Genetics of dilated cardiomyopathy: practical implications for heart failure management

AN Rosenbaum, KE Agre, NL Pereira - Nature Reviews Cardiology, 2020 - nature.com
Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

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 …

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

G Luxán, JC Casanova, B Martínez-Poveda… - Nature medicine, 2013 - nature.com
Left ventricular noncompaction (LVNC) causes prominent ventricular trabeculations and
reduces cardiac systolic function. The clinical presentation of LVNC ranges from …

Mitochondrial cardiomyopathies

AW El-Hattab, F Scaglia - Frontiers in Cardiovascular Medicine, 2016 - frontiersin.org
Mitochondria are found in all nucleated human cells and perform various essential functions,
including the generation of cellular energy. Mitochondria are under dual genome control …

[HTML][HTML] Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management

DE Meyers, HI Basha, MK Koenig - Texas Heart Institute Journal, 2013 - ncbi.nlm.nih.gov
Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop
consequent to mutations in nuclear or mitochondrial DNA. The prevalence of inherited …

Mitochondria as a drug target in ischemic heart disease and cardiomyopathy

AM Walters, GA Porter Jr, PS Brookes - Circulation research, 2012 - Am Heart Assoc
Ischemic heart disease is a significant cause of morbidity and mortality in Western society.
Although interventions, such as thrombolysis and percutaneous coronary intervention, have …

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

MGD Bates, JP Bourke, C Giordano… - European heart …, 2012 - academic.oup.com
Mitochondrial disease refers to a heterogenous group of genetic disorders that result from
dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA …

[HTML][HTML] Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era

P Teekakirikul, MA Kelly, HL Rehm… - The Journal of Molecular …, 2013 - Elsevier
Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …

Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry

JL Jefferies, JD Wilkinson, LA Sleeper, SD Colan… - Journal of cardiac …, 2015 - Elsevier
Background Left ventricular noncompaction (LVNC) is a distinct form of cardiomyopathy
characterized by hypertrabeculation of the left ventricle. The LVNC phenotype may occur in …

Genetic basis of left ventricular noncompaction

P Rojanasopondist, L Nesheiwat… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Left ventricular noncompaction (LVNC) is the third most common pediatric
cardiomyopathy characterized by a thinned myocardium and prominent trabeculations. Next …