GENETIC CLUES IN CONGENITAL HEART DISEASES

Alina-Costina Luca and Ioana Alexandra Pădureț
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Alina-Costina Luca: Department of Pediatrics, Faculty of Medicine, Gr. T. Popa' University of Medicine and Pharmacy, Iasi, Romania
Ioana Alexandra Pădureț: Sfânta Maria' Emergency Children's Hospital, Iasi, Romania

SEA - Practical Application of Science, 2022, issue 30, 153-160

Abstract: The frequency of genetic diseases is estimated at approximately 1 in 40 live newborns, including both minor and major disorders. The medico-psycho-social impact of diseases with genetic determinism is important. Although taken individually, genetic diseases are considered rare, cumulatively, they represent such a frequent pathology, that one can rightfully consider genetic anomalies the basis of the majority of currently diagnosable and treatable conditions. This is the hypothesis that underlies the orientation of contemporary medicine towards individualized therapy. Congenital heart malformations associate a high morbidity and mortality potential even as an isolated disease, even more so if they appear in the context of a genetic syndrome. For these reasons, it is particularly important for today's practitioner to know the small clues that should raise a reasonable suspicion for the presence of a genetic syndrome in a patient diagnosed with a congenital heart disease. Dysmorphology is the youngest genetic branch, studying the structural anomalies commonly reffered to as birth defects. It has proven to be an important tool for the modern practitioner when dealing with complex congenital anomalies.

Keywords: Genetic syndromes; Dysmorphology; Congenital heart disease (search for similar items in EconPapers)
Date: 2022
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Persistent link: https://EconPapers.repec.org/RePEc:cmj:seapas:y:2022:i:30:p:153-160

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