Genetic and genomics in congenital heart disease: a clinical review

Saliba, Aline; Figueiredo, Ana Carolina Vaqueiro; Baroneza, José Eduardo; Afiune, Jorge Yussef; Pic‐Taylor, Aline; Oliveira, Silviene Fabiana de; Mazzeu, Juliana Forte

doi:10.1016/j.jped.2019.07.004

Cited by 27 publications

(21 citation statements)

References 47 publications

(177 reference statements)

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“…This syndrome is associated with heterogeneous clinical pictures, even within the same family. Generally, patients present alterations such as immunodeficiency, hypocalcemia, hypoparathyroidism, characteristically abnormal facial features, impaired neurological development and cardiac malformations [105]. The latter can be identified in up to 70% of cases, and consist mainly of cono-truncal development impairment such as anomalies of the aortic arch (right aortic arch, double or interrupted type B aortic arch), misaligned VSD, HLHS, TGV, ASD, pulmonary atresia or PS, ToF, and CTA (Table 1).…”

Section: Patau Syndromementioning

confidence: 99%

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

Diz

Toro

César

et al. 2021

JPM

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Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

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Section: Patau Syndromementioning

confidence: 99%

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

Diz

Toro

César

et al. 2021

JPM

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“…Congenital heart disease occurs during fetal growth and development in the uterus and can be triggered by both genetic and environmental factors. About 8 to 11 per 1000 live births are affected by these abnormalities that with or without treatment may lead to the death of the child depending on the severity of the abnormality (in 1 case per 1000 live births) [1][2][3]. Today, in 47-85% of cases, children with congenital heart disease survive into adulthood [4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Short and Long-term Consequences/results of Covered Stents in Children for the Management of Complex Coarctation of the Aorta

Mortezayian

Ghaemi

Moradian

et al. 2022

Preprint

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Background: The use of covered stents in cases of complex coarctation of the Aorta is now increasing. However, its long-term benefits for children, adolescents and young adults remain unclear. We assessed the long-term results of covered stents in children with complex coarctation of the Aorta. Methods: Forty-seven children with complex coarctation of the Aorta treated with covered stents were retrospectively assessed. The patients were followed up for 6 to 12 months to evaluate the long-term outcome. Results: The most common indications for using covered stent were long segment coarctation of the Aorta plus hypoplasia of the aortic arch (23.4%) followed by coarctation of the Aorta with PDA (23.4%) and interrupted aortic arch (19.1%). A single stent was used in 87.2%, two and three covered stents were used in 10.6% and 2.1%, respectively. During follow-up, short-term procedural complications were detected in 25.5% included isolated residual coarctation of the Aorta in 25.0%, followed by residual coarctation of the Aorta plus closure of the left subclavian artery in 16.6%. Short-term complications were femoral artery dissection (8.3%), femoral artery thrombosis (8.3%), stent dislocation and closure of left subclavian artery (8.3%), residual COA and closure of left subclavian artery (16.6%), residual COA (25%), endoleak (8.3%), endoleak and pseudoaneurysm (8.3%), endoteliaztion (8.3%) and retroperitoneal hematoma (8.3%). In long-term following-up, 10.6% showed significant complications including endoleak, residual hypertension, and residual coarctation. Overall, 25.6% underwent re-dilation successfully. Conclusion: The covered stent can be used as an effective and uncomplicated treatment in children with complex coarctation of the Aorta.

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“…С помощью данных вмешательств можно предотвратить не только такие инвалидизирующие и жизнеугрожающие осложнения, как инфаркт мио карда, острое нарушение мозгового кровообращения, но и приостановить атеросклеротический процесс, не допустить развития артериальной гипертонии (АГ), ИБС, хронической сердечной недостаточности [1]. Профилактика на преконцепционном и пренатальном этапах позволяет снизить риск рождения детей с врожденными пороками сердца и генетически обусловленными заболеваниями [4][5][6].…”

Section: Introductionunclassified

“…Положительные эффекты профилактики ССЗ реализуются посредством различных молекулярных механизмов: предотвращение хромосомных аномалий или неблагоприятных генных мутаций, изменение метаболизма (уменьшение степени воспаления, окислительного стресса, перекисного окисления липидов, нормализация нейрогуморальной регуляции), трансформация эпигенетического регулирования (изменение метилирования дезоксирибонуклеиновой кислоты (ДНК), экспрессии малых некодирующих молекул рибонуклеиновой кислоты (микроРНК), модификации гистонов) [4][5][6]13].…”

Section: Introductionunclassified

“…Образ жизни родителей влияет на геном и эпигеном яйцеклеток и сперматозоидов. Так, сигарет-ный дым повышает вероятность генетических мутаций и хромосомных аномалий при образовании гамет, что в дальнейшем может приводить к развитию врожденных пороков сердца [4,5]. Имеются доказательства того, что сигаретный дым модифицирует состав микроРНК в сперматозоидах курящих по сравнению с некурящими, тем самым оказывая влияние на процессы, жизненно важные для здорового состояния сперматозоидов и нормального развития эмбриона, в частности, вызывая гибель клеток [17].…”

Section: Introductionunclassified

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Lifelong prevention of cardiovascular disease. Part I: preconceptional, prenatal and infant periods of life

Копылова

Ершова

Мешков

et al. 2020

Cardiovasc Ther Prev

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Current prophylactic actions prevent or significantly delay the majority of cardiovascular diseases (CVD). Various factors are interconnected and affect a person throughout his life, determining the risk of CVD. This indicates the need for preventive measures at all stages of life and even before birth. The beneficial effects of CVD prevention are realized through various genetic, epigenetic and metabolic mechanisms. Due to the fact that many risk factors for CVD have a cumulative effect, the introduction of preventive measures from the earliest life stages will be most effective. The purpose of the article is to consider various aspects of CVD prevention in the preconceptional, prenatal and infant periods.

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Genetic and genomics in congenital heart disease: a clinical review

Cited by 27 publications

References 47 publications

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

Short and Long-term Consequences/results of Covered Stents in Children for the Management of Complex Coarctation of the Aorta

Lifelong prevention of cardiovascular disease. Part I: preconceptional, prenatal and infant periods of life

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