Results 271 to 280 of about 1,191,834 (353)

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios   +9 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

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

open access: yesAmerican 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   +2 more
wiley   +1 more source

Catheter Ablation of Frequent PVCs in Structural Heart Disease: Impact on Left Ventricular Function and Clinical Outcomes. [PDF]

open access: yesBiomedicines
Milaras N   +12 more
europepmc   +1 more source

Transient left ventricular function deterioration after patent ductus arteriosus closure: A case series. [PDF]

open access: yesSAGE Open Med Case Rep
Sabri MR   +6 more
europepmc   +1 more source

Association of Left Ventricular Function With Cerebral Small Vessel Disease in a Community-Based Population. [PDF]

open access: yesCNS Neurosci Ther
Yang Y   +13 more
europepmc   +1 more source

Sex-Specific Association of Left Ventricular Function With Mortality in Severe Mitral Regurgitation. [PDF]

open access: yesJAMA Netw Open
Kwak S   +8 more
europepmc   +1 more source

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