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Roosevelt Bryant, David Morales
Transplantation for adult patients with congenital heart disease (ACHD) is a growing clinical endeavor in the transplant community. Understanding the results and defining potential high-risk patient subsets will allow optimization of patient outcomes. This review summarizes the scope of ACHD transplantation, the mechanisms of late ventricular dysfunction, the ACHD population at risk of developing heart failure, the indications and potential contraindications for transplant, surgical considerations, and post-transplant outcomes...
January 2018: Annals of Cardiothoracic Surgery
M Louise Morrison, Corrina McMahon, Riona Tully, Noelle Enright, Ricardo Pignatelli, Jeffrey A Towbin, Colin J McMahon
OBJECTIVES: Incidence of sickle cell disease (SCD) in Ireland has dramatically increased. Disease survival has also steadily improved however cardiovascular manifestations remain important causes of morbidity. These include reports of left ventricular hypertrabeculation (LVHT)/noncompaction. We sought to investigate the prevalence of LVHT among a large cohort of children with SCD. METHODS: We retrospectively reviewed the records of all patients with a diagnosis of SCD who had undergone surveillance echocardiography at Our Lady's Children's Hospital Crumlin (OLCHC) from 1998 to 2015...
February 21, 2018: Congenital Heart Disease
Erwin Oechslin, Rolf Jenni
No abstract text is available yet for this article.
February 20, 2018: Journal of the American College of Cardiology
Jaap I van Waning, Kadir Caliskan, Yvonne M Hoedemaekers, Karin Y van Spaendonck-Zwarts, Annette F Baas, S Matthijs Boekholdt, Joost P van Melle, Arco J Teske, Folkert W Asselbergs, Ad P C M Backx, Gideon J du Marchie Sarvaas, Michiel Dalinghaus, Johannes M P J Breur, Marijke P M Linschoten, Laura A Verlooij, Isabella Kardys, Dennis Dooijes, Ronald H Lekanne Deprez, Arne S IJpma, Maarten P van den Berg, Robert M W Hofstra, Marjon A van Slegtenhorst, Jan D H Jongbloed, Danielle Majoor-Krakauer
BACKGROUND: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. OBJECTIVES: This study investigated the correlations among genetics, clinical features, and outcomes in adults and children diagnosed with NCCM. METHODS: A retrospective multicenter study from 4 cardiogenetic centers in the Netherlands classified 327 unrelated NCCM patients into 3 categories: 1) genetic, with a mutation in 32% (81 adults; 23 children) of patients; 2) probably genetic, familial cardiomyopathy without a mutation in 16% (45 adults; 8 children) of patients; or 3) sporadic, no family history, without mutation in 52% (149 adults; 21 children) of patients...
February 20, 2018: Journal of the American College of Cardiology
Hugo R Martinez, Stephanie M Ware, Marcus S Schamberger, John J Parent
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD). Single cases document co-occurrence of LVNC and heterotaxy, but no data exist regarding the prevalence of this association. This study sought to determine whether a non-random association of LVNC and heterotaxy exists by evaluating the prevalence of LVNC in patients with heterotaxy. In a retrospective review of the Indiana Network for Patient Care, we identified 172 patients with heterotaxy (69 male, 103 female)...
September 2017: Progress in Pediatric Cardiology
Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti
BACKGROUND: Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation is reported as cosegregating for familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. METHODS AND RESULTS: In an Italian family of 7 subjects, 4 aged 10 (II-1), 14 (II-2), 43 (I-4) and 46 years (I-5), presenting abnormal ECG changes, dyspnea and palpitation (II-2, I-4, and I-5), and recurrent cerebral ischemic attack (I-5), underwent 2-dimensional echo, cardiac magnetic resonance, Holter monitoring, and next-generation sequencing gene analysis...
February 10, 2018: Journal of the American Heart Association
Jay Brieler, Matthew A Breeden, Jane Tucker
The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, which result in varied phenotypes including dilated, hypertrophic, and restrictive patterns. Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death. Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction...
November 15, 2017: American Family Physician
Stephan Knöchner, K Kronberg, U Schumann
ANAMNESIS:  A 47-year-old recreational sportsman showed in a routine ergometry polymorphic ventricular extrasystoles with good physical performance. INVESTIGATIONS:  In resting ECG impressed ventricular extrasystoles (VES) predominantly right-hand-block-like with superior axis, a long-term ECG yielded up to 100 VES per hour. Echocardiographically imposing 4 - 5 trabeculae, feathered, reticular structures apically in the left and lower in the right ventricle...
February 2018: Deutsche Medizinische Wochenschrift
Changqing Tang, Yuxin Deng, Hongyu Duan, Yi Zhang, Yifei Li, Dajian Qiu, Kaiyu Zhou, Yimin Hua, Chuan Wang
Accumulating evidence has suggested a link between maternal di-(2-ethylhexyl)-phthalate (DEHP) exposure and various developmental abnormalities. However, the evidence regarding the effect of maternal DEHP exposure on fetal cardiac development is scarce. The present study aimed to determine the effect of maternal DEHP exposure on fetal cardiac development in mice and explore the possible involved mechanism preliminarily. The C57BL mice were randomly divided into four groups: the vehicle group (corn oil, n = 10), 250 mg kg-1 DEHP group (n = 15), 500 mg kg-1 DEHP group (n = 20) and 1 g kg-1 DEHP group (n = 20)...
January 26, 2018: Journal of Applied Toxicology: JAT
Ryosuke Yokoyama, Koshi Kinoshita, Yukiko Hata, Masayoshi Abe, Kenta Matsuoka, Keiichi Hirono, Masanobu Kano, Makoto Nakazawa, Fukiko Ichida, Naoki Nishida, Toshihide Tabata
We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). Here, we explored the possible pathogenicity of HCN4(G811E), which results in a G811E substitution in hyperpolarization-activated cyclic nucleotide-gated channel 4, the main subunit of the cardiac pacemaker channel. Voltage-clamp measurements in a heterologous expression system of HEK293T cells showed that HCN4(G811E) slightly reduced whole-cell HCN4 channel conductance, whereas it did not affect the gating kinetics, unitary conductance, or cAMP-dependent modulation of voltage-dependence...
January 18, 2018: Heart and Vessels
Wen Lin, Deqiang Li, Lan Cheng, Li Li, Feiyan Liu, Nicholas J Hand, Jonathan A Epstein, Daniel J Rader
Isolated left ventricular noncompaction (LVNC) results from excessive trabeculation and impaired myocardial compaction during heart development. The extracellular matrix (ECM) that separates endocardium from myocardium plays a critical but poorly understood role in ventricular trabeculation and compaction. In an attempt to characterize solute carrier family 39 member 8-null (Slc39a8-null) mice, we discovered that homozygous null embryos do not survive embryogenesis, and exhibit a cardiac phenotype similar to human LVNC...
January 16, 2018: Journal of Clinical Investigation
Robert W Dettman, Derin Birch, Augusta Fernando, John A Kessler, Maria L V Dizon
Hypoxic-ischemic injury (HI) to the neonatal human brain results in myelin loss that, in some children, can manifest as cerebral palsy. Previously, we had found that neuronal overexpression of the bone morphogenic protein (BMP) inhibitor noggin during development increased oligodendroglia and improved motor function in an experimental model of HI utilizing unilateral common carotid artery ligation followed by hypoxia. As BMPs are known to negatively regulate oligodendroglial fate specification of neural stem cells and alter differentiation of committed oligodendroglia, BMP signaling is likely an important mechanism leading to myelin loss...
January 12, 2018: Developmental Neuroscience
Josef Finsterer, Claudia Stöllberger
No abstract text is available yet for this article.
January 2018: Journal of the Saudi Heart Association
Joel Salazar-Mendiguchía, José González-Costello, Teresa Oliveras, Francisco Gual, Josep Lupón, Nicolás Manito
No abstract text is available yet for this article.
December 27, 2017: Revista Española de Cardiología
Paola Dolader, Ferran Gran, Gemma Giralt, Queralt Ferrer, Ferran Rosés-Noguer, Dimpna C Albert
No abstract text is available yet for this article.
December 5, 2017: Revista Española de Cardiología
Ray E Hershberger, Ana Morales, Jason Cowan
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
Erin M Miller, Robert B Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R Shikany, Richard F Ittenbach, Stephanie M Ware
BACKGROUND: Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield...
December 2017: Circulation. Cardiovascular Genetics
Wenyu Fu, Qixiao Xia
To evaluate the influence of deployment strategy on the mechanical interaction between braided stent and parent artery of intracranial aneurysm (the elasticity of the arterial wall is considered), finite-element analyses are carried out by referring to computational models of flow-diverter device and arterial wall. Two implantation strategies are used to virtually implant the braided stent into the ideal intracranial aneurysm model. One is the noncompacted implantation method, and the other is the implantation method of using push-pull technique...
2017: Applied Bionics and Biomechanics
Keiichi Hirono, Takehiko Sakai, Yukiko Hata, Naonori Nishida
No abstract text is available yet for this article.
March 2018: Journal of Thoracic and Cardiovascular Surgery
Ikuo Misumi, Tsuyoshi Honda, Masanobu Ishii, Kunihiro Ohmori
No abstract text is available yet for this article.
December 1, 2017: Journal of Echocardiography
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