Results 101 to 110 of about 4,510 (231)

Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

Clinical Case Reports, Volume 12, Issue 2, February 2024.
Clinical impact of pharmacotherapy in phenotypic HoFH with large‐scale CNVs deletion in heterozygotes. Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment ...
Ryosuke Tani, Keiji Matsunaga, Yuta Toda, Tomoko Inoue, Hai Ying Fu, Tetsuo Minamino   +5 more
wiley   +1 more source

Cardiac outcomes in adults with supravalvar aortic stenosis [PDF]

, 2017
Aims Supravalvar aortic stenosis is a rare form of left ventricular outflow tract obstruction that is often progressive in childhood. Little data are available on outcomes in the adult population.
Beauchesne, Luc, Deanfield, John E., Golovatyuk, Vasilisa, Greutmann, Matthias, Hoffmann, Andreas, Kaemmerer, Harald, Mebus, Siegrun, Oechslin, Erwin N., Salehian, Omid, Schuler, Pia K., Sharma, Nakul Chander, Silversides, Candice K., Tobler, Daniel, Vonder Muhll, Isabelle   +13 more
core  

Cellular and clinical impact of Haploinsufficiency for genes involved in ATR signaling [PDF]

, 2007
Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay.
Abraham, Alderton, Alderton, Amenta, Bakhshi, Cardoso, Cardoso, Carr, Chen, Cortez, Cox, Crisponi, De Baere, de Ru, Dierov, Ellison, Fang, Fernandez-Capetillo, Girard, Johanna M. van Hagen, Johnson, Kim, Leventer, Lewis, Liu, Liu, Lupski, Mark O’Driscoll, Noskov, O’Driscoll, O’Driscoll, O’Driscoll, Page, Penny A. Jeggo, Petermann, Redon, Rogers, Seckel, Semmekrot, Shaw-Smith, Sheen, Shiloh, Shizuyo, Stiff, Tassabehji, Tassabehji, Thornburg, Toyo-oka, Wang, William B. Dobyns, Wu, Yao, Yingling, Zachos, Zou, Zou, Zou   +56 more
core   +3 more sources

Utility of Pulmonary Angiography by 128‐Slice Computed Tomographic Scanner in Diagnosis of Tetralogy of Fallot Cases

Case Reports in Radiology, Volume 2024, Issue 1, 2024.
Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. It has four classical features (ventricular septal defect, overriding of aorta, hypertrophy of right ventricular hypertrophy, and right ventricular outflow tract obstruction), but the clinical ...
Abhishek Dwivedi, Ankur Sharma, Rachit Sharma, Prateek Awasthi, Satveer Singh Choudhary, Daniel P. Link   +5 more
wiley   +1 more source

Case report of sudden death in a child with Williams syndrome following administration of anaesthesia [PDF]

, 2015
Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a
Dippenaar, JM, du Toit-Prinsloo, L, Honey, EM   +2 more
core   +1 more source

Surgical intervention for anomalous origin of the left coronary artery from the pulmonary artery: The Tokyo experience [PDF]

, 2001
Background: Few studies after surgical repair of the anomalous origin of the left coronary artery have reported the importance of the mitral annuloplasty or the long-term results.
Aoki, Mitsuru, Imai, Yasuharu, Isomatsu, Yukihisa, Iwata, Yusuke, Shin'oka, Toshiharu   +4 more
core   +1 more source

Echocardiographic features of supravalvular aortic stenosis. [PDF]

Circulation, 1975
A method for the echocardiographic detection of supravalvular aortic stenosis (SVAS) is described and the findings in a series of patients are presented. When compared to angiography, the echo tended to underestimate the severity of the supravalvular aortic obstruction.
Richard L. Popp, James L. Bolen, James W. French   +2 more
openaire   +3 more sources

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Human Mutation, Volume 2024, Issue 1, 2024.
Recent advancements in the next‐generation sequencing have illuminated the occurrence of multiple genetic diagnoses (MGD). While exome sequencing has provided insights, genome sequencing (GS), the most comprehensive diagnostic tool, remains underexplored for studying MGD prevalence.
Fen Guo, Ruby Liu, Yinghong Pan, Mary Colasanto, Christin Collins, Madhuri Hegde, Stuart Scott   +6 more
wiley   +1 more source

Cleft anterior mitral leaflet with supravalvular aortic stenosis a rare association

Heart Views, 2015
A 20 year old female was referred to us for evaluation of effort dyspnoea of NYHA class II with feeble left common carotid, left brachial and left radial artery as compared to other sides.
Premratan, Akshyaya Pradhan, Rajiv Bharat Kharwar, Rishi Sethi, Varun Shankar Narain   +4 more
doaj   +1 more source

Detecting Heart Disease from Multi-View Ultrasound Images via Supervised Attention Multiple Instance Learning [PDF]

MLHC 2023, 2023
Aortic stenosis (AS) is a degenerative valve condition that causes substantial morbidity and mortality. This condition is under-diagnosed and under-treated. In clinical practice, AS is diagnosed with expert review of transthoracic echocardiography, which produces dozens of ultrasound images of the heart.
arxiv