Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

Genetics of hypertrophic cardiomyopathy: A review of current state

M Sabater‐Molina, I Pérez‐Sánchez… - Clinical …, 2018 - Wiley Online Library
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease.
HCM is a highly complex and heterogeneous disease regarding not only the number of …

The giant protein titin's role in cardiomyopathy: genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease

CA Tharp, ME Haywood, O Sbaizero… - Frontiers in …, 2019 - frontiersin.org
Dilated cardiomyopathy (DCM) is a leading cause of heart failure, sudden cardiac death and
heart transplant. DCM is inherited in approximately 50% of cases, in which the most frequent …

Clinical phenotypes of heart failure with preserved ejection fraction to select preclinical animal models

WB van Ham, EL Kessler, MIFJ Oerlemans… - Basic to Translational …, 2022 - jacc.org
At least one-half of the growing heart failure population consists of heart failure with
preserved ejection fraction (HFpEF). The limited therapeutic options, the complexity of the …

Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy

AM Tabish, V Azzimato, A Alexiadis, B Buyandelger… - Biophysical …, 2017 - Springer
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump
enough blood to meet the body's metabolic demands. Major causes of HF are …

A-band titin truncation in zebrafish causes dilated cardiomyopathy and hemodynamic stress intolerance

IG Huttner, LW Wang, CF Santiago… - Circulation: Genomic …, 2018 - Am Heart Assoc
Background Truncating variants in the TTN gene (TTN tv) are common in patients with
dilated cardiomyopathy (DCM) but also occur in the general population. Whether TTN tv are …

Modifications of titin contribute to the progression of cardiomyopathy and represent a therapeutic target for treatment of heart failure

C Tharp, L Mestroni, M Taylor - Journal of Clinical Medicine, 2020 - mdpi.com
Titin is the largest human protein and an essential component of the cardiac sarcomere.
With multiple immunoglobulin (Ig)-like domains that serve as molecular springs, titin …

Inhibition of miR-208b improves cardiac function in titin-based dilated cardiomyopathy

Q Zhou, S Schötterl, D Backes, E Brunner… - International journal of …, 2017 - Elsevier
Background Dilated cardiomyopathy (DCM) is the result of maladaptive cardiac remodeling,
which involves microRNA regulation. In turn, microRNAs can contribute to the remodeling …

Targeted HFpEF therapy based on matchmaking of human and animal models

A Barandiarán Aizpurua, B Schroen… - American Journal …, 2018 - journals.physiology.org
The diversity in clinical phenotypes and poor understanding of the underlying
pathophysiology of heart failure with preserved ejection fraction (HFpEF) is the main reason …

Titin-truncating mutations in dilated cardiomyopathy: the long and short of it

D Fatkin, IG Huttner - Current opinion in cardiology, 2017 - journals.lww.com
Not all TTNtv are equal, and variants in constitutively expressed exons have the greatest
likelihood of pathogenicity. The clinical significance of high-impact TTNtv is likely to differ …