Left ventricular non-compaction cardiomyopathy

JA Towbin, A Lorts, JL Jefferies - The Lancet, 2015 - thelancet.com
Left ventricular non-compaction, the most recently classified form of cardiomyopathy, is
characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It …

Left ventricular noncompaction: a distinct genetic cardiomyopathy?

E Arbustini, V Favalli, N Narula, A Serio… - Journal of the American …, 2016 - jacc.org
Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized
by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep …

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman… - Heart rhythm, 2019 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

R Walsh, JA Offerhaus, R Tadros… - Nature Reviews …, 2022 - nature.com
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors

J Finsterer, C Stoellberger, JA Towbin - Nature Reviews Cardiology, 2017 - nature.com
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of
unknown aetiology, frequently associated with monogenic disorders, particularly …

Nonfamilial hypertrophic cardiomyopathy: prevalence, natural history, and clinical implications

J Ingles, C Burns, RD Bagnall, L Lam… - Circulation …, 2017 - Am Heart Assoc
Background—Yield of causative variants in hypertrophic cardiomyopathy (HCM) is
increased in some probands, suggesting different clinical subgroups of disease occur. We …

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

M Prondzynski, MD Lemoine, ATL Zech… - EMBO Molecular …, 2019 - embopress.org
Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural
and contractile alterations. We identified a rare c. 740C> T (p. T247M) mutation in ACTN 2 …

Novel genetic triggers and genotype–phenotype correlations in patients with left ventricular noncompaction

K Miszalski-Jamka, JL Jefferies, W Mazur… - Circulation …, 2017 - Am Heart Assoc
Background—Left ventricular noncompaction (LVNC) is a genetically and phenotypically
heterogeneous disease and, although increasingly recognized in clinical practice, there is a …

Concealed cardiomyopathy in autopsy-inconclusive cases of sudden cardiac death and implications for families

JC Isbister, N Nowak, L Yeates, ES Singer… - Journal of the American …, 2022 - jacc.org
Background Genetic testing following sudden cardiac death (SCD) is currently guided by
autopsy findings, despite the inherent challenges of autopsy examination and mounting …

Systematic review of genotype‐phenotype Correlations in Noncompaction Cardiomyopathy

JI van Waning, J Moesker, D Heijsman… - Journal of the …, 2019 - Am Heart Assoc
Background A genetic cause can be identified in 30% of noncompaction cardiomyopathy
patients (NCCM) with clinical features ranging from asymptomatic cardiomyopathy to heart …