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Left ventricle non compaction

Pasquale Piccolo, Sergio Attanasio, Ilaria Secco, Riccardo Sangermano, Caterina Strisciuglio, Giuseppe Limongelli, Erasmo Miele, Margherita Mutarelli, Sandro Banfi, Vincenzo Nigro, Tirso Pons, Alfonso Valencia, Lorena Zentilin, Severo Campione, Gerardo Nardone, Ty C Lynnes, Patricia B S Celestino-Soper, Katherine G Spoonamore, Francesco P D'Armiento, Mauro Giacca, Annamaria Staiano, Matteo Vatta, Chiara Collesi, Nicola Brunetti-Pierri
We performed whole exome sequencing in individuals from a family with autosomal dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with epithelial hyperplasia and enhanced EGFR signalling. Ménétrier disease is believed to be an acquired disorder, but its aetiology is unknown. In affected members, we found a missense p.V742G variant in MIB2, a gene regulating NOTCH signalling that has not been previously linked to human diseases. The variant segregated with the disease in the pedigree, affected a highly conserved amino acid residue, and was predicted to be deleterious although it was found with a low frequency in control individuals...
December 23, 2016: Human Molecular Genetics
Hoang H Nguyen, Rabia Khan, Norman H Silverman, Gautam K Singh
Left ventricle non-compaction (LVNC) has worse outcomes when associated with congenital heart defects (CHD). The co-occurrence and outcomes of LVNC with tricuspid atresia (TA) are not well described. Our study aims to determine the prevalence of LVNC with functionally single ventricle due to TA, and to describe the early outcomes of surgical palliation. A retrospective database search for patients (n = 167,566) and echocardiograms (n = 44,053) was performed in order to collect clinical, echocardiographic, and hemodynamic data of pediatric patients with TA and LVNC at St...
December 10, 2016: Pediatric Cardiology
Jagdish C Mohan, Vishwas Mohan, Madhu Shukla, Arvind Sethi
Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation...
September 2016: Indian Heart Journal
Natalia Y Osovska, Natalia V Kuzminova
INTRODUCTION: isolated left ventricular non-compaction (LVNC) is a heart disease with rather distinct morphologic and clinical manifestations. Available in the literature information about LVNC considering multiple left ventricle abnormal chords (LVAC) as one of its criterion motivated us to review the results obtained in the study of young patients with this pathology. The aim of the research was to demonstrate different clinical variants of left ventricular non-compaction course in adult patients and to clarify some pathogenetic aspects of this pathology...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Rebeca Lorca, María Martín, José Julián R Reguero, Beatriz Díaz-Molina, César Morís, José Luis Lambert, Aurora Astudillo
No abstract text is available yet for this article.
November 15, 2016: International Journal of Cardiology
N Osovska, N Kuzminova, M Ovcharuk, O Serhiychuk
Structural heart anomalies (SHA) are congenital abnormalities of cardiovascular system, characterized by various anatomical departures of heart and great vessels from normal conditions. SHA are a part of connective tissue dysplasia syndrome (CTDS), one of the most common congenital autosomal-dominant diseases in people of young and middle age. The most common SHA are a mitral valve prolapse, abnormal chords of left ventricle and their combinations. The clinical significance of these anomalies depends on a degree of severity and impact on intracardial hemodynamics, as described in the article...
June 2016: Georgian Medical News
Umair Hayat, Chris Lim, Sylvia Chen
CLINICAL INTRODUCTION: A 75-year-old patient with hypertension and severe aortic stenosis underwent elective coronary angiography that showed mild non-obstructive disease in the mid left anterior descending artery (LAD). A left ventriculogram, however, demonstrated segmental systolic dysfunction with dilated akinetic apex (figure 1A, see online supplementary video 1). There was no history of prior myocardial infarction and the patient had not experienced any chest pain recently. A 12-lead ECG showed widespread deep symmetrical inverted T-waves with the exception of leads I, aVL and V1 (see online supplementary figure S1)...
July 14, 2016: Heart: Official Journal of the British Cardiac Society
C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, M Pedemonte, R Trovato, L Ruggiero, L Vercelli, A D'Amico, G Tasca, M Pane, M Fanin, L Bello, P Broda, O Musumeci, C Rodolico, S Messina, G L Vita, M Sframeli, S Gibertini, L Morandi, M Mora, L Maggi, A Petrucci, R Massa, M Grandis, A Toscano, E Pegoraro, E Mercuri, E Bertini, T Mongini, L Santoro, V Nigro, C Minetti, F M Santorelli, C Bruno
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy...
2016: Orphanet Journal of Rare Diseases
Sourabh Aggarwal, Jagadeesh Kalavakunta, Vishal Gupta
Non-compaction of ventricular myocardium (NCVM) is a rare genetic disorder caused by intrauterine arrest of endomyocardial development. Left ventricle is the usual site of NCVM with very rare reports of isolated right ventricular non-compaction (IRVNC). We describe a case of asymptomatic IRVNC with unique EKG changes.
January 2016: Heart Views: the Official Journal of the Gulf Heart Association
Gaetano D'Amato, Guillermo Luxán, José Luis de la Pompa
The vertebrate heart is the first organ to form and function during embryogenesis. Primitive streak-derived cardiac progenitors located bilaterally move rostral to form the primitive heart tube that subsequently undergoes rightward looping, remodelling and septation to give rise to the mature four-chambered heart. Tightly regulated tissue interactions orchestrate the patterning, proliferation and differentiation processes that give rise to the adult ventricles. Studies in animal models have demonstrated the crucial function of the Notch signalling pathway in ventricular development and how alterations in human NOTCH signalling may lead to disease in the form of cardiomyopathies, such as left ventricular noncompaction (LVNC)...
December 2016: FEBS Journal
Yeonu Choi, Sung Mok Kim, Sang-Chol Lee, Sung-A Chang, Shin Yi Jang, Yeon Hyeon Choe
BACKGROUND: Left ventricular non-compaction (LVNC) is an unclassified cardiomyopathy and there is no consensus on the diagnosis of LVNC. The aims of this study were to establish quantitative methods to diagnose LVNC using cardiovascular magnetic resonance (CMR) and to suggest refined semi-quantitative methods to diagnose LVNC. METHODS: This retrospective study included 145 subjects with mild to severe trabeculation of the left ventricle myocardium [24 patients with isolated LVNC, 33 patients with non-isolated LVNC, 30 patients with dilated cardiomyopathy (DCM) with non-compaction (DCMNC), 27 patients with DCM, and 31 healthy control subjects with mild trabeculation]...
2016: Journal of Cardiovascular Magnetic Resonance
Stefan Peters
No abstract text is available yet for this article.
July 15, 2016: International Journal of Cardiology
Eric Emmanuel Coris, Byron Keith Moran, Raymond De Cuba, Ted Farrar, Anne B Curtis
Isolated left ventricular non-compaction (LVNC) has usually been viewed as a rare cardiomyopathy in athletes. However, with advances in diagnostic imaging techniques and increased use of pre-participation screening electrocardiograms (ECGs), apparent LVNC is being recognized in an increasing number of athletes. Given the lack of a true gold standard for diagnosis, significant debate continues regarding optimal diagnostic criteria. There are increasing data to support the possibility of over-diagnosing this cardiomyopathy in an athletic population due to the physiologic adaptation to the extreme preload and afterload characteristic of intense athletic participation...
September 2016: Sports Medicine
Belma Kalaycı, Süleyman Kalaycı, Turgut Karabağ, Mustafa Aydın
Non-compaction cardiomyopathy (NCM) is a rare congenital cardiomyopathy characterized by deep increased trabeculation in one or more segments of the ventricle. The apical segment of the left ventricle is most commonly affected, but left ventricular basal segment, biventricular involvement or right ventricle predominance have also been described. While some neuromuscular anomalies and myopathies had been described in systemic sclerosis patients, coexistence of chronic inflammatory disorders and NCM is unclear...
December 2015: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Aldo L Schenone, Aaron Cohen, Gosta Pettersson, David Majdalany
Bicuspid aortic valve (BAV) is the most common form of congenital heart disease, with 20% of asymptomatic adults with BAV presenting with significant valve insufficiency. Yet, limited data exist regarding surgical indications and outcomes when BAV is accompanied by left ventricular dilation, systolic dysfunction, or left ventricle non-compaction (LVNC) syndrome. We present a case of dilated cardiomyopathy due to severe BAV regurgitation and partial LVNC syndrome and the decision to undergo aortic valve replacement...
May 2016: World Journal for Pediatric & Congenital Heart Surgery
J Dąbek, M Majewski, W Walkowicz, Z Gąsior
Left ventricular non-compaction (LVNC) is a rare cardiomyopathy that results from unsettled embryogenesis of myocardium. It is morphologically characterised by the presence of non-compacted, this is hypertrabeculated, myocardium of the left ventricle with deep endocardial recesses. The clinical spectrum of symptoms is very wide - from asymptomatic patients through the cases of heart failure to the patients requiring heart transplantation. The diagnosis is most frequently based on the echocardiography. LVNC is often coexisted with other heart defects and coronary artery abnormalities...
2015: Folia Morphologica (Warsz)
Emad Muhammad, Aviva Levitas, Sonia R Singh, Alex Braiman, Rivka Ofir, Sharon Etzion, Val C Sheffield, Yoram Etzion, Lucie Carrier, Ruti Parvari
Gene mutations, mostly segregating with a dominant mode of inheritance, are important causes of dilated cardiomyopathy (DCM), a disease characterized by enlarged ventricular dimensions, impaired cardiac function, heart failure and high risk of death. Another myocardial abnormality often linked to gene mutations is left ventricular noncompaction (LVNC) characterized by a typical diffuse spongy appearance of the left ventricle. Here, we describe a large Bedouin family presenting with a severe recessive DCM and LVNC...
December 20, 2015: Human Molecular Genetics
Anitha Parthiban, Girish Shirali
Heart failure in children can result from a wide range of aetiologies and can manifest in systolic and/or diastolic dysfunction. Echocardiography is the primary test for the diagnosis and follow-up of children with heart failure. In this article, we critically review standard echocardiographic measurements that have been shown to have prognostic importance in children with various types of heart failure. Each of the common forms of cardiomyopathy that is encountered in childhood--dilated, hypertrophic, restrictive, left ventricular non-compaction, and arrhythmogenic right ventricular cardiomyopathy--is discussed separately...
August 2015: Cardiology in the Young
Jia Zhou, Leiqi Tian, Qichang Zhou, Shi Zeng, Jiawei Zhou, Rongsen Zhang, Hai Tong
OBJECTIVE: To evaluate the echocardiographic diagnosis for ventricular non-compaction cardiomyopathy (NCCM) in foetus and to analyze the pathologic features of NCCM.
 METHODS: A total of 9 patients with fetal NCCM were examined by prenatal echocardiography from 2004 to 2013, which was compared with postnatal echocardiography or autopsy to analyze the fetal characteristic of myocardial ultrastructure.
 RESULTS: The results of echocardiography displayed an excessive muscle trabecular meshwork and muscle trabecular crypt, and the ventricular myocardium and non-compaction/compaction ratio was ≥2...
July 2015: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
Gonzalo Grazioli, Maria Sanz, Silvia Montserrat, Bàrbara Vidal, Marta Sitges
Echocardiography is currently a widely available imaging technique that can provide useful data in the field of sports cardiology particularly in two areas: pre-participation screening and analysis of the cardiac adaptation induced by exercise. The application of pre-participation screening and especially, the type and number of used diagnostic tests remains controversial. Echocardiography has shown though, higher sensitivity and specificity as compared to the ECG, following a protocol adapted to athletes focused on ruling out the causes of sudden death and the most common disorders in this population...
2015: F1000Research
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