Recent advances in understanding the genetic causes and anatomic subtypes of cardiac defects have revealed new links between genetic etiology, pathogenetic mechanisms and cardiac phenotypes. Although the same genetic background can result in different cardiac phenotypes, and similar phenotypes can be caused by different genetic causes, researchers’ effort to identify specific genotype–phenotype correlations remains crucial. In this review, we report on recent advances in the cardiac pathogenesis of three genetic diseases: Down syndrome, del22q11.2 deletion syndrome and Ellis–Van Creveld syndrome. In these conditions, the frequent and specific association with congenital heart defects and the recent characterization of the underlying molecular events contributing to pathogenesis provide significant examples of genotype–phenotype correlations. Defining these correlations is expected to improve diagnosis and patient stratification, and it has relevant implications for patient management and potential therapeutic options.

Cardiac defects and genetic syndromes: old uncertainties and new insights / Calcagni, G.; Pugnaloni, F.; Digilio, M. C.; Unolt, M.; Putotto, C.; Niceta, M.; Baban, A.; Sparascio, F. P.; Drago, F.; De Luca, A.; Tartaglia, M.; Marino, B.; Versacci, P.. - In: GENES. - ISSN 2073-4425. - 12:7(2021), p. 1047. [10.3390/genes12071047]

Cardiac defects and genetic syndromes: old uncertainties and new insights

Calcagni G.
;
Pugnaloni F.
Writing – Original Draft Preparation
;
Unolt M.;Putotto C.;Niceta M.;Marino B.;Versacci P.
2021

Abstract

Recent advances in understanding the genetic causes and anatomic subtypes of cardiac defects have revealed new links between genetic etiology, pathogenetic mechanisms and cardiac phenotypes. Although the same genetic background can result in different cardiac phenotypes, and similar phenotypes can be caused by different genetic causes, researchers’ effort to identify specific genotype–phenotype correlations remains crucial. In this review, we report on recent advances in the cardiac pathogenesis of three genetic diseases: Down syndrome, del22q11.2 deletion syndrome and Ellis–Van Creveld syndrome. In these conditions, the frequent and specific association with congenital heart defects and the recent characterization of the underlying molecular events contributing to pathogenesis provide significant examples of genotype–phenotype correlations. Defining these correlations is expected to improve diagnosis and patient stratification, and it has relevant implications for patient management and potential therapeutic options.
2021
congenital heart disease; del22q11 deletion syndrome; Down syndrome; Ellis–Van Creveld syndrome; genetic syndrome
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Cardiac defects and genetic syndromes: old uncertainties and new insights / Calcagni, G.; Pugnaloni, F.; Digilio, M. C.; Unolt, M.; Putotto, C.; Niceta, M.; Baban, A.; Sparascio, F. P.; Drago, F.; De Luca, A.; Tartaglia, M.; Marino, B.; Versacci, P.. - In: GENES. - ISSN 2073-4425. - 12:7(2021), p. 1047. [10.3390/genes12071047]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1569618
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