Results 231 to 240 of about 248,318 (303)

Impact of Contour Boundary Offsets on 4D Flow CMR-Derived Intracardiac Haemodynamic Parameters. [PDF]

J Cardiovasc Dev Dis
Gall A, Li R, Grafton-Clarke C, Mehmood Z, Thampi K, Noyes A, Hewson D, Underwood V, Girling R, Marlevi D, Swoboda PP, van der Geest RJ, Matthews G, Garg P.   +13 more
europepmc   +1 more source

Concomitant Discovery and Treatment of Acquired and Congenital Cardiac Disease

JACC: Case Reports
Shantelle Bartra, Houman Khalili, Thomas J. Forbes, Todd Roth, Peter Guyon, Brian A. Boe, Ashraf El-Dabh, Joshua Saef   +7 more
openaire   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Ferumoxytol-Enhanced Myocardial T1 Tracking Using a Hybrid 2D/3D Steady-State MRI Sequence Captures Cyclic Intramyocardial Blood Volume Dynamics. [PDF]

NMR Biomed
Unal HB, Zeynali S, Ahmed A, Anttila E, Mastouri R, Kreutz RP, Dharmakumar R, Gross DC, Sharif B.   +8 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Case Report: Filamin-C (<i>FLNC</i>) as a cause of disease in a large South African family diagnosed with restrictive cardiomyopathy. [PDF]

Front Med (Lausanne)
Ndibangwi P, Wagenaar K, Laing N, Cirota J, Spencer C, Ntusi N, Kraus S, Shaboodien G.   +7 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Quantitative native T1 mapping identifies papillary muscle and intracavitary cardiac lipomas: A multiparametric CMR case series. [PDF]

Radiol Case Rep
Montatore M, Rella M, Milo M, Masino F, Tupputi R, Fanigliulo G, Muscatella G, Testini V, Muscogiuri E, Guglielmi G.   +9 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source