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Cardiogenetics
Volume 9
Issue 1
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Cardiogenetics, Volume 9, Issue 1 (April 2019) – 7 articles

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345 KiB  
Case Report
Ranolazine Treatment for Refractory Angina in a Patient with Hutchinson-Gilford Progeria Syndrome and End Stage Aortic Stenosis
by Giuseppe Limongelli, Emanuele Monda, Giovanbattista Capozzi, Martina Caiazza and Maria Giovanna Russo
Cardiogenetics 2019, 9(1), 14-15; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8609 - 30 Jan 2020
Cited by 1 | Viewed by 947
Abstract
Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or percutaneous approach, to whom the administration of [...] Read more.
Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or percutaneous approach, to whom the administration of ranolazine resulted in a considerable improvement of angina, refractory to other treatments. Full article
1676 KiB  
Article
FLNC Missense Variants in Familial Noncompaction Cardiomyopathy
by Jaap I. van Waning, Yvonne M. Hoedemaekers, Wouter P. te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur van den Wijngaard, Albert Suurmeijer, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer and Paul A. van der Zwaag
Cardiogenetics 2019, 9(1), 8181; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8181 - 08 Oct 2019
Cited by 3 | Viewed by 1311
Abstract
The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and [...] Read more.
The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the spectrum of FLNC related cardiomyopathies by presenting two families with likely pathogenic FLNC variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities. Full article
2318 KiB  
Case Report
Non-Ischemic Scar Underlines Ventricular Arrhythmias in Kearns-Sayre Syndrome
by Stefano Figliozzi, Alessandro Zorzi, Martina Perazzolo Marra, Alessandro Ruocco, Sabino Iliceto, Domenico Corrado and Chiara Calore
Cardiogenetics 2019, 9(1), 8194; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8194 - 29 Jul 2019
Viewed by 744
Abstract
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease in which cardiac involvement has been associated with poor prognosis. Although the most common clinical manifestation is progressive conduction system impairment, patients can suffer from ventricular arrhythmias. Yet, they show a high prevalence of sudden [...] Read more.
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease in which cardiac involvement has been associated with poor prognosis. Although the most common clinical manifestation is progressive conduction system impairment, patients can suffer from ventricular arrhythmias. Yet, they show a high prevalence of sudden cardiac death, whose etiopathological mechanism is not completely understood. Cardiac magnetic resonance is a rising tool to detect subclinical heart involvement in many heart diseases and was recently able to detect nonischemic scar, which is an arrhythmogenic substrate, in patients affected by KSS. Full article
519 KiB  
Brief Report
An Unusual Cause of Right Heart Failure
by Paul Hill, Jagdip Sidhu and Rachel Bastiaenen
Cardiogenetics 2019, 9(1), 7503; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.7503 - 24 Jul 2019
Viewed by 735
Abstract
Carcinoid syndrome is a paraneoplastic condition, which usually affects the lungs or gastrointestinal tract but uncommonly cardiac valves can be involved, causing carcinoid heart disease. We describe a case of a 60-year-old man presented with a twelve-month history of worsening shortness of breath [...] Read more.
Carcinoid syndrome is a paraneoplastic condition, which usually affects the lungs or gastrointestinal tract but uncommonly cardiac valves can be involved, causing carcinoid heart disease. We describe a case of a 60-year-old man presented with a twelve-month history of worsening shortness of breath and decreased exercise tolerance. Investigations confirmed grade 1 metastatic neuroendocrine carcinoma (carcinoid tumour) of likely gastrointestinal tract origin. Two months after diagnosis he underwent successful tricuspid valve replacement and pulmonary root replacement. Cytoreductive surgery of the right lobe of the liver and the ileal primary is planned. Cardiac surgery is the only definitive treatment for carcinoid heart disease and should be considered in all those with symptoms and evidence of severe valvular disease. Full article
263 KiB  
Letter
Response to Skinner: Risk Stratification in Hypertrophic Cardiomyopathy: Time to Think about the Electrocardiogram
by Juan Pablo Kaski
Cardiogenetics 2019, 9(1), 8048; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.8048 - 24 Apr 2019
Viewed by 670
Abstract
We thank Prof Skinner for his thoughtful comments on our review article in this Journal. [...] Full article
263 KiB  
Letter
Risk Stratification in Hypertrophic Cardiomyopathy: Time to Think about the Electrocardiogram
by Jonathan R. Skinner
Cardiogenetics 2019, 9(1), 7951; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.7951 - 24 Apr 2019
Cited by 4 | Viewed by 729
Abstract
The review article in this journal by Norrish and Kaski focuses on risk of sudden cardiac death in childhood hypertrophic cardiomyopathy and declare it is time to solve the mystery [...] Full article
330 KiB  
Brief Report
Atrial Myxoma and Williams-Beuren Syndrome. An Incidental Association?
by Giuseppe Limongelli, Fiorella Fratta, Annapaola Cirillo, Adelaide Fusco, Tommaso Marrazzo, Stefania Tramonte, Martina Caiazza, Giuseppe Caianiello and Maria Giovanna Russo
Cardiogenetics 2019, 9(1), 7779; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2019.7779 - 17 Apr 2019
Viewed by 819
Abstract
We report the case of a 15 years old girl with Williams-Beuren syndrome and atrial mixoma. Full article
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