TY - JOUR
T1 - The Trouble with Trabeculation
T2 - How Genetics Can Help to Unravel a Complex and Controversial Phenotype
AU - Walsh, Roddy
PY - 2023/12/1
Y1 - 2023/12/1
N2 - Excessive trabeculation of the cardiac left ventricular wall is a complex phenotypic substrate associated with various physiological and pathological processes. There has been considerable conjecture as to whether hypertrabeculation contributes to disease and whether left ventricular non-compaction (LVNC) cardiomyopathy is a distinct pathology. Building on recent insights into the genetic basis of LVNC cardiomyopathy, in particular three meta-analysis studies exploring genotype–phenotype associations using different methodologies, this review examines how genetic research can advance our understanding of trabeculation. Three groups of genes implicated in LVNC are described—those associated with other cardiomyopathies, other cardiac/syndromic conditions and putatively with isolated LVNC cardiomyopathy—demonstrating how these findings can inform the underlying pathologies in LVNC patients and aid differential diagnosis and management in clinical practice despite the limited utility suggested for LVNC genetic testing in recent guidelines. The outstanding questions and future research priorities for exploring the genetics of hypertrabeculation are discussed. Graphical Abstract: [Figure not available: see fulltext.].
AB - Excessive trabeculation of the cardiac left ventricular wall is a complex phenotypic substrate associated with various physiological and pathological processes. There has been considerable conjecture as to whether hypertrabeculation contributes to disease and whether left ventricular non-compaction (LVNC) cardiomyopathy is a distinct pathology. Building on recent insights into the genetic basis of LVNC cardiomyopathy, in particular three meta-analysis studies exploring genotype–phenotype associations using different methodologies, this review examines how genetic research can advance our understanding of trabeculation. Three groups of genes implicated in LVNC are described—those associated with other cardiomyopathies, other cardiac/syndromic conditions and putatively with isolated LVNC cardiomyopathy—demonstrating how these findings can inform the underlying pathologies in LVNC patients and aid differential diagnosis and management in clinical practice despite the limited utility suggested for LVNC genetic testing in recent guidelines. The outstanding questions and future research priorities for exploring the genetics of hypertrabeculation are discussed. Graphical Abstract: [Figure not available: see fulltext.].
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178405947&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/38019448
U2 - 10.1007/s12265-023-10459-6
DO - 10.1007/s12265-023-10459-6
M3 - Review article
C2 - 38019448
SN - 1937-5387
VL - 16
SP - 1310
EP - 1324
JO - Journal of cardiovascular translational research
JF - Journal of cardiovascular translational research
IS - 6
ER -