Cardiogenetics

539 KiB

Open AccessCase Report

Reverse Takotsubo Syndrome, a Case Report of a Rare Cause for Postpartum Heart Failure

by Leo Kilian, Philip Haaf, Otmar Pfister, Annina S. Vischer, Olav Lapaire and Thilo Burkard

Cardiogenetics 2018, 8(1), 7671; https://doi.org/10.4081/cardiogenetics.2018.7671 - 2 Oct 2018

Cited by 3 | Viewed by 908

Predominant causes for newly diagnosed postpartum heart failure are preeclampsia and peripartum cardiomyopathy. Being an anatomical variant of Takotsubo syndrome (TTS) reverse TTS in this period is rare. We present a 36 year old patient, who had delivered triplets by cesarean section. Because [...] Read more.

Predominant causes for newly diagnosed postpartum heart failure are preeclampsia and peripartum cardiomyopathy. Being an anatomical variant of Takotsubo syndrome (TTS) reverse TTS in this period is rare. We present a 36 year old patient, who had delivered triplets by cesarean section. Because of postpartum bleeding she was administered sulprostone. Later she was transferred to the Intensive Care Unit with sudden development of dyspnea, tachypnea and tachycardia. Clinical symptoms, laboratory findings and chest radiograph showed signs of acute heart failure. Transthoracic echocardiography (TTE) revealed reverse TTS with moderately reduced left ventricular ejection fraction (LVEF 39%). The patient stabilized with loop diuretic, angiotensine-converting enzyme inhibitors and beta-blockade. Breast-feeding was discouraged and bromocriptine administered. Left ventricular function normalized (LVEF 60%) within four weeks. TTS should be considered in patients with early postpartum development of heart failure. Rapid cardiac recompensation after the start of adequate therapy and complete resolution of clinical symptoms and TTE findings are typical for postpartum TTS. Full article

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Open AccessReview

A Therapeutic Genome Editing Primer for Cardiologists

by Martina Caiazza, Daniele Masarone and Giuseppe Limongelli

Cardiogenetics 2018, 8(1), 7262; https://doi.org/10.4081/cardiogenetics.2018.7262 - 16 May 2018

Cited by 1 | Viewed by 690

Abstract

Genome editing, or genome engineering is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome of a living organism using engineered nucleases, or molecular scissors. Genome editing is being rapidly adopted into all fields of [...] Read more.

Genome editing, or genome engineering is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome of a living organism using engineered nucleases, or molecular scissors. Genome editing is being rapidly adopted into all fields of biomedical research, including the cardiovascular field, where it has facilitated a greater understanding of lipid metabolism, electrophysiology, cardiomyopathies, and other cardiovascular disorders, has helped to create a wider variety of cellular and animal models, and has opened the door to a new class of therapies. In this review, we discuss the applications of in vivo genome-editing therapies for cardiovascular disorder. Full article

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Open AccessArticle

Lamin-A/C Variants Found in Patients with Cardiac Conduction Disease Reduce Sodium Currents

by Michael A. Olaopa, Katherine G. Spoonamore, Deepak Bhakta, Zhenhui Chen, Patricia B.S. Celestino-Soper, Peng-Sheng Chen, Tomohiko Ai and Matteo Vatta

Cardiogenetics 2018, 8(1), 7127; https://doi.org/10.4081/cardiogenetics.2018.7127 - 22 Feb 2018

Cited by 3 | Viewed by 987

Abstract

Variants in the LMNA gene, which encodes Lamin-A/C, have been commonly associated with cardiac conduction system diseases usually accompanying cardiomyopathy. We have seen two unrelated patients who presented with atrioventricular block (AVB) with or without cardiomyopathy. Genetic testing identified the LMNA missense variant [...] Read more.

Variants in the LMNA gene, which encodes Lamin-A/C, have been commonly associated with cardiac conduction system diseases usually accompanying cardiomyopathy. We have seen two unrelated patients who presented with atrioventricular block (AVB) with or without cardiomyopathy. Genetic testing identified the LMNA missense variant c.1634G>A (p.R545H) and the single nucleotide deletion c.859delG (p.A287Lfs*193). The deletion leads to a shift in the reading frame and subsequent protein truncation. Since impaired Na_v1.5 function has been reported to cause AVB, we sought to investigate the effects of abnormal Lamins on Na_v1.5 in HEK-293 cells using patch-clamp methods. Patch-clamp studies showed that p.R545H decreased the peak I_Na by approximately 70%. The voltage-dependency of steady state inactivation was rightward shifted in the cells transfected with p.R545H. The p.A287Lfs*193 also decreased the peak I_Na by approximately 62%. The voltagedependency of steady state inactivation was rightward shifted in the cells transfected with p.A287Lfs*193. Variants of the LMNA gene caused significant reduction of the peak I_Na in HEK-293 cells, which may account for the patients’ AVB. Full article

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Open AccessViewpoint

Risk of Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy: Time to Solve the Mystery

by Gabrielle Norrish and Jnua Pablo Kaski

Cardiogenetics 2018, 8(1), 7201; https://doi.org/10.4081/cardiogenetics.2018.7201 - 29 Jan 2018

Cited by 3 | Viewed by 673

Abstract

Hypertrophic cardiomyopathy (HCM) is defined as left ventricular hypertrophy in the absence of loading conditions sufficient to cause the observed abnormality. The true prevalence in childhood is unknown; the aetiology is more heterogeneous than that seen in adult populations, and includes inborn errors [...] Read more.

Hypertrophic cardiomyopathy (HCM) is defined as left ventricular hypertrophy in the absence of loading conditions sufficient to cause the observed abnormality. The true prevalence in childhood is unknown; the aetiology is more heterogeneous than that seen in adult populations, and includes inborn errors of metabolism, malformation syndromes and neuromuscular syndromes. However, one of the greatest clinical challenges in managing young patients with HCM is identifying those at greatest risk of sudden cardiac death. Full article

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Cardiogenetics, Volume 8, Issue 1 (January 2018) – 4 articles

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