Multimodality Imaging of Danon Disease in a Patient with a Novel LAMP2 Mutation.
Ontology highlight
ABSTRACT:
SUBMITTER: McLeod JM
PROVIDER: S-EPMC6833129 | biostudies-other | 2019 Oct
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Myxomas are located in the left atrium in 75-80% of cases and almost always present with signs and symptoms of a thromboembolic event. Biatrial myxomas are rare, and their incidence is generally less than 2.5% of all myxomas. We herein present a case of biatrial myxomas as an incidental finding by echocardiography where the patient underwent surgery. Echocardiography continues to be the initial imaging modality for intracardiac masses. Cardiac magnetic resonance provides superior tissue characterization, particularly important in differentiating a myxoma from a thrombus. Appropriate use of these non-invasive imaging modalities may lead to a correct diagnosis and good outcome. <Learning objective: In this report we present a rare case of cardiac biatrial myxomas. Multimodality imaging, especially delayed enhancement cardiac magnetic resonance imaging, provided specific findings for the diagnosis.>.
| S-EPMC6281726 | biostudies-literature
Project description:The increasing number of survivors of congenital heart disease (CHD) has been paralleled by advancement of imaging modalities used for the ongoing assessment of these patients. There has been a large body of literature describing new approaches to non-invasive assessment of CHD. We will review new applications of well established as well as novel techniques for the management and understanding of CHD.
| S-EPMC4032470 | biostudies-literature
Project description:Abstract Carcinoid heart disease is a rare condition that occurs in less than half of patients with carcinoid syndrome. The disease mainly affects right‐sided heart valves; however, in 5%–10%, it can also involve left‐sided valves. This case illustrates the most complicated form of the disease involving four heart valves. The use of multimodality imaging in diagnosing and managing patients with systemic diseases involving the heart is of great importance and may improve the patients' survival and quality of life.
| S-EPMC9309634 | biostudies-literature
Project description: Not available
| S-EPMC10954569 | biostudies-literature
Project description:Cardiotoxicity represents a rising problem influencing prognosis and quality of life of chemotherapy-treated patients. Anthracyclines and trastuzumab are the drugs most commonly associated with development of a cardiotoxic effect. Heart failure, myocardial ischemia, hypertension, myocarditis, and thrombosis are typical manifestation of cardiotoxicity by chemotherapeutic agents. Diagnosis and monitoring of cardiac side-effects of cancer treatment is of paramount importance. Echocardiography and nuclear medicine methods are widely used in clinical practice and left ventricular ejection fraction is the most important parameter to asses myocardial damage secondary to chemotherapy. However, left ventricular ejection decrease is a delayed phenomenon, occurring after a long stage of silent myocardial damage that classic imaging methods are not able to detect. New imaging techniques including three-dimensional echocardiography, speckle tracking echocardiography, and cardiac magnetic resonance have demonstrated high sensitivity in detecting the earliest alteration of left ventricular function associated with future development of chemotherapy-induced cardiomyopathy. Early diagnosis of cardiac involvement in cancer patients can allow for timely and adequate treatment management and the introduction of cardioprotective strategies.
| S-EPMC4537747 | biostudies-literature
Project description:Background:Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities. Case presentation:We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Molecular test revealed a novel heterozygous mutation in exon 21 of the ATP7A gene. The genotype and phenotype of the patient were compared with those of the patients reported in the literature. Conclusion:We propose that this mutation caused a dysfunctional protein resulting in classical Menkes disease. This case adds to the spectrum of pathogenic variants of the ATP7A gene known to cause disease.
| S-EPMC6254535 | biostudies-literature
Project description:Transcatheter closure of patent foramen ovale (PFO) and secundum type atrial septal defect (ASD) are common transcatheter procedures. Although they share many technical details, these procedures are targeting two different clinical indications. PFO closure is usually considered to prevent recurrent embolic stroke/systemic arterial embolization, ASD closure is indicated in patients with large left-to-right shunt, right ventricular volume overload, and normal pulmonary vascular resistance. Multimodality imaging plays a key role for patient selection, periprocedural monitoring, and follow-up surveillance. In addition to routine cardiovascular examinations, advanced neuroimaging studies, transcranial-Doppler, and interventional transesophageal echocardiography/intracardiac echocardiography are now increasingly used to deliver safely and effectively such procedures. Long-standing collaboration between interventional cardiologist, neuroradiologist, and cardiac imager is essential and it requires a standardized approach to image acquisition and interpretation. Periprocedural monitoring should be performed by experienced operators with deep understanding of technical details of transcatheter intervention. This review summarizes the specific role of different imaging modalities for PFO and ASD transcatheter closure, describing important pre-procedural and intra-procedural details and providing examples of procedural pitfall and complications.
| S-EPMC8306204 | biostudies-literature
Project description:Although obesity is typically defined by body mass index criteria, this does not differentiate true body fatness, as this includes both body fat and muscle. Therefore, other fat depots may better define cardiometabolic and cardiovascular disease (CVD) risk imposed by obesity. Data from translational, epidemiological, and clinical studies over the past 3 decades have clearly demonstrated that accumulation of adiposity in the abdominal viscera and within tissue depots lacking physiological adipose tissue storage capacity (termed "ectopic fat") is strongly associated with the development of a clinical syndrome characterized by atherogenic dyslipidemia, hyperinsulinemia/glucose intolerance/type 2 diabetes mellitus, hypertension, atherosclerosis, and abnormal cardiac remodeling and heart failure. This state-of-the-art paper discusses the impact of various body fat depots on cardiometabolic parameters and CVD risk. Specifically, it reviews novel and emerging imaging techniques to evaluate adiposity and the risk of cardiometabolic diseases and CVD.
| S-EPMC7554055 | biostudies-literature
Project description:Abernethy malformation, or congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Despite its rarity, it is increasingly being reported, and therefore, it is important to diagnose given the potential adverse clinical consequences if left untreated. It has a spectrum of presentations, ranging from complete lack of symptoms, to causing hepatic carcinoma, hepatic encephalopathy, severe pulmonary hypertension, and diffuse pulmonary arteriovenous malformation. We herein describe the case and echocardiographic, computed tomography, and magnetic resonance imaging findings of a transgender individual, with this anomaly detected incidentally during adulthood.
| S-EPMC9304201 | biostudies-literature
Project description:Purpose: Carotid web (CaW) is an underrecognized cause of cryptogenic stroke in young patients. The optimal imaging for CaW is unknown. We aim to evaluate the diagnostic accuracy of diverse imaging modalities for the diagnosis of CaW. Methods: Retrospective analysis of institutional neurovascular database was performed to identify patients with multimodal (CT angiogram-CTA, digital subtraction angiogram-DSA, and/or ultrasound-US) imaging diagnosis of CaW or atherosclerosis. Baseline clinical demographics were recorded. Blinded image analysis was performed for each imaging modality by separate readers. Discrepancies were settled by consensus. Two-sided Cohen's Kappa (κ) coefficient was used to evaluate the inter-rater agreement for the etiological diagnosis between imaging modalities. Results: Thirty patients/60 carotids were evaluated by CTA and 55 carotids were included. Patients with symptomatic CaW (n = 20), compared to individuals with atherosclerosis (n = 10), were younger (49 ± 9 vs. 60 ± 8 years; p < 0.01), more commonly female (75% vs. 30%; p = 0.01), and less frequently presented vascular risk factors: Hypertension (40% vs. 100%; p < 0.01), hyperlipidemia (0% vs. 50%; p < 0.01), diabetes (10% vs. 40%; p = 0.05), and smoking (5% vs. 70%; p < 0.01). High inter-rater correlation strength existed for CTA (n = 55; κ = 0.88; p < 0.0001) and DSA (n = 28; κ = 0.86, p < 0.0001) readers for lesion diagnosis while US inter-rater agreement was lower (κ = 0.553; p = 0.001). Across modalities CTA and DSA shared very high strength of agreement (κ = 0.92; p < 0.0001), compared to a less pronounced agreement between US and CTA (κ = 0.553; p = 0.001). The strength of correlation between DSA-CTA was significantly more robust as compared to US-CTA (Z = 3.58; p = 0.0003). Conclusion: CTA and DSA demonstrated comparable and superior performance as compared to US in the diagnosis of CaW.
| S-EPMC6423072 | biostudies-literature