Renin–angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes

Rani, Bindu; Kumar, Amit; Bahl, Ajay; Sharma, Rajni; Prasad, Rishikesh; Khullar, Madhu

doi:10.1007/s11010-016-2891-y

Cited by 21 publications

(32 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Several studies have investigated the role of non-sarcomeric polymorphisms as potential disease modifiers, yet, additional studies are needed to replicate and further explore potential impact on disease. 34, 35 In general, there is limited understanding of genetic, environmental, and other, as of yet undiscovered, modifying factors in pediatric cardiomyopathy.…”

Section: Overviewmentioning

confidence: 99%

Pediatric Cardiomyopathies

Lee

Hsu

Kantor

et al. 2017

Circulation Research

247

218

View full text Add to dashboard Cite

Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1–1.5 per 100,000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of co-morbidities such as atherosclerosis, hypertension, renal dysfunction, and diabetes; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, etiology, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphologic and clinical manifestations, their outcomes differ significantly. Within two years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a two-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies, and highlights key areas where additional research is required.

show abstract

Section: Overviewmentioning

confidence: 99%

Pediatric Cardiomyopathies

Lee

Hsu

Kantor

et al. 2017

Circulation Research

247

218

View full text Add to dashboard Cite

show abstract

“…Alongside the phenotypic heterogeneity, disease onset can occur at any moment in an individual’s life with significant hypertrophy capable of carrying on to old age without proportionately significant complications [81]. Such features including recent SNP analyses of contributions from non-sarcomeric polymorphisms demonstrate the multi-factorial nature of the disease [3, 115, 143].…”

Section: Epidemiology and Clinical Relevancementioning

confidence: 99%

Coronary arterial vasculature in the pathophysiology of hypertrophic cardiomyopathy

Marszalek

Solaro

Wolska

2018

Pflugers Arch - Eur J Physiol

View full text Add to dashboard Cite

Alterations in the coronary vascular system are likely associated with a mismatch between energy demand and energy supply and critical in triggering the cascade of events that leads to symptomatic hypertrophic cardiomyopathy. Targeting the early events, particularly vascular remodeling, may be a key approach to developing effective treatments. Improvement in our understanding of hypertrophic cardiomyopathy began with the results of early biophysical studies, proceeded to genetic analyses pinpointing the mutational origin, and now pertains to imaging of the metabolic and flow-related consequences of such mutations. Microvascular dysfunction has been an ongoing hot topic in the imaging of genetic cardiomyopathies marked by its histologically significant remodeling and has proven to be a powerful asset in determining prognosis for these patients as well as enlightening scientists on a potential pathophysiological cascade that may begin early during the developmental process. Here, we discuss questions that continue to remain on the mechanistic processes leading to microvascular dysfunction, its correlation to the morphological changes in the vessels, and its contribution to disease progression.

show abstract

“…Отношение шансов развития ИЭ у носителей генотипа ТТ полиморфизма rs2476601 (С1858T) гена PTPN22 значительно выше по сравнению с носителями двух других генотипов (C/T+C/C): OШ =8,49, 95% ДИ: 1,67-43,02, p=0,006. Экспрессия гена ACE приводит к увеличению концентрации ангиотензинпревращающего фермента в крови, лимфе и тканях, что является фактором, повышающим риск развития сердечно-сосудистых заболеваний (инфаркта миокарда, гипертрофии левого желудочка, ишемической болезни серд ца), болезни почек, атеросклероза, болезни Альцгеймера, кардиомиопатий [13]. Нами не выявлено ассоциаций с эндокардитами I/D полиморфизма гена ACE.…”

Section: частоты генотипов онп в группе с ниэ и иэ и контрольной группеunclassified

Association of polymorphism of some candidate genes with the development of non-infectious and infectious endocarditis

et al. 2018

View full text Add to dashboard Cite

Цель. Выявление возможных ассоциативных связей между полиморфизмами генов-кандидатов и развитием эндокардитов инфекционного (ИЭ) и неинфекционного генеза. Материал и методы. Было обследовано 175 пациентов, которые были разделены на две группы: первая -81 пациент с неинфекционным эндокардитом и вторая -94 пациента с ИЭ. Мы приводим сравнительный анализ частот генотипов полиморфизмов пяти генов: rs11697325 (-8202 A/G) гена MMP9, 4а/4b гена NOS3, rs4340 гена ACE, rs2476601 (С1858T) гена PTPN22, rs231775 (49 A/G) гена CTLA4 в группах с эндокардитами и здоровых индивидуумов. Результаты. Обнаружена ассоциация с эндокардитами rs11697325 (-8202 A/G) гена MMP-9 и 4а/4b гена NOS3, а также rs2476601 (С1858T) гена PTPN22 с ИЭ. Заключение. Таким образом, для трех из пяти изученных нами полиморфизмов выявлена ассоциация с синдромом вегетаций на клапанном аппарате сердца.Российский кардиологический журнал. 2018;23(10):83-88 http://dx.

show abstract

Renin–angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes

Cited by 21 publications

References 20 publications

Pediatric Cardiomyopathies

Pediatric Cardiomyopathies

Coronary arterial vasculature in the pathophysiology of hypertrophic cardiomyopathy

Association of polymorphism of some candidate genes with the development of non-infectious and infectious endocarditis

Contact Info

Product

Resources

About