Cardiogenetics

644 KiB

Open AccessReview

by Daniele Masarone, Valeria Maddaloni, Marta Rubino, Fiorella Fratta, Annapaola Cirillo, Ludovica Spinelli Barrile, Roberta Pacileo, Adelaide Fusco, Guido Coppola, Francesca Pisacane, Paolo Calabrò, Raffaele Calabrò, Edoardo Bossone, Maria Giovanna Russo and Giuseppe Pacileo

Cardiogenetics 2016, 6(1), 5973; https://doi.org/10.4081/cardiogenetics.2016.5973 - 20 Jan 2017

Viewed by 659

Abstract

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. Postulated mechanisms include catecholamine excess, coronary artery spasm, and microvascular dysfunction, however catecholamines seem to play a central role in the pathophysiology of TTS. In facts catecholamines have relevant [...] Read more.

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. Postulated mechanisms include catecholamine excess, coronary artery spasm, and microvascular dysfunction, however catecholamines seem to play a central role in the pathophysiology of TTS. In facts catecholamines have relevant effects on the vasculature and myocardium. Toxic direct effects of catecholamine on myocardium are mediated by multiple pathway including functional hypoxia, metabolic changes and changes in membrane permeability leading to various electrolytic imbalances. Recently report of familial cases has suggested a genetic component. Further research is required to help clarify the proposed hypotheses and to increase our understanding of the cardiovascular responses to acute stress and the pathophysiology underpinning TTS. Full article

718 KiB

Open AccessReview

Measurement of Troponin in Cardiomyopathies

by Andrew Connelly, Iain N. Findlay and Caroline J. Coats

Cardiogenetics 2016, 6(1), 6306; https://doi.org/10.4081/cardiogenetics.2016.6306 - 22 Dec 2016

Cited by 2 | Viewed by 843

Abstract

Troponins are thin myofilament proteins that regulate the contraction of cardiac and skeletal muscle. The cardio-specific troponin I (TnI) and T (TnT) proteins are sensitive and specific biomarkers of myocardial injury which over the past twenty years have revolutionised the diagnosis and management [...] Read more.

Troponins are thin myofilament proteins that regulate the contraction of cardiac and skeletal muscle. The cardio-specific troponin I (TnI) and T (TnT) proteins are sensitive and specific biomarkers of myocardial injury which over the past twenty years have revolutionised the diagnosis and management of myocardial infarction. With the advent of high sensitivity assays the role for cardiac troponins is possibly expanding. Elevated levels are associated with adverse cardiovascular events and mortality in heart failure and the general population. Studies in cardiomyopathies are generally small with <200 patients, but serum troponin levels can be chronically raised and detect subclinical myocyte damage. This review examines all major published studies of cardiac troponin measurement in cardiomyopathies. There is considerable variability among studies regarding assays used and definitions of abnormal results but elevated troponin levels are almost invariably related to poor prognosis and their negative predictive value is important. Full article

812 KiB

Open AccessReview

Reversible Dilated Cardiomyopathy: Into the Thaumaturgy of the Heart - Part 2

by Giovanni Quarta, Raffaele Coppini, Pier Lambiase, Pablo Garcia-Pavia, Alice Calabrese, Anna Iorio, Niccolò Maurizi, Maria Iascone, Antonello Gavazzi, Iacopo Olivotto and Michele Senni

Cardiogenetics 2016, 6(1), 5862; https://doi.org/10.4081/cardiogenetics.2016.5862 - 10 Oct 2016

Viewed by 947

Abstract

Dilated cardiomyopathy (DCM) is a genetic or acquired heart muscle disorder characterized by dilation and impaired contraction of one or both ventricles. In the acquired forms of the disease, if the pathogenic agent is persistent, undiagnosed or untreated, permanent ultrastructural and morphological changes [...] Read more.

Dilated cardiomyopathy (DCM) is a genetic or acquired heart muscle disorder characterized by dilation and impaired contraction of one or both ventricles. In the acquired forms of the disease, if the pathogenic agent is persistent, undiagnosed or untreated, permanent ultrastructural and morphological changes may lead to irreversible dysfunction. Conversely, when DCM is promptly recognized and treated, the heart may show an extraordinary ability to recover from left ventricular (LV) systolic dysfunction. While much research in heart failure has focused on morbidity and mortality associated with persistent LV systolic dysfunction, relatively little attention has been devoted to this remarkable potential for recovery. In this two-part review we will focus on the most common types of reversible DCM. The second part will deal with chemotherapy-induced cardiomyopathy, alcohol- related cardiomyopathy, myocarditis and peripartum cardiomyopathy. Although diverse in etiopathogenesis, genetic background, therapeutic options and outcome, the forms of DCM characterized by reversible LV dysfunction share similar challenges in diagnosis and clinical management. The identification of pathways to recovery may show the way for novel therapeutic targets ultimately benefitting all cardiac patients. Full article

789 KiB

Open AccessReview

Reversible Dilated Cardiomyopathy: Into the Thaumaturgy of the Heart—Part 1

by Giovanni Quarta, Raffale Coppini, Pier Lambiase, Pablo Garcia-Pavia, Alice Calabrese, Anna Maria Iorio, Niccolò Maurizi, Maria Iascone, Antonello Gavazzi, Iacopo Olivotto and Michele Senni

Cardiogenetics 2016, 6(1), 5861; https://doi.org/10.4081/cardiogenetics.2016.5861 - 10 Oct 2016

Cited by 3 | Viewed by 620

Abstract

Dilated cardiomyopathy (DCM) is a genetic or acquired heart muscle disorder characterized by dilation and impaired contraction of one or both ventricles. In the acquired forms of the disease, if the pathogenic agent is persistent, undiagnosed or untreated, permanent ultrastructural and morphological changes [...] Read more.

Dilated cardiomyopathy (DCM) is a genetic or acquired heart muscle disorder characterized by dilation and impaired contraction of one or both ventricles. In the acquired forms of the disease, if the pathogenic agent is persistent, undiagnosed or untreated, permanent ultrastructural and morphological changes may lead to irreversible dysfunction. Conversely, when DCM is promptly recognized and treated, the heart may show an extraordinary ability to recover from left ventricular (LV) systolic dysfunction. While much research in heart failure has focused on morbidity and mortality associated with persistent LV systolic dysfunction, relatively little attention has been devoted to this remarkable potential for recovery. In this two-part review we will focus on the most common types of reversible DCM. The first part will deal with Tako-Tsubo cardiomyopathy, tachycardiainduced cardiomyopathy, metabolic DCM and recovery after Left ventricular assist device implantation. Although diverse in etiopathogenesis, genetic background, therapeutic options and outcome, the forms of DCM characterized by reversible LV dysfunction share similar challenges in diagnosis and clinical management. The identification of pathways to recovery may show the way for novel therapeutic targets ultimately benefitting all cardiac patients. Full article

651 KiB

Open AccessArticle

Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia

by Rohit S. Loomba, Peter C. Frommelt and Robert H. Anderson

Cardiogenetics 2016, 6(1), 5818; https://doi.org/10.4081/cardiogenetics.2016.5818 - 16 Sep 2016

Cited by 3 | Viewed by 660

Abstract

So-called heterotaxy or isomerism is characterized by abnormal lateralization and malformations of the bodily organs. The mechanism is unclear, although there is growing evidence that ciliary dyskinesia is involved. We reviewed genetic findings from patients with isomerism to determine if affected genes were [...] Read more.

So-called heterotaxy or isomerism is characterized by abnormal lateralization and malformations of the bodily organs. The mechanism is unclear, although there is growing evidence that ciliary dyskinesia is involved. We reviewed genetic findings from patients with isomerism to determine if affected genes were known to be associated with isomerism and ciliary dyskinesia and determine associations between genotype and clinical findings. We identified patients with isomerism cared for over a 16- year period. Characteristics were compared between those with and without identified mutations. A total of 83 patients with isomerism were identified. Of those who had genotyping, 14/27 had mutations identified, most frequently involving the CFC1 and NODAL genes. Specific mutations were associated with clinical findings, with NODAL mutations often portending need for increased clinical support. Genes associated with isomerism and/or ciliary dyskinesia were identified in the cohort. Specific gene mutations may help predict clinical course. Full article

Journal Menu

Journal Browser

Cardiogenetics, Volume 6, Issue 1 (September 2016) – 5 articles

Further Information

Guidelines

MDPI Initiatives

Follow MDPI