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Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

ABSTRACT: Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we report a genome-wide association study of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 36,041 UK Biobank participants, with replication in 2184 participants from the Multi-Ethnic Study of Atherosclerosis. We identify 45 previously unreported loci associated with cardiac structure and function, many near well-established genes for Mendelian cardiomyopathies. A polygenic score of MRI-derived left ventricular end systolic volume strongly associates with incident DCM in the general population. Even among carriers of TTN truncating mutations, this polygenic score influences the size and function of the human heart. These results further implicate common genetic polymorphisms in the pathogenesis of DCM.

SUBMITTER: Pirruccello JP

PROVIDER: S-EPMC7206184 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Pirruccello James P JP Bick Alexander A Wang Minxian M Chaffin Mark M Friedman Samuel S Yao Jie J Guo Xiuqing X Venkatesh Bharath Ambale BA Taylor Kent D KD Post Wendy S WS Rich Stephen S Lima Joao A C JAC Rotter Jerome I JI Philippakis Anthony A Lubitz Steven A SA Ellinor Patrick T PT Khera Amit V AV Kathiresan Sekar S Aragam Krishna G KG

Nature communications 20200507 1

Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we report a genome-wide association study of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 36,041 UK Biobank participants, with replication in ...[more]

PMID: 32382064

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Project description:Heart failure (HF) is recognized as a leading cause of morbidity and mortality worldwide. Dilated cardiomyopathy (DCM) is a common phenotype in patients presenting with HF. Timely diagnosis, appropriate identification of the underlying cause, individualized risk stratification, and prediction of clinical response to treatment have improved the prognosis of DCM over the last few decades. In this article, we reviewed the current evidence on available imaging techniques used for DCM patients. In this direction, we evaluated appropriate scenarios for the implementation of echocardiography, nuclear imaging, and cardiac computed tomography, and we focused on the primordial role that cardiac magnetic resonance (CMR) holds in the diagnosis, prognosis, and tailoring of therapeutic options in this population of special clinical interest. We explored the predictive value of CMR toward left ventricular reverse remodeling and prediction of sudden cardiac death, thus guiding the decisions for device therapy. Principles underpinning the use of state-of-the-art CMR techniques such as parametric mapping and feature-tracking strain analysis are also provided, along with expectations for the anticipated future advances in this field. We also attempted to correlate the evidence with clinical practice, with the intent to address questions on selecting the optimal imaging method for different indications and clinical needs. Overall, we recommend a comprehensive assessment of DCM patients at baseline and at follow-up intervals depending on the clinical status, with the addition of CMR as a second-line modality to other imaging techniques. We also provide an algorithm to guide the detailed imaging approach of the patient with DCM. We expect that future guidelines will upgrade their clinical recommendations for the utilization of CMR in DCM, which is expected to further improve the quality of care and the outcomes. This review provides an up-to-date perspective on the imaging of dilated cardiomyopathy patients and will be of clinical value to training doctors and physicians involved in the area of heart failure.

Dataset Information

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Publications

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

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