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Genetics of Congenital Heart Diseases
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Genetics of Congenital Heart Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 5 July 2024 | Viewed by 4551

Special Issue Editors

Dr. Jiuann-Huey Ivy Lin

E-Mail Website
Guest Editor
1. Department of Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA
2. Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15224, USA
Interests: congenital heart disease; genetics; cardiac neural crest; second heart field; transcription factors; conotruncal anomalies; single ventricle
Special Issues, Collections and Topics in MDPI journals
Dr. Mousumi Moulik

E-Mail Website
Guest Editor
Divisions of Cardiology, and Medical Genetics & Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15260, USA
Interests: cardiovascular genetics; heart failure; cardiomyopathies; cardiology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Congenital heart diseases (CHDs) are the most common birth defect, affecting about 1% of neonates. CHD is the leading cause of morbidity and mortality, affecting approximately 40,000 babies born each year and over 2 million children and adults in the United States. A genetic contribution is strongly implicated in the pathogenesis of CHDs. Copy-number variations and chromosomal anomalies/aneuploidy are found in 8 to 25% of CHD patients. The largest genetic study of CHD from the Paediatric Cardiac Genomics Consortium (PCGC) using whole-exome sequencing identified that 8% of individuals are associated with de novo autosomal dominant variation and 2% of cases are attributed to autosomal recessive variation. The presence of a de novo variant is associated with extracardiac anomalies and worse clinical outcomes such as transplant-free survival and time to extubation after cardiac surgery. There is mounting evidence that therapies targeting the treatment of adult heart failure have been ineffective in the treatment of heart failure in patients with CHD, especially single ventricle physiology patients. It implies different pathomechanisms of congestive heart failure in patients with CHD and structurally normal hearts. Therefore, there is an urgent and increasing need to understand the genetic basis of CHDs for precise diagnosis, identifying at-risk patients before clinical symptoms develop, appropriate management, the determination of prognosis, and estimation of the risk of recurrence. This Special Issue is focused on the genetic contribution to congenital heart defects, including conotruncal anomalies and single ventricle physiology.

Dr. Jiuann-Huey Ivy Lin
Dr. Mousumi Moulik
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • congenital heart disease
  • conotruncal anomalies
  • single ventricle
  • transcription factors
  • primary heart field
  • second heart field
  • cardiac neural crest cells

Published Papers (3 papers)

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Research

12 pages, 1905 KiB  
Article
A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects
by Alexandru Cristian Bolunduț, Florina Nazarie, Cecilia Lazea, Crina Șufană, Diana Miclea, Călin Lazăr and Carmen Mihaela Mihu
Genes 2024, 15(2), 207; https://doi.org/10.3390/genes15020207 - 05 Feb 2024
Viewed by 651
Abstract
Congenital heart defects (CHDs) have had an increasing prevalence over the last decades, being one of the most common congenital defects. Their etiopathogenesis is multifactorial in origin. About 10–15% of all CHD can be attributed to copy number variations (CNVs), a type of [...] Read more.
Congenital heart defects (CHDs) have had an increasing prevalence over the last decades, being one of the most common congenital defects. Their etiopathogenesis is multifactorial in origin. About 10–15% of all CHD can be attributed to copy number variations (CNVs), a type of submicroscopic structural genetic alterations. The aim of this study was to evaluate the involvement of CNVs in the development of congenital heart defects. We performed a cohort study investigating the presence of CNVs in the 22q11.2 region and GATA4, TBX5, NKX2-5, BMP4, and CRELD1 genes in patients with syndromic and isolated CHDs. A total of 56 patients were included in the study, half of them (28 subjects) being classified as syndromic. The most common heart defect in our study population was ventricular septal defect (VSD) at 39.28%. There were no statistically significant differences between the two groups in terms of CHD-type distribution, demographical, and clinical features, with the exceptions of birth length, weight, and length at the time of blood sampling, that were significantly lower in the syndromic group. Through multiplex ligation-dependent probe amplification (MLPA) analysis, we found two heterozygous deletions in the 22q11.2 region, both in patients from the syndromic group. No CNVs involving GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes were identified in our study. We conclude that the MLPA assay may be used as a first genetic test in patients with syndromic CHD and that the 22q11.2 region may be included in the panels used for screening these patients. Full article
(This article belongs to the Special Issue Genetics of Congenital Heart Diseases)
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16 pages, 3172 KiB  
Article
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature
by Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef and Liat Yaniv
Genes 2023, 14(8), 1539; https://doi.org/10.3390/genes14081539 - 27 Jul 2023
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Abstract
Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have [...] Read more.
Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects in the lysosome-associated membrane protein-2 (LAMP2) gene. Numerous different mutations in the LAMP2 protein have been described. Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy and heart failure. Female patients usually present with milder and variable symptoms. This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnormalities with left mild ventricular hypertrophy. Genetic testing revealed an Xq24 microdeletion encompassing the entire LAMP2 gene. Relevant literature was reviewed as a reference for the etiology, diagnosis, treatment and case management. Full article
(This article belongs to the Special Issue Genetics of Congenital Heart Diseases)
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11 pages, 31469 KiB  
Communication
Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development
by Angelo B. Arrigo, Wenjuan Zhu, Kylia A. Williams, Carla Guzman-Moreno, Cecilia Lo and Jiuann-Huey I. Lin
Genes 2023, 14(4), 947; https://doi.org/10.3390/genes14040947 - 21 Apr 2023
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Abstract
Due to the prevalence of congenital heart disease in the human population, determining the role of variants in congenital heart disease (CHD) can give a better understanding of the cause of the disorder. A homozygous missense mutation in the LDL receptor-related protein 1 [...] Read more.
Due to the prevalence of congenital heart disease in the human population, determining the role of variants in congenital heart disease (CHD) can give a better understanding of the cause of the disorder. A homozygous missense mutation in the LDL receptor-related protein 1 (Lrp1) in mice was shown to cause congenital heart defects, including atrioventricular septal defect (AVSD) and double outlet right ventricle (DORV). Integrative analysis of publicly available single-cell RNA sequencing (scRNA-seq) datasets and spatial transcriptomics of human and mouse hearts indicated that LRP1 is predominantly expressed in mesenchymal cells and mainly located in the developing outflow tract and atrioventricular cushion. Gene burden analysis of 1922 CHD individuals versus 2602 controls with whole-exome sequencing showed a significant excess of rare damaging LRP1 mutations in CHD (odds ratio (OR) = 2.22, p = 1.92 × 10−4), especially in conotruncal defect with OR of 2.37 (p = 1.77 × 10−3) and atrioventricular septal defect with OR of 3.14 (p = 0.0194). Interestingly, there is a significant relationship between those variants that have an allele frequency below 0.01% and atrioventricular septal defect, which is the phenotype observed previously in a homozygous N-ethyl-N-nitrosourea (ENU)-induced Lrp1 mutant mouse line. Full article
(This article belongs to the Special Issue Genetics of Congenital Heart Diseases)
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