Results 81 to 90 of about 347,198 (324)
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 +9 more
wiley +1 more source
Indian Journal of Anaesthesia, 2007 Restrictive cardiomyopathy is a rare heart muscle disease resulting in impaired ventricular filling, low cardiac output and a propensity for development of heart failure with minimal fluid overload.
Gaurab Maitra +3 more
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.
Circulation Genomic and Precision Medicine, 2019 Circ Genom Precis Med. 2019;12:e002388. DOI: 10.1161/CIRCGEN.118.002388 March 2019 Alvaro Roldán-Sevilla, MD Julian Palomino-Doza, MD, PhD Javier de Juan, MD Violeta Sánchez, MD Cristina DomínguezGonzález, MD Rafael Salguero-Bodes, MD Fernando ...
Álvaro Roldan-Sevilla +6 more
semanticscholar +1 more source
Journal of Thoracic and Cardiovascular Surgery, 2019 OBJECTIVE To examine factors possibly involved in the resolution or persistence of restrictive filling pattern (RFP) after surgical ventricular restoration (SVR) in a series of patients with ischemic cardiomyopathy (ICM) and RFP.
F. Fantini +4 more
semanticscholar +1 more source
, 1989 Doppler ultrasound recordings of mitral, tricuspid, aortic, and pulmonary flow velocities, and their variation with respiration, were recorded in 12 patients with a restrictive cardiomyopathy and seven patients with constrictive pericarditis.
R L Popp, L K Hatle, C P Appleton
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern
, 2012 Kazunori Otsui, Nobutaka Inoue, Anna Tamagawa, Kazuo OnishiDepartment of Cardiovascular Medicine, Kobe Rosai Hospital, Kobe, JapanAbstract: A 61-year-old diabetic woman with a mitochondrial A3243G mutation was hospitalized for evaluation of ...
Inoue N, Tamagawa A +2 more
core
Constrictive pericarditis and restrictive cardiomyopathy in the modern era
, 2011 The differentiation between constrictive pericarditis and restrictive cardiomyopathy can be clinically challenging. Pericardial constriction results from scarring and consequent loss of pericardial elasticity leading to impaired ventricular filling ...
Serageldin F Raslan +4 more
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source