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cardiac workup

Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
Sophie Van Linthout, Carsten Tschöpe
PURPOSE OF REVIEW: Myocarditis is an inflammatory disease of the cardiac muscle mainly caused by viral infection. Due to the diverse clinical presentation of myocarditis, accurate diagnosis demands simultaneous histologic, immunohistochemical and molecular biological workup of endomyocardial biopsies (EMBs) as defined by the position statement of the Working Group on Myocardial and Pericardial Diseases of the European Society of Cardiology on myocarditis. RECENT FINDINGS: Endomyocardial biopsy-based analysis of viral transcriptional activity, mRNA expression, epigenetics and region-specific protein expression analysis via imaging mass spectrometry have led to the identification of novel potential diagnostic criteria, markers with prognostic value and therapeutic targets for the treatment of viral myocarditis, opening new avenues for novel therapies, including cell therapies, as well as the use of established treatment options, be it from other indications...
March 9, 2018: Current Opinion in Cardiology
Rachel Levene, Elza Pollak-Christian, Ashish Garg, Michael Keenaghan
Coarctation of the aorta (CoA) is a congenital cardiac malformation that is well understood. Despite being well characterized, CoA is a commonly missed congenital heart disease (CHD) during the newborn period. We report a full-term nine-day-old male who presented to the pediatric emergency department (ED) with isolated tachypnea. After an initial sepsis workup, subsequent investigations revealed critical CoA. Because the primary workup focused on sepsis, there was a significant delay in prostaglandin E1 (PGE1 ) initiation...
2018: Case Reports in Pediatrics
Tarun Raina Ramman, Nilanjan Dutta, Kuntal Roy Chowdhuri, Sunny Agrawal, Sumir Girotra, Sushil Azad, Sitaraman Radhakrishnan, Parvathi Unninayar Iyer, Krishna Subramony Iyer
Persistent left superior vena cava is a common congenital anomaly of the thoracic venous system. Left superior vena cava draining into left atrium is a malformation of sinus venosus and caval system. The anomaly may be a cause of unexplained hypoxia even in adults. It may give rise to various diagnostic and technical challenges during cardiac catheterization and open-heart surgery. It is often detected serendipitously during diagnostic workup. Isolated left superior vena cava opening into left atrium is very commonly associated with other congenital heart defects...
January 1, 2018: World Journal for Pediatric & Congenital Heart Surgery
Zulfiqar Qutrio Baloch, Muhammad Hussain, Shabber Agha Abbas, Jorge L Perez, Muhammad Ayyaz
The development of methamphetamine-associated cardiomyopathy (MACM) represents a severe complication of chronic methamphetamine abuse. MACM-induced irreversible structural and functional changes in the heart can eventually lead to decompensated heart failure, ultimately requiring heart transplantation. In this case report we present a 47-year old male with a previous history of chronic amphetamine abuse who presented to the emergency room with severe dyspnea at rest associated with mild substernal non-radiating chest pain...
2018: Emergency (Tehran, Iran)
Sahadev T Reddy, Ngoc L Thai, Jose Oliva, Kusum B Tom, Michael K Dishart, Mark Doyle, June A Yamrozik, Ronald B Williams, Moneal Shah, Adil Wani, Anil Singh, Rishi Maheswary, Robert W W Biederman
BACKGROUND: The preoperative workup of orthotopic liver transplantation (OLT) patents is practically complex given the need for multiple imaging modalities. We recently demonstrated in our Proof-of-Concept study the value of a One-Stop-Shop approach using Cardiovascular MRI (CMR) to address this complex problem. However, this approach requires further validation in a larger cohort, as detection of HCC as well as cardiovascular risk assessment is critically important in these patients...
March 2, 2018: Clinical Transplantation
Nicholas Isom, Aniket S Rali, Ivan Damjanov, Kevin Hubbard, Joel Grigsby, Kamal Gupta
BACKGROUND Cardiac involvement by a malignant tumor is rare. However, this is a case of right heart failure due to cardiac metastasis from a yolk sac tumor. Although a few case reports of cardiac metastasis from yolk sac tumors have been published, to our knowledge this is the first instance of multiple metastases to the right ventricular of yolk sac tumor in an adult male. CASE REPORT The patient is a 46-year-old male with a history of testicular cancer that presented with dyspnea on exertion. He was found to have two large right sided intracardiac masses on echocardiography...
March 2, 2018: American Journal of Case Reports
Robrecht J H Logjes, Maartje Haasnoot, Petra M A Lemmers, Mike F A Nicolaije, Marie-José H van den Boogaard, Aebele B Mink van der Molen, Corstiaan C Breugem
Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain greater insight into the mortality rate and identify risk factors associated with mortality in RS. We retrospectively reviewed all RS infants followed at the Wilhelmina Children's Hospital from 1995 to 2016. Outcome measurements were death and causes of death. The authors identified 103 consecutive RS infants with a median follow-up of 8.6 years (range 0...
February 28, 2018: European Journal of Pediatrics
Syed Rafay Ali Sabzwari, Zoltan Varga, Khurram Butt, Nimra Khan
Vasospastic angina (VSA), also known as variant or Prinzmetal's angina, is a relatively uncommon cause of retrosternal chest pain with transient ST segment elevation, mainly due to vasospasm in the coronary arteries. This is a case of 37-year-old female who presented with chest pain and syncope. Her initial workup, including echocardiogram, was negative. Subsequently, she was sent home with an event monitor. During the next two weeks, she continued to have recurrent episodes of similar chest pains and presented to her cardiology appointment with a heart rate of 45 bpm and blood pressure of 100/60 mmHg and was taken to hospital emergency department...
December 16, 2017: Curēus
Jonathan Chica, Isaac Yepes, S Shelby Burks, Ricardo Komotar, Roger Carrillo
Intracranial malignant peripheral nerve sheath tumors (MPNSTs) are an extremely rare entity with only a handful of cases reported in the literature. MPNSTs typically occur in the extremities and the trunk. The treatment algorithm includes, when possible, gross-total resection as these tumors are extremely aggressive. When these tumors occur intracranially, they are termed malignant intracerebral nerve sheath tumors. The diagnosis hinges on immunohistochemistry and pathological features and often the diagnosis can be delayed for this reason...
January 2018: Asian Journal of Neurosurgery
G Donatini, J L Kraimps, C Caillard, E Mirallie, F Pierre, Loïc De Calan, Hamy Antoine, O Larin, O Tovkay, S Cherenko
BACKGROUND: Pheochromocytoma (PHEO) in pregnancy is a life-threatening condition. Its management is challenging with regards to the timing and type of surgery. METHODS: A retrospective review of the management of ten patients diagnosed with pheochromocytoma during pregnancy was performed. Data were collected on the initial diagnostic workup, symptoms, treatment, and follow-up. RESULTS: PHEO was diagnosed in ten patients who were between the 10th and the 29th weeks of pregnancy...
February 27, 2018: Surgical Endoscopy
Ashraf Abugroun, Ramy Zughul, Mina Tawadrous, Margiori Rodriguez
Group G streptococcus has been increasingly reported as a cause of bacteremia and infective endocarditis. The association between various groups of streptococcus with malignancy has been well established. Such association is particularly observed in group D Streptococcus bovis which is commonly reported in association with carcinoma of the colon. We herein report a case of a 72-year-old male who presented with severe sepsis, iron deficiency anemia and newly diagnosed cardiac murmur. Further workup confirmed group G streptococcus bacteremia, infective endocarditis and newly diagnosed carcinoma of the colon...
February 2018: Cardiology Research
K M Eggers, T Jernberg, B Lindahl
BACKGROUND: Cardiac troponin (cTn) levels reflect infarct size and depressed left ventricular ejection fraction (LVEF) in patients with non-ST elevation acute coronary syndrome (NSTE-ACS). However, there is very limited information on whether cTn measured with a high-sensitivity (hs) assay would provide incremental prognostic information to the LVEF in NSTE-ACS patients. METHODS: This was a registry-based study (SWEDEHEART registry) investigating 20,652 NSTE-ACS patients with available information on hs-cTnT (highest level recorded during the hospitalization) and the LVEF estimated using echocardiography...
March 2018: American Heart Journal
Roberto Lorusso, Enrico Vizzardi, Daniel M Johnson, Giovanni Mariscalco, Edoardo Sciatti, Jos Maessen, Elham Bidar, Sandro Gelsomino
Candidate patients for cardiac surgery procedures with a history of malignancies and antitumour therapy or with an active cancer and on antineoplastic treatment are increasingly common in daily practice. Oncological therapy can lead to cardiovascular injury and, therefore, has the potential for impacting operative risks and surgical strategies. This means that a number of considerations are essential to take into account prior to cardiac surgery. These include the type of cancer, previous cardiotoxicity or concomitant antitumour therapy, reversibility or irreversibility of such complications, the interaction between cancer disease course and extracorporeal circulation, the need for associated surgery and the impact of cancer on early and long-term outcomes...
February 13, 2018: European Journal of Cardio-thoracic Surgery
Michael Mohseni, Theodore Szymanski
The differential diagnoses for patients presenting with chest discomfort after endoscopy remain broad. In addition to infectious, traumatic and bleeding complications, intrinsic cardiac pathology should be considered. Though rare, pericarditis and pericardial tamponade are additional entities that the clinician should consider when evaluating these patients. We present a 74-year-old man who arrived to the emergency department with substernal chest discomfort that began shortly after upper and lower endoscopy the previous day...
February 5, 2018: BMJ Case Reports
Andrew E Schneider, Bryan C Cannon, Jonathan N Johnson, Michael J Ackerman, Philip L Wackel
BACKGROUND: Left axis deviation (LAD) discovered in children via electrocardiogram (ECG) is uncommon but can be associated with heart disease (HD). The optimal diagnostic approach in a seemingly healthy child with LAD is unclear. We sought to better stratify which patients with LAD but without previously known HD may warrant additional workup. METHODS: A retrospective chart review was performed to identify patients ≥1 to <18 years of age with LAD (QRS frontal plane axis 0 to -90) on an ECG between January 2002 and December 2014...
February 1, 2018: Pediatrics
Yan Wang, Yoon Choi, Joshuae Gallardo, Ifeoma Nwaneri, James R Brorson
OBJECTIVE: We aimed to evaluate the yield of extensive etiologic workup in lacunar stroke patients. BACKGROUND: As lacunar strokes are infrequently caused by thromboembolism, the clinical relevance of extensive workup for thromboembolic sources is questioned. METHODS: Among consecutive stroke admissions to a single center over 3 years, the 100 cases initially classified as lacunar stroke and a sample of 100 cases classified as non-lacunar ischemic strokes were studied...
February 6, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Burke A Cunha, Bertamaria Dieguez, Alena Varantsova
Culture negative endocarditis (CNE) is a common concern in patients with fever, heart murmur, cardiac vegetation, and negative blood cultures. The diagnosis of CNE is not based only on negative blood cultures and a cardiac vegetation. The clinical definition of CNE is based on negative blood cultures plus the findings of culture positive infective endocarditis (IE), e.g., fever, cardiac vegetation, splenomegaly, peripheral manifestations. Because embolic splenic infarcts may occur with culture positive IE, some may assume that splenic infarcts are a sign of CNE...
February 7, 2018: European Journal of Clinical Microbiology & Infectious Diseases
Kyle P Lammlein, Jonathan M Stoddard, Francis G O'Connor
The most common cause of sudden cardiac death (SCD) in young athletes in the United States is "autopsy-negative sudden unexplained death." This makes it extremely difficult to screen for and diagnose predisposing cardiovascular conditions before athletic participation. The goal of the preparticipation physical examination is to detect risk factors for SCD, make risk-based decisions regarding the need for further workup, and ultimately recommend for or against participation. Current evidence recommends universal screening of young athletes using the 14-point American Heart Association preparticipation cardiovascular checklist...
March 2018: Primary Care
Rohan M Goswami, Rami N Khouzam
The interdependence between the heart and liver in maintaining hemodynamic stability during the perioperative period of either orthotopic heart (OHT) or liver (OLT) transplantation is important. The pre-transplant hemodynamic changes that occur in patients with end-stage liver disease (ESLD) can include decreased systemic vascular resistance, poor ventricular response to stress and increased cardiac output (CO). Concomitant pulmonary disorders are often present in ESLD. Portopulmonary hypertension (PoPHTN) is an important marker for increased mortality in liver transplant patients...
January 2018: Annals of Translational Medicine
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