Author Correction: Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

Vikhorev, Petr G.; Smoktunowicz, Natalia; Munster, Alex B.; Copeland, O'Neal; Kostin, Sawa; Montgiraud, Cécile; Messer, Andrew E.; Toliat, Mohammad Reza; Li, Amy; Remedios, Cristobal G. dos; Lal, Sean; Blair, Cheavar A.; Campbell, Kenneth S.; Guglin, Maya; Richter, Manfred; Knöll, Ralph; Marston, Steven B.

doi:10.1038/s41598-018-32408-z

Cited by 2 publications

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“…Dilated Cardiomyopathy (DCM) is a common disorder with an estimated prevalence of 5–7 cases per 100,000 population [ 195 ]. Point mutations contribute to 25–50% of all DCM cases [ 196 ], and among these, mutations in the titin gene ( TTN) are the most common with mutations in other sarcomere genes, including MYH7, MYBPC3, TNNT2 , and TPM1 being less common and affect different residues than mutations that cause HCM. DCM is characterized by reduced contractility, i.e., systolic dysfunction.…”

Section: X-ray Diffraction Studies Of Muscle Diseasementioning

confidence: 99%

Small Angle X-ray Diffraction as a Tool for Structural Characterization of Muscle Disease

Irving

2022

IJMS

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Small angle X-ray fiber diffraction is the method of choice for obtaining molecular level structural information from striated muscle fibers under hydrated physiological conditions. For many decades this technique had been used primarily for investigating basic biophysical questions regarding muscle contraction and regulation and its use confined to a relatively small group of expert practitioners. Over the last 20 years, however, X-ray diffraction has emerged as an important tool for investigating the structural consequences of cardiac and skeletal myopathies. In this review we show how simple and straightforward measurements, accessible to non-experts, can be used to extract biophysical parameters that can help explain and characterize the physiology and pathology of a given experimental system. We provide a comprehensive guide to the range of the kinds of measurements that can be made and illustrate how they have been used to provide insights into the structural basis of pathology in a comprehensive review of the literature. We also show how these kinds of measurements can inform current controversies and indicate some future directions.

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Section: X-ray Diffraction Studies Of Muscle Diseasementioning

confidence: 99%

Small Angle X-ray Diffraction as a Tool for Structural Characterization of Muscle Disease

Irving

2022

IJMS

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Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy

Karner,

Keller,

Schäffl-Doweik

et al. 2023

Obstet Med

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Peripartum cardiomyopathy is defined as heart failure secondary to left ventricular (LV) dysfunction with a left ventricular ejection fraction <45% occurring towards the end of pregnancy or in the months following delivery without other identifiable cause. Pathogenesis of peripartum cardiomyopathy and the role of genetic variants are unknown. We present a previously healthy 33-year-old woman in her first pregnancy with acute onset of heart failure postpartum. She developed cardiogenic shock four days after caesarean section and was treated with levosimendan, cabergoline, ramipril and bisoprolol. She used a wearable cardioverter/defibrillator for 3 months. After 8 months, she was free of symptoms with normal left ventricular function and brain-natriuretic-peptide-levels. Genetic analysis was carried out due to a positive family history and disclosed a heterozygous variant c7627dupA in the TTN gene. Genetic analysis in patients with a positive family history should be carried out since that may provide insights in the pathogenesis of heart failure due to systolic dysfunction including peripartum cardiomyopathy.

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Author Correction: Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

Abstract: A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.

Cited by 2 publications

References 0 publications

Small Angle X-ray Diffraction as a Tool for Structural Characterization of Muscle Disease

Small Angle X-ray Diffraction as a Tool for Structural Characterization of Muscle Disease

Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy

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