Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper

SE Petersen, B Jensen, N Aung, MG Friedrich… - Cardiovascular …, 2023 - jacc.org
Excessive trabeculation, often referred to as “noncompacted” myocardium, has been
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 …

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 …

Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing

LM Dellefave-Castillo, AL Cirino, TE Callis… - JAMA …, 2022 - jamanetwork.com
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 …

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 …

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 …

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

A Lipov, SJ Jurgens, F Mazzarotto, M Allouba… - Nature cardiovascular …, 2023 - nature.com
Discrete categorization of Mendelian disease genes into dominant and recessive models
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 …

[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 …

[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 …