Results 91 to 100 of about 276,376 (316)

Hypocalcemic cardiomyopathy

Revista Portuguesa de Cardiologia (English Edition), 2013
The association between hypocalcemia and heart failure is rare. There are few reported cases in the literature of this association, which is termed hypocalcemic cardiomyopathy. We report the case of a 61-year-old woman with no relevant medical history, admitted for progressively worsening exertional dyspnea, orthopnea and edema of the lower limbs for a
Patrício, Aguiar, Diogo, Cruz, Rita, Ferro Rodrigues, Lígia, Peixoto, Francisco, Araújo, José Luís, Ducla Soares   +5 more
openaire   +2 more sources

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa

, 2011
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have
Blanckenberg, Janine
core  

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

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, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

The clinical, electrocardiographic and echocardiographic features and long-term outcome of patients with Tachycardia-induced cardiomyopathy

, 2010
Includes abstract.Includes bibliographical references.Tachycardia-induced cardiomyopathy (TIC) is a reversible cause of LV systolic dysfunction that can complicate any supraventricular or ventricular tachyarrhythmia.
Chin, Ashley
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Explainable artificial intelligence identifies and localizes left ventricular scar in hypertrophic cardiomyopathy using 12-Lead electrocardiogram

Scientific Reports
Left ventricular (LV) scar is a major risk factor for sudden death and heart failure in hypertrophic cardiomyopathy (HCM). LV scar evolves over time and needs longitudinal assessment. Currently, LV scar detection relies on late gadolinium enhancement MRI,
Kasra Nezamabadi, Sanjay Sivalokanathan, Jiwon Lee, Talha Tanriverdi, Meiling Chen, Daiyin Lu, Jadyn Abraham, Neda Sardaripour, Pengyuan Li, Parvin Mousavi, M. Roselle Abraham   +10 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The cardiomyopathies [PDF]

Heart, 1994
W J, McKenna, A C, Beiras, M P, Lado
openaire   +2 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Advancements and Applications of Artificial Intelligence in Hypertrophic Cardiomyopathy: A Comprehensive Review

Reviews in Cardiovascular Medicine
Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disease and one of the leading causes of exercise-induced sudden cardiac death in adolescents.
Huanhuan Ma, Jing Li, Shengjun Ta, Liang Yu, Fangqi Ruan, Liwen Liu   +5 more
doaj   +1 more source