Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome

Abstract

Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions. More cardiac surgical procedures are offered to these patients and that has influenced positively their life expectancy for some CHD conditions. Single ventricular anatomy is associated with high mortality in these genetic disorders (49% in T21 and 83%-91% in TS). The goal of this article is to describe the spectrum of CHD, screening guidelines, and cardiac surgical outcomes in patients with T21 or TS with CHD.

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes

“…Because many individuals with Turner syndrome are mosaic, there is a wide range in severity of the associated clinical features. As with Down syndrome, patients with Turner syndrome have higher morbidity and mortality after surgical palliation of single‐ventricle heart disease compared with patients without chromosomal abnormalities …”

“…As with Down syndrome, patients with Turner syndrome have higher morbidity and mortality after surgical palliation of single-ventricle heart disease compared with patients without chromosomal abnormalities. 56,57 Copy number variants Copy number variants are large deletions or duplications of DNA that usually involve at least 100 000 base pairs of DNA but not the full chromosome. They can occur anywhere in the genome but often occur at sites bounded by regions of repeat or low-complexity sequence that allow mismatches during DNA replication, resulting in duplication or loss of the intervening DNA sequence.…”

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“…found no correlation between maternal age and the occurrence of malformation, except in trisomy 21 [8]. Morales estimated that 14-27% of IVC cases are associated with Down syndrome [9]. The association Down syndrome and congenital heart disease is noted in several studies [10,11].…”

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

“…The median age at surgery was 3.3 months for primary AVSD repair and did not differ in patients with Down syndrome (Burstein et al, 2019). Long‐term developmental outcomes at school age do not differ between those with Down syndrome and CHD and those without CHD (Morales‐Demori, ).…”