Genetics in Congenital Heart Diseases

Baban, Anwar; Lodato, Valentina; Parlapiano, Giovanni; Drago, Fabrizio

doi:10.1016/j.hfc.2021.07.016

Cited by 9 publications

(10 citation statements)

References 99 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other structural cardiac features include congenital heart defects. It is increasingly recognized that genetics play an important role in a wide spectrum of cardiac involvement including congenital heart defects, myocardial disorders, and arrhythmic disorders ( 32 ). Indeed, one patient (patient 1) had a small atrial septal defect, another patient (patient 5) underwent percutaneous closure of a large atrial septal defect, and the third patient (patient 2) had a surgically corrected large atrial and ventricular septal defect.…”

Section: Discussionmentioning

confidence: 99%

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

Baban

Cicenia

Magliozzi

et al. 2023

Front. Cardiovasc. Med.

Self Cite

View full text Add to dashboard Cite

BackgroundMonoallelic and biallelic TTN truncating variants (TTNtv) may be responsible for a wide spectrum of musculoskeletal and cardiac disorders with different age at onset. Although the prevalence of heterozygous TTNtv is relatively high in the general population, cardiac phenotyping (mainly cardiomyopathies, CMPs) in biallelic titinopathy has rarely been described in children.MethodsWe reviewed the medical records of pediatric patients with biallelic TTNtv and cardiac involvement. Clinical exome sequencing excluded pathogenic/likely pathogenic variants in major CMP genes.ResultsFive pediatric patients (four male) with biallelic TTNtv were included. Major arthrogryposis multiplex was observed in four patients; no patient showed intellectual disability. At a cardiac level, congenital heart defects (atrial and ventricular septal defects, n = 3) and left ventricular non-compaction (n = 1) were reported. All patients had dilated cardiomyopathy (DCM) diagnosed at birth in one patient and at the age of 10, 13, 14, and 17 years in the other four patients. Heart rhythm monitoring showed tachyarrhythmias (premature ventricular contractions, n = 2; non-sustained ventricular tachycardia, n = 2) and nocturnal first-degree atrio-ventricular block (n = 2). Cardiac magnetic resonance (CMR) imaging was performed in all patients and revealed a peculiar late gadolinium enhancement distribution in three patients. HyperCKemia was present in two patients and end-stage heart failure in four. End-organ damage requiring heart transplantation (HT) was indicated in two patients, who were operated on successfully.ConclusionBiallelic TTNtv should be considered when evaluating children with severe and early-onset DCM, particularly if skeletal and muscular abnormalities are present, e.g., arthrogryposis multiplex and congenital progressive myopathy. End-stage heart failure is common and may require HT.

show abstract

Section: Discussionmentioning

confidence: 99%

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

Baban

Cicenia

Magliozzi

et al. 2023

Front. Cardiovasc. Med.

Self Cite

View full text Add to dashboard Cite

show abstract

“…Imprinted genes regulated by epigenetic modifications are essential for normal embryonic development. Diverse selected genes such as MYH7, GATA4, NKX2-5, and TBX5 are involved in this phenotypic spectrum, and they may undergo modifications from lncRNAs (Baban et al, 2022). Taking some examples, in ventricular septal defects (VSD), lncR-Meg3 was found to be directly targeted by miR-7-5p and significantly inhibited autophagy through EGFR signaling pathway (Cao et al, 2019).…”

Section: Othersmentioning

confidence: 99%

The multifaceted biology of lncR-Meg3 in cardio-cerebrovascular diseases

Liu²,

Fu³

et al. 2023

Front. Genet.

View full text Add to dashboard Cite

Cardio-cerebrovascular disease, related to high mortality and morbidity worldwide, is a type of cardiovascular or cerebrovascular dysfunction involved in various processes. Therefore, it is imperative to conduct additional research into the pathogenesis and new therapeutic targets of cardiovascular and cerebrovascular disorders. Long non-coding RNAs (lncRNAs) have multiple functions and are involved in nearly all cellular biological processes, including translation, transcription, signal transduction, and cell cycle control. LncR-Meg3 is one of them and is becoming increasingly popular. By binding proteins or directly or competitively binding miRNAs, LncR-Meg3 is involved in apoptosis, inflammation, oxidative stress, endoplasmic reticulum stress, epithelial-mesenchymal transition, and other processes. Recent research has shown that LncR-Meg3 is associated with acute myocardial infarction and can be used to diagnose this condition. This article examines the current state of knowledge regarding the expression and regulatory function of LncR-Meg3 in relation to cardiovascular and cerebrovascular diseases. The abnormal expression of LncR-Meg3 can influence neuronal cell death, inflammation, apoptosis, smooth muscle cell proliferation, etc., thereby aggravating or promoting the disease. In addition, we review the bioactive components that target lncR-Meg3 and propose some potential delivery vectors. A comprehensive and in-depth analysis of LncR-Meg3’s role in cardiovascular disease suggests that targeting LncR-Meg3 may be an alternative therapy in the near future, providing new options for slowing the progression of cardiovascular disease.

show abstract

“…Cardiomyopathies cause similar disease burdens for both children and adults and often lead to heart transplantation [2,33,34]. The prevalence estimates range from up to 1 per 100 in CHD, to 1 of 250 in dilated cardiomyopathy (DCM) [2,35], and 1 per 500 in hypertrophic cardiomyopathy (HCM). While we previously thought that CHD and cardiomyopathies were separate entities, the overlap between them has become clearer as our understanding of genetics expands [2,35].…”

Section: Introductionmentioning

confidence: 99%

“…CHD and cardiomyopathies may occur independently or in combination with other systemic issues, like extracardiac congenital malformations, neuromuscular diseases, and inborn errors of metabolism [1,2,4,7,[35][36][37][38][39]. Hence, both CHD and cardiomyopathies can be classified as either isolated or syndromic [4,37].…”

Section: Introductionmentioning

confidence: 99%

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Pidaparti,

Geddes,

Durbin

2024

JCM

View full text Add to dashboard Cite

Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.

show abstract

Genetics in Congenital Heart Diseases

Cited by 9 publications

References 99 publications

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

The multifaceted biology of lncR-Meg3 in cardio-cerebrovascular diseases

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Contact Info

Product

Resources

About