developmental delay, distinctive coarse facial features, and generalized hypertrichosis apparent since birth. The investigation revealed absent ovaries and a hypoplastic uterus which have not been previously described...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28665906/characteristics-of-patients-with-congestive-heart-failure-or-chronic-obstructive-pulmonary-disease-readmissions-within-30-days-following-an-acute-exacerbation
#2
Austin Castillo, Hawa Edriss, Kavitha Selvan, Kenneth Nugent
BACKGROUND: The Hospital Readmissions Reduction Program targets Medicare patients with congestive heart failure (CHF) and chronic obstructive pulmonary disease (COPD) and penalizes hospitals that have increased 30-day readmission rates for these patients. The main goals of this study were to determine the clinical explanations for readmissions within 30 days, to identify possible deficiencies in patient care, and to identify typical characteristics of patients who were readmitted to the hospital...
July 2017: Quality Management in Health Care
https://www.readbyqxmd.com/read/28662915/a-new-patient-with-intermediate-severe-salla-disease%C3%A2-with-hypomyelination-a-literature-review-for-salla-disease
#3
Rebecca Barmherzig, Garrett Bullivant, Dawn Cordeiro, David S Sinasac, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: Likely pathogenic variants in SLC17A5 results in allelic disorders of free sialic acid metabolism including (1) infantile free sialic acid storage disease with severe global developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; (2) intermediate severe Salla disease with moderate to severe global developmental delay, hypotonia, and hypomyelination with or without coarse facial features, and (3) Salla disease with normal appearance, mild cognitive dysfunction, and spasticity...
June 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28659827/increased-postnatal-cardiac-hyperplasia-precedes-cardiomyocyte-hypertrophy-in-a-model-of-hypertrophic-cardiomyopathy
#4
Emily T Farrell, Adrian C Grimes, Willem J de Lange, Annie E Armstrong, J Carter Ralphe
Rationale: Hypertrophic cardiomyopathy (HCM) occurs in ~0.5% of the population and is a leading cause of sudden cardiac death (SCD) in young adults. Cardiomyocyte hypertrophy has been the accepted mechanism for cardiac enlargement in HCM, but the early signaling responsible for initiating hypertrophy is poorly understood. Mutations in cardiac myosin binding protein C (MYBPC3) are among the most common HCM-causing mutations. Ablation of Mybpc3 in an HCM mouse model (cMyBP-C(-/-)) rapidly leads to cardiomegaly by postnatal day (PND) 9, though hearts are indistinguishable from wild-type (WT) at birth...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28627835/clinical-and-molecular-delineation-of-a-novel-cys1050phe-missense-mutation-in-the-abcc9-gene-in-a-korean-patient-with-cant%C3%A3%C2%BA-syndrome
#5
HyoIn Kim, SeongWoo Kim, HaRa Jeon, JiYong Kim, JongHa Yoo, MoonWoo Seong, SungSup Park
Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up. Here we report the first case of Cantú syndrome in Korea and the associated changes in overall development with rehabilitation over several months.
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28591192/perinatal-outcomes-and-congenital-heart-defect-prognosis-in-53313-non-selected-perinatal-infants
#6
Donghua Xie, Hua Wang, Zhiyu Liu, Junqun Fang, Tubao Yang, Shujin Zhou, Aihua Wang, Jiabi Qin, Lili Xiong
OBJECTIVE: To evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population. METHODS: The population-based surveillance data used in this assessment of CHDs were based on birth defect surveillance data collected from 2010-2012 in Liuyang City, China. Infants living with CHDs were followed up for 5 years to determine their prognosis. Prevalence, prenatal diagnosis, perinatal outcomes, and total and type-specific prognosis data were assessed using SPSS 18...
2017: PloS One
https://www.readbyqxmd.com/read/28484098/fibrinous-pericarditis-secondary-to-bacterial-infection-in-a-cat
#7
Michihito Tagawa, Chihiro Kurashima, Genya Shimbo, Hiroshi Omura, Kenji Koyama, Noriyuki Horiuchi, Yoshiyasu Kobayashi, Keiko Kawamoto, Kazuro Miyahara
A three-year-old spayed domestic short-haired cat presented for evaluation of weight loss, cardiomegaly and pleural effusion. Echocardiographic examination demonstrated a thickened pericardium with mild pericardial effusion and a large volume of pleural effusion characterized by exudate. Although the cat was treated with antibiotics, the clinical symptoms did not improve. The cat developed dyspnea and died on day 7. Necropsy revealed a large amount of modified transudates ascites, pleural effusion and markedly dilated pericardium...
June 10, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28462556/double-chambered-right-ventricle-a-rare-diagnosis
#8
Nitesh Pansari, H Raghavendra, Hemant Mahur, Mahesh Dave
A 27 years old female was admitted to our hospital with complaints of swelling of feet and abdomen, pain abdomen and exertional dyspnea from last 1 week. On examination she was found to have congestive heart failure. Chest x-ray revealed mild cardiomegaly with left pleural effusion and electrocardiography showed right axis deviation with right ventricular hypertrophy. By echocardiography she was diagnosed to have double chambered right ventricle without any other congenital heart anomaly. She was started on medical treatment following which she recovered well and she was advised for surgery...
March 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28457048/asymptomatic-presentation-of-large-cardiac-hydatid
#9
Amey Beedkar, Rohan Parikh, Pradeep Deshmukh
Hydatid cyst is a tissue parasitic infection caused by tapeworm Echinococcus granulosus. Common location for hydatid cysts are the liver (65%) and the lungs (25%). Cardiac hydatid cyst is seen rarely, occurring in about 0.5-2% of all cases of hydatid disease. We present this case of 45 years female who presented with short duration of dry cough and atypical chest pain. Chest X ray showed cardiomegaly with round bulge at the right heart border and curvilinear calcification in left upper abdomen in the region of spleen...
February 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28414679/misses-opportunity-tof-diagnoses-in-4th-decade-of-life
#10
O Baniahmad, T Jarreau, A Johnson
CASE: A 40 year old woman with a history of HIV, congestive heart failure secondary to an unknown congenital heart defect, and hypertension presented to our emergency department with worsening edema. On room air, oxygen saturation was 55 percent . On 5L of oxygen via nasal cannula, oxygen saturation was 88 percent . Physical examination was notable for central cyanosis, facial and lid edema, a II/VI holosystolic murmur across right chest radiating to entire right back hemithorax, decreased breath sounds at bases with pulmonary crackles, clubbing of fingers and edema of bilateral lower extremities...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28414664/gonococcal-endocarditis-the-gift-that-stops-giving-an-uncommon-presentation-of-a-common-disease
#11
G Olayemi, M Oferczak, A Elagizi, I El-Abbassi, M Eschete, J Crowe
INTRODUCTION: Gonorrhea is the 2nd most common sexually transmitted disease in the US with 800,000 cases of gonorrhea each year. Disseminated gonorrhea infection occurs in 0.5 percent - 3 percent of these patients and is more frequent in woman younger than 40 years of age. CASE: A 36 year old woman with a history of polysubstance abuse presented with 10 day history of feeling generally unwell. At presentation, vitals were remarkable for tachycardia and hypotension...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28406002/asymptomatic-presentation-of-large-cardiac-ball
#12
Pritesh A Pawar, Pradeep P Deshmukh, Mukund Deshpande, Anup A Pusate
A 45 years female presented with short duration of dry cough and atypical chest pain. Chest X ray showed cardiomegaly with a bulge at the right heart border and curvilinear calcification in left upper abdomen. Transthoracic echocardiography (TTE) revealed a cystic lesion in the right ventricle free wall causing compression of right atrial and ventricular cavity. Cardiac CT confirmed this cyst as hydatid cyst. Patient underwent successful excision of right ventricular hydatid cyst.
December 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28370380/clinical-characteristics-of-adult-dogs-more-than-5-years-of-age-at-presentation-for-patent-ductus-arteriosus
#13
B G Boutet, A B Saunders, S G Gordon
BACKGROUND: The median age at presentation for dogs with patent ductus arteriosus (PDA) is <6 months of age, and closure is associated with a decrease in heart size and increased survival time, which are not well described in older dogs. OBJECTIVES: To describe the clinical characteristics of dogs with PDA ≥5 years of age at the time of presentation to a veterinary referral hospital. ANIMALS: 35 client-owned dogs. METHODS: Retrospective case series...
May 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28364051/case-3-hypotonia-respiratory-distress-and-cardiomegaly-in-a-3-month-old-boy
#14
Michael E A Cunningham, Kristin M Burns
No abstract text is available yet for this article.
April 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28361594/an-unusual-hydrops-fetalis-associated-with-compound-heterozygosity-for-kr%C3%A3-ppel-like-factor-1-mutations
#15
Helena H L Lee, Annisa S L Mak, K O Kou, C F Poon, W S Wong, K H Chiu, Patrick K C Au, Kelvin Y K Chan, Anita S Y Kan, Mary H Y Tang, K Y Leung
Hydrops fetalis is commonly due to Hb Bart's (γ4) disease in South East Asia. Here, we report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. Fetal cardiomegaly was first detected on routine mid-trimester scan in a pregnant woman with normal mean corpuscular volume (MCV) and Rhesus positive status. The fetus subsequently developed hydrops fetalis, and cordocentesis showed severe fetal anemia with a hemoglobin (Hb) level of 3...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28295525/advantages-and-pitfalls-of-pocket-ultrasound-vs-daily-chest-radiography-in-the-coronary-care-unit-a-single-user-experience
#16
Colin T Phillips, Warren J Manning
BACKGROUND: Pocket ultrasonography may enhance patient diagnosis and care. We sought to assess pocket ultrasound in detecting common conditions in the coronary care unit (CCU) compared to portable daily chest radiography (CXR) and conventional transthoracic echocardiography (TTE). METHODS: An experienced pocket ultrasound user performed a pocket ultrasound examination for interstitial edema, pneumonia, central line seen in the right ventricle, pleural and pericardial effusions, left atrial enlargement, and cardiomegaly...
March 14, 2017: Echocardiography
https://www.readbyqxmd.com/read/28295118/an-unusual-case-of-aorta-right-atrial-tunnel-with-windsock-aneurysm-imaging-diagnosis-and-treatment
#17
Shehzaadi Aneesah Khan, Leonie Scholtz, F Adriaan Snyders, Johan de Villiers
The first successfully diagnosed and treated case of aorta-right atrial tunnel was reported by Coto et al. in 1980. The most common cause of aorta-right atrial tunnel is a ruptured aneurysm of the sinus of Valsalva. Sinus of Valsalva aneurysms had been reported as early as 1840 by Thurnam; these were diagnosed at autopsy. With the advances in radiology, many cases of aorta-right atrial tunnel have been reported since then, each with its own subtle variations. We report on a unique case of aorta-right atrial tunnel with a windsock aneurysm in the right atrium...
March 15, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28277912/fetal-hemoglobin-bart-s-hydrops-fetalis-pathophysiology-prenatal-diagnosis-and-possibility-of-intrauterine-treatment
#18
Phudit Jatavan, Nipon Chattipakorn, Theera Tongsong
This review aimed to comprehensively summarize current available reports regarding the ultrasound markers and biomarkers in predicting fetal Hb Bart's disease and evaluate the potential role of cardiac function assessment in a clinical practice. This review involves various methods in prenatal predicting fetal Hb Bart's disease or alpha-thalassemia major and attempts to provide valuable insights regarding the underlying mechanisms responsible for heart failure in Hb Bart's fetuses. Moreover, this information may be used to predict the cardiac function before the development of hydrops fetalis...
March 1, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28273502/ruptured-berry-aneurysm-with-minimal-subarachnoid-hemorrhage
#19
Tyler J Gardner, Joseph A Prahlow
Cerebral artery aneurysm rupture is usually associated with significant subarachnoid hemorrhage; however, there are rare cases where there is a lack of hemorrhage into the subarachnoid space. While subdural hemorrhage can occur with ruptured aneurysms, isolated subdural hemorrhage is more often associated with trauma. In this case, a 51-year-old obese woman, who recently visited an Urgent Care Center for elevated blood pressure, was found dead roughly a month later. She had been complaining of headaches, and received medication for her blood pressure at the visit...
April 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28260553/cor-triatriatum-sinister-with-an-intact-interatrial-septum-and-a-decompressing-vein-in-a-toddler
#20
Ziyad M Binsalamah, Luis E De León, Jeffrey S Heinle
Cor triatriatum sinister is a very rare cardiac anomaly that may lead to pulmonary hypertension, right ventricular dilation, and eventually right heart failure. We report a case of a toddler who presented with respiratory distress and cardiomegaly and was found to have cor triatriatum sinister with a restrictive communication, decompressing vertical vein, pulmonary hypertension, severe tricuspid regurgitation, and severe right ventricular dysfunction. She underwent a successful surgical repair, with normalisation of right ventricular function and pulmonary artery pressure...
March 6, 2017: Cardiology in the Young
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