The molecular mechanisms of cardiac development and related diseases DOI Creative Commons
Yingrui Li, Jianlin Du,

Songbai Deng

et al.

Signal Transduction and Targeted Therapy, Journal Year: 2024, Volume and Issue: 9(1)

Published: Dec. 23, 2024

Cardiac development is a complex and intricate process involving numerous molecular signals pathways. Researchers have explored cardiac through long journey, starting with early studies observing morphological changes progressing to the exploration of mechanisms using various biology methods. Currently, advancements in stem cell technology sequencing technology, such as generation human pluripotent cells organoids, multi-omics sequencing, artificial intelligence (AI) enabled researchers understand better. Many regulate development, including growth transcription factors signaling pathways, WNT signaling, retinoic acid Notch In addition, cilia, extracellular matrix, epigenetic modifications, hypoxia conditions also play important roles development. These crucial at one or even multiple stages Recent identified for autophagy, metabolic transition, macrophages Deficiencies abnormal expression these can lead types abnormalities. Nowadays, congenital heart disease (CHD) management requires lifelong care, primarily surgical pharmacological treatments. Advances techniques clinical genetic testing earlier diagnosis treatment CHD. However, technologies still significant limitations. The new technologies, AI will help us better promote prevention CHD future.

Language: Английский

Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up DOI Creative Commons
Asad Nawaz,

Zhaoxue Sheng,

Muhammad Junaid Akram

et al.

Frontiers in Cardiovascular Medicine, Journal Year: 2025, Volume and Issue: 12

Published: March 31, 2025

Background Pediatric cardiomyopathies are rare but life-threatening conditions with high mortality. Limited data exists on their clinical features and risk factors, especially in Asian populations, highlighting the need for further research this area. Methods This retrospective cohort study analyzed from 212 pediatric patients diagnosed hypertrophic cardiomyopathy (HCM), restrictive (RCM), or phenotype (RP-HCM) at a single center China October 2012 to 2023, follow-up until 31, 2024. Demographic, clinical, diagnostic data, as well outcomes, were reviewed. Logistic Cox regression models identified factors in-hospital long-term Results Among patients, 79.72% (169/212) had HCM, 16.98% (36/212) RCM, 3.30% (7/212) RP-HCM. Infection (75.47%, 160/212) heart failure (51.42%, 109/212) common comorbidities. In-hospital mortality was 5.19% (11/212), of 20.28% (43/212). The independent included left ventricular ejection fraction (LVEF), pulmonary hypertension, low-density lipoprotein (LDL) levels ( P < 0.05). Patients RP-HCM showed poorest rate 42.86%. Only 10.4% (22/212) underwent genetic testing, yet positive detection 63.7% (14/22). Conclusions underscores importance early diagnosis, integrated management cardiomyopathies. LVEF, LDL critical prognostic offering insights assessment affected children.

Language: Английский

Citations

0
Burden of Congenital Heart Anomalies in North Africa and the Middle East, 1990 to 2021: A Systematic Analysis for the Global Burden of Disease Study 2021 DOI Creative Commons
Hamidreza Soleimani, Pegah Bahiraie, Kiarash Tavakoli

et al.

Journal of the American Heart Association, Journal Year: 2025, Volume and Issue: unknown

Published: April 16, 2025

Background Congenital heart anomalies (CHAs) remain a significant global health burden despite advances in diagnosis and management. Data on CHA North Africa the Middle East region are scarce. This study aimed to estimate trends from 1990 2021. Methods Results Using Global Burden of Disease Research 2021 database, we assessed incidence, prevalence, mortality, disability‐adjusted life years (DALYs), stratified by age, sex, sociodemographic index (SDI) at regional national levels. Decomposition analysis was used evaluate impact population growth incidence. In 2021, CHAs caused 35 272 deaths (95% uncertainty interval [UI], 28 067–43 670) 3 181 543 DALYs UI, 2 544 864–3 899 408) region. Incidence prevalence increased 13% CI, 10–17) 70% 67–74), respectively, whereas CHA‐related declined 63% 28–73). Infants <12 months age accounted for 74.9% DALYs, with half occurring within first month. High‐SDI countries had lowest middle‐SDI showed most substantial decline mortality. highlighted that actual incidence is lower than expected growth. Conclusions Although increased, mortality decreased, particularly countries. The highest among infants, better outcomes higher‐SDI nations. More effective strategies needed reduce preventable childhood related

Language: Английский

Citations

0
Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children DOI Creative Commons
Cecilia Salzillo, Marco La Verde,

Amalia Imparato

et al.

Medicina, Journal Year: 2024, Volume and Issue: 60(12), P. 1976 - 1976

Published: Dec. 1, 2024

Chromosomal abnormalities (CAs) are changes in the number or structure of chromosomes, manifested as alterations total chromosomes structural involving loss, duplication, rearrangement chromosomal segments. CAs can be inherited occur spontaneously, leading to congenital malformations and genetic diseases. associated with cardiovascular diseases cause functional heart, affecting cardiac chambers, valves, coronary arteries, aorta, conduction, thus increasing likelihood arrhythmias, arrest, sudden death (SCD). An early diagnosis adequate management essential prevent SCD, which is a serious public health problem today. In our review, we analyzed responsible for heart disease (CHD) that increase risk SCD prevention strategies implemented reduce SCD.

Language: Английский

Citations

2
Congenital heart diseases (CHDs) and forensic investigations: Searching for the cause of death DOI Creative Commons
Francesco Sessa,

Mario Giuseppe Chisari,

Monica Salerno

et al.

Experimental and Molecular Pathology, Journal Year: 2024, Volume and Issue: 137, P. 104907 - 104907

Published: May 30, 2024

Congenital Heart Diseases (CHDs) are a group of structural abnormalities or defects the heart that present at birth. CHDs could be connected to sudden death (SD), defined by WHO (World Health Organization) as "death occurring within 24 h after onset symptoms" in an apparently "healthy" subject. These conditions can range from relatively mild severe, life-threatening anomalies. The prevalence varies across populations, but they affect millions individuals worldwide. This article aims discuss post-mortem investigation related CHDs, exploring forensic approach, current methodologies, challenges, and potential advancements this challenging field. A further goal is provide guide for understanding these complex diseases, highlighting pivotal role autopsy, histopathology, genetic investigations defining cause death, providing evidence about translational use autopsy reports. Forensic play crucial complexities determining accurately. Through collaboration between medical professionals experts, meticulous examinations, analysis evidence, valuable insights gained. not only closure families affected also contribute prevention future tragedies.

Language: Английский

Citations

1
The molecular mechanisms of cardiac development and related diseases DOI Creative Commons
Yingrui Li, Jianlin Du,

Songbai Deng

et al.

Signal Transduction and Targeted Therapy, Journal Year: 2024, Volume and Issue: 9(1)

Published: Dec. 23, 2024

Cardiac development is a complex and intricate process involving numerous molecular signals pathways. Researchers have explored cardiac through long journey, starting with early studies observing morphological changes progressing to the exploration of mechanisms using various biology methods. Currently, advancements in stem cell technology sequencing technology, such as generation human pluripotent cells organoids, multi-omics sequencing, artificial intelligence (AI) enabled researchers understand better. Many regulate development, including growth transcription factors signaling pathways, WNT signaling, retinoic acid Notch In addition, cilia, extracellular matrix, epigenetic modifications, hypoxia conditions also play important roles development. These crucial at one or even multiple stages Recent identified for autophagy, metabolic transition, macrophages Deficiencies abnormal expression these can lead types abnormalities. Nowadays, congenital heart disease (CHD) management requires lifelong care, primarily surgical pharmacological treatments. Advances techniques clinical genetic testing earlier diagnosis treatment CHD. However, technologies still significant limitations. The new technologies, AI will help us better promote prevention CHD future.

Language: Английский

Citations

1