Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper
Excessive trabeculation, often referred to as “noncompacted” myocardium, has been
described at all ages, from the fetus to the adult. Current evidence for myocardial …
described at all ages, from the fetus to the adult. Current evidence for myocardial …
The trouble with trabeculation: how genetics can help to unravel a complex and controversial phenotype
R Walsh - Journal of cardiovascular translational research, 2023 - Springer
Excessive trabeculation of the cardiac left ventricular wall is a complex phenotypic substrate
associated with various physiological and pathological processes. There has been …
associated with various physiological and pathological processes. There has been …
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
A Amor-Salamanca, A Santana Rodríguez… - Circulation: Genomic …, 2024 - Am Heart Assoc
BACKGROUND: Less than 40% of patients with dilated cardiomyopathy (DCM) have a
pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital …
pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital …
Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing
Importance Genetic testing can guide management of both cardiomyopathies and
arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown …
arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown …
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
Y Chang, J Wacker, J Ingles, I Macciocca… - Journal of Medical …, 2024 - jmg.bmj.com
TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects.
Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction …
Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction …
Application of next generation sequencing in cardiology: current and future precision medicine implications
E Papadopoulou, D Bouzarelou, G Tsaousis… - Frontiers in …, 2023 - frontiersin.org
Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic
loci involved. The application of advanced molecular tools, such as Next Generation …
loci involved. The application of advanced molecular tools, such as Next Generation …
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Discrete categorization of Mendelian disease genes into dominant and recessive models
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
Multidisciplinary approach in cardiomyopathies: From genetics to advanced imaging
F Santoro, E Vitale, I Ragnatela, R Cetera… - Heart Failure …, 2024 - Springer
Cardiomyopathies are myocardial diseases characterized by mechanical and electrical
dysfunction of the heart muscle which could lead to heart failure and life-threatening …
dysfunction of the heart muscle which could lead to heart failure and life-threatening …
[HTML][HTML] Left ventricular noncompaction: a disorder with genotypic and phenotypic heterogeneity—a narrative review
K Hirono, F Ichida - Cardiovascular Diagnosis and Therapy, 2022 - ncbi.nlm.nih.gov
Left ventricular noncompaction: a disorder with genotypic and phenotypic heterogeneity—a
narrative review - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI …
narrative review - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI …
[HTML][HTML] Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults: A Literature Review
J Llerena-Velastegui, S Velastegui-Zurita… - Current Problems in …, 2024 - Elsevier
In the realm of cardiovascular health, isolated left ventricular noncompaction (LVNC) stands
out for its distinct morphological features and the clinical challenges it presents, particularly …
out for its distinct morphological features and the clinical challenges it presents, particularly …