Results 71 to 80 of about 48,328 (251)

Coronary computed tomography angiography of spontaneous coronary artery dissection: A case report and review of the literature [PDF]

, 2015
Patient: Male, 23 Final Diagnosis: Spontaneous coronary artery dissection Symptoms: Chest discomfort • chest pain Medication: — Clinical Procedure: Coronary computed tomography angiography Specialty: Radiology OBJECTIVE: Rare disease BACKGROUND ...
Bhalla, Sanjeev, Bolton, J. Scott, Maldonado, Jose, Torres-Ayala, Stephanie C.   +3 more
core   +2 more sources

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Vena cava anomalies in thoracic surgery [PDF]

, 2018
Background: Vena cava anomalies are a rare group of anatomical variations due to an incorrect development of the superior or inferior vena cava during fetal life.
Anile, Marco, Anzidei, Michele, Bassi, Massimiliano, Diso, Daniele, Mantovani, Sara, Pagini, Andreina, Poggi, Camilla, Venuta, Federico   +7 more
core   +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

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

An entire coronary system arising from right coronary cusp: a rare anomaly

Journal of Community Hospital Internal Medicine Perspectives, 2019
The prevalence of coronary artery anomalies is approximately 0.6% in individuals undergoing angiography. Most of the anomalies are benign, but some can lead to myocardial infarction, cardiomyopathy, and sudden cardiac death.
Muhammad Shabbir Rawala, Syed Imran Rizvi, Syed Bilal Rizvi   +2 more
doaj   +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

Duplicated RCA with Anomalous Origin of Left Circumflex Artery: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2018
Coronary artery anomalies are found in around 1-2% of patients undergoing coronary angiography. Uncovering of more coronary anomalies has increased with increase in awareness and easy availability of non invasive Computed Tomography Coronary Angiography (
Pawan Kumar Garg, Pushpinder Singh Khera, Swarnava Tarafdar, Binit Sureka, Surender Deora   +4 more
doaj   +1 more source

From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy

The Anatomical Record, EarlyView.
Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza, André Luiz Quagliatto Santos, Marcelo Abidu‐Figueiredo, Thaís Aparecida Silva, Rodrigo Ananias Barreiros Silva, Paulo de Souza‐Junior   +5 more
wiley   +1 more source

Arterial anatomy and arteriographic diagnosis of arteriogenic impotence [PDF]

, 1988
One hundred twenty-six bilateral selective arteriographic examinations of the iliopudendal vascular tree were performed after comprehensive multidisciplinary evaluation in patients with chronic erectile dysfunction.
Bähren, Wolfgang, Gall, Helmut, Scherb, Wolfgang, Stief, Christian Georg, Thon, Walter F.   +4 more
core   +1 more source