Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations

Iacopo Olivotto; Giulia d'Amati; Cristina Basso; Albert Van Rossum; Monica Patten; Michele Emdin; Yigal Pinto; Benedetta Tomberli; Paolo G Camici; Michelle Michels

doi:10.1093/cvr/cvv024

Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations

Standard

Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations. / Olivotto, Iacopo; d'Amati, Giulia; Basso, Cristina; Van Rossum, Albert; Patten, Monica; Emdin, Michele; Pinto, Yigal; Tomberli, Benedetta; Camici, Paolo G; Michels, Michelle.

In: CARDIOVASC RES, Vol. 105, No. 4, 01.04.2015, p. 409-423.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

Olivotto, I, d'Amati, G, Basso, C, Van Rossum, A, Patten, M, Emdin, M, Pinto, Y, Tomberli, B, Camici, PG & Michels, M 2015, 'Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations', CARDIOVASC RES, vol. 105, no. 4, pp. 409-423. https://doi.org/10.1093/cvr/cvv024

APA

Olivotto, I., d'Amati, G., Basso, C., Van Rossum, A., Patten, M., Emdin, M., Pinto, Y., Tomberli, B., Camici, P. G., & Michels, M. (2015). Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations. CARDIOVASC RES, 105(4), 409-423. https://doi.org/10.1093/cvr/cvv024

Vancouver

Olivotto I, d'Amati G, Basso C, Van Rossum A, Patten M, Emdin M et al. Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations. CARDIOVASC RES. 2015 Apr 1;105(4):409-423. https://doi.org/10.1093/cvr/cvv024

Bibtex

@article{844928eafe1a487f9a72f5572ea69b46,

title = "Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations",

abstract = "Mutations in cardiac sarcomere protein genes are associated with a variety of clinical phenotypes, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathy as well as left ventricular non-compaction, with the overlap of morpho-functional manifestations in individual patients and families. Over time, initial phenotypes may undergo profound changes which determine clinical course and disease progression. Although genetic defects causing HCM and DCM have opposite effects at the myofilament level, a number of downstream maladaptive mechanisms, ranging from microvascular dysfunction and ischaemia to myocardial fibrosis and from diastolic dysfunction to abnormal sympathetic activation and arrhythmogenesis, seem to recur in sarcomeric cardiomyopathies, independent of the presenting phenotype. The extent and rate at which each of these features occur and evolve may be radically different in each form of cardiomyopathy, determining a clinical heterogeneity that is not only cross-sectional, but also longitudinal, i.e. time-related. Timely and sensitive detection of these long-term modifications in the clinical setting is a key to preventing advanced disease and identifying novel therapeutic targets. The present review evaluates the contribution of contemporary technology to pre-clinical diagnosis, characterization of phenotypes, and assessment of disease progression in sarcomere cardiomyopathies, including echocardiography, positron emission tomography, magnetic resonance, pathology, and circulating biomarkers.",

keywords = "Animals, Biopsy, Cardiomyopathies/diagnosis, Diagnostic Imaging/methods, Disease Progression, Electrocardiography, Genetic Markers, Genetic Predisposition to Disease, Humans, Mutation, Phenotype, Predictive Value of Tests, Prognosis, Sarcomeres/metabolism",

author = "Iacopo Olivotto and Giulia d'Amati and Cristina Basso and {Van Rossum}, Albert and Monica Patten and Michele Emdin and Yigal Pinto and Benedetta Tomberli and Camici, {Paolo G} and Michelle Michels",

year = "2015",

month = apr,

day = "1",

doi = "10.1093/cvr/cvv024",

language = "English",

volume = "105",

pages = "409--423",

journal = "CARDIOVASC RES",

issn = "0008-6363",

publisher = "Oxford University Press",

number = "4",

}

RIS

TY - JOUR

T1 - Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations

AU - Olivotto, Iacopo

AU - d'Amati, Giulia

AU - Basso, Cristina

AU - Van Rossum, Albert

AU - Patten, Monica

AU - Emdin, Michele

AU - Pinto, Yigal

AU - Tomberli, Benedetta

AU - Camici, Paolo G

AU - Michels, Michelle

PY - 2015/4/1

Y1 - 2015/4/1

N2 - Mutations in cardiac sarcomere protein genes are associated with a variety of clinical phenotypes, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathy as well as left ventricular non-compaction, with the overlap of morpho-functional manifestations in individual patients and families. Over time, initial phenotypes may undergo profound changes which determine clinical course and disease progression. Although genetic defects causing HCM and DCM have opposite effects at the myofilament level, a number of downstream maladaptive mechanisms, ranging from microvascular dysfunction and ischaemia to myocardial fibrosis and from diastolic dysfunction to abnormal sympathetic activation and arrhythmogenesis, seem to recur in sarcomeric cardiomyopathies, independent of the presenting phenotype. The extent and rate at which each of these features occur and evolve may be radically different in each form of cardiomyopathy, determining a clinical heterogeneity that is not only cross-sectional, but also longitudinal, i.e. time-related. Timely and sensitive detection of these long-term modifications in the clinical setting is a key to preventing advanced disease and identifying novel therapeutic targets. The present review evaluates the contribution of contemporary technology to pre-clinical diagnosis, characterization of phenotypes, and assessment of disease progression in sarcomere cardiomyopathies, including echocardiography, positron emission tomography, magnetic resonance, pathology, and circulating biomarkers.

AB - Mutations in cardiac sarcomere protein genes are associated with a variety of clinical phenotypes, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathy as well as left ventricular non-compaction, with the overlap of morpho-functional manifestations in individual patients and families. Over time, initial phenotypes may undergo profound changes which determine clinical course and disease progression. Although genetic defects causing HCM and DCM have opposite effects at the myofilament level, a number of downstream maladaptive mechanisms, ranging from microvascular dysfunction and ischaemia to myocardial fibrosis and from diastolic dysfunction to abnormal sympathetic activation and arrhythmogenesis, seem to recur in sarcomeric cardiomyopathies, independent of the presenting phenotype. The extent and rate at which each of these features occur and evolve may be radically different in each form of cardiomyopathy, determining a clinical heterogeneity that is not only cross-sectional, but also longitudinal, i.e. time-related. Timely and sensitive detection of these long-term modifications in the clinical setting is a key to preventing advanced disease and identifying novel therapeutic targets. The present review evaluates the contribution of contemporary technology to pre-clinical diagnosis, characterization of phenotypes, and assessment of disease progression in sarcomere cardiomyopathies, including echocardiography, positron emission tomography, magnetic resonance, pathology, and circulating biomarkers.

KW - Animals

KW - Biopsy

KW - Cardiomyopathies/diagnosis

KW - Diagnostic Imaging/methods

KW - Disease Progression

KW - Electrocardiography

KW - Genetic Markers

KW - Genetic Predisposition to Disease

KW - Humans

KW - Mutation

KW - Phenotype

KW - Predictive Value of Tests

KW - Prognosis

KW - Sarcomeres/metabolism

U2 - 10.1093/cvr/cvv024

DO - 10.1093/cvr/cvv024

M3 - SCORING: Review article

C2 - 25631583

VL - 105

SP - 409

EP - 423

JO - CARDIOVASC RES

JF - CARDIOVASC RES

SN - 0008-6363

IS - 4

ER -