Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction

Current Pharmaceutical Design
Josef FinstererGiovanni Fazio

Abstract

Left ventricular hypertrabeculation / noncompaction (LVHT) is in the majority of the cases associated with hereditary cardiac or skeletal muscle disease or with chromosomal abnormalities. Depending on the study more than two thirds of the LVHT patients also present with a neuromuscular disorder (NMD). NMDs most frequently associated with LVHT are the Barth syndrome, mitochondrial disorders, zaspopathy, and myotonic dystrophies. NMDs only occasionally presenting with LVHT are the dystrobrevinopathy, laminopathies, dystrophinopathies, myoadenylat-deaminase deficiency, hereditary inclusion body myositis and the hereditary neuropathy CMT1A. A causal relation between NMDs and LVHT is likely, although the exact relationship and pathomechanic association remains elusive. The close pathogenetic relation is supported by the fact that the phenomenon of acquired LVHT occurs predominantly in NMDs. Consequent referral of LVHT patients to the neurologist, consequent referral of NMD patients to the cardiologist, and family investigations may help and to elucidate unsolved issues concerning the pathogenesis, course and prognosis of LVHT.

Citations

Feb 16, 2013·Orphanet Journal of Rare Diseases·Lorenzo FerriAmelia Morrone
Nov 22, 2013·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·J Finsterer, S Zarrouk-Mahjoub
Dec 29, 2015·Neuromuscular Disorders : NMD·Jing WangQing Zhu
Feb 26, 2013·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Josef FinstererKarim Wahbi
Aug 28, 2012·Brain & Development·Josef Finsterer, Sinda Zarrouk Mahjoub
Aug 25, 2012·Brain & Development·Po-Cheng Hung
Jun 5, 2012·International Journal of Cardiology·Elisabeth PichlbauerJosef Finsterer
May 24, 2011·Neuromuscular Disorders : NMD·Josef Finsterer, Claudia Stöllberger
May 9, 2013·Muscle & Nerve·Claudia Stöllberger, Josef Finsterer
Jan 31, 2014·International Journal of Cardiology·Josef Finsterer, Claudia Stöllberger
Nov 15, 2011·International Journal of Cardiology·Josef Finsterer, Claudia Stöllberger
Apr 21, 2012·Heart & Lung : the Journal of Critical Care·Claudia StöllbergerJosef Finsterer
Jan 21, 2014·International Journal of Cardiology·Claudia StöllbergerJosef Finsterer
Mar 7, 2013·International Journal of Cardiology·Josef FinstererErnst Sehnal
Sep 16, 2017·European Journal of Preventive Cardiology·Josef Finsterer, Sonam Kothari
Jul 11, 2020·Current Cardiology Reports·Josef Finsterer, Claudia Stöllberger
Mar 15, 2021·Heart Failure Reviews·Sofie RohdeKadir Caliskan

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Heart & Lung : the Journal of Critical Care
Claudia StöllbergerJosef Finsterer
Neuromuscular Disorders : NMD
Wesley ThevathasanDavid Hilton-Jones
International Journal of Cardiology
Josef FinstererBart Janssen
Circulation Journal : Official Journal of the Japanese Circulation Society
Satoru IwashimaTakehiko Ohzeki
© 2021 Meta ULC. All rights reserved