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Updated: Feb 11, 2026
Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
[Genetic heterogeneity and complexity of congenital heart defects]
1Orvosi Genetikai Intézet, Szegedi Tudományegyetem, Általános Orvostudományi Kar Szeged, Somogyi B. u. 4., 6720.
Insights
Congenital heart defects (CHDs) are common birth defects. Understanding their genetic causes is crucial for improving diagnosis, prognosis, and family planning for affected individuals.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Congenital heart defects (CHDs) represent the most frequent birth defects, comprising about one-third of all cases.
- CHDs are clinically heterogeneous, ranging in severity and prognosis, and can be isolated or part of broader genetic syndromes.
- While genetic causes are identified in syndromic CHDs, only about 11% of isolated CHDs have a detected genetic origin.
Purpose of the Study:
- To review the current understanding of the genetic basis of congenital heart defects.
- To highlight the advancements in diagnostics and surgical treatments for CHDs.
- To emphasize the importance of genetic insights for patient diagnosis, prognosis, and family planning.
Main Methods:
- Review of conventional cytogenetic and next-generation molecular genetic findings.
- Analysis of genetic alterations in conserved genes critical for cardiogenesis.
- Synthesis of data on syndromic versus isolated forms of CHDs.
Main Results:
- Numerous genetic alterations have been identified in genes regulating cardiogenesis, particularly in syndromic CHDs.
- The genetic etiology remains elusive in a significant proportion of isolated CHDs.
- Improved survival and quality of life for CHD patients due to medical advancements.
Conclusions:
- Understanding the genetics of CHDs is increasingly vital as more patients survive into adulthood.
- Genetic insights are essential for accurate diagnosis, prognosis, and reproductive counseling.
- Further research into the genetic underpinnings of CHDs is warranted.
Abstract:
Congenital heart defects are the most common birth defects, they account for approximately one third of all cases. They are clinically heterogeneous, vary widely in severity, treatability and prognosis and may occur as part of multiple developmental disorders, such as chromosome aberrations, microdeletion syndromes and monogenic diseases, or as isolated defects. Syndromic forms account for 25-40%, isolated forms for 60-75% of all cases. With conventional cytogenetic and next-generation molecular genetic methods, numerous genetic alterations have been identified in evolutionarily highly conserved genes of transcriptional regulators, signaling molecules and structural proteins, which are critical to normal cardiogenesis, mostly in cases with syndromic congenital heart defects. On the other hand, the genetic cause can be detected only in around 11% of isolated heart defects. The survival rate and life quality of patients with congenital heart defects have improved significantly in the last decades thanks to the remarkable development of prenatal, postnatal diagnostics as well as of heart and thoracic surgery of cardiovascular diseases. Since the number of patients, living into adulthood and reproductive age, is constantly increasing, the better understanding of the genetics of congenital heart defects may be crucial for the diagnosis, prognosis and positive family planning of patients. Orv Hetil. 2018; 159(17): 661-670.
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