We read the interesting paper by Freeman et al. [1998] on the prevalence and types of congenital heart disease (CHD) in individuals with Down syndrome. Among 100 patients with trisomy 21 and CHD the authors, using an anatomical classification, reported 45 cases of atrioventricular septal defect (AVS
Reply to the letter to the editor by Marino and Digilio??Inlet ventricular septal defect is not a partial atrioventricular septal defect?
β Scribed by Saker, Denise M.; Freeman, Sallie
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 1 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991119)87:2<196::aid-ajmg14>3.0.co;2-s
No coin nor oath required. For personal study only.
β¦ Synopsis
Digilio raise an important point in their letter [Marino and Digilio, 1997]. The classification of congenital heart disease (CHD) remains a subject of ongoing discussion, made all the more fertile by the various possible approaches, e.g., developmental, anatomic, and, increasingly, genetic.
Inlet ventricular septal defect (VSD) has been described as part of the spectrum of atrioventricular septal defects (AVSD), specifically by Allwork [1982], Anderson [1988], and Wenink and Zevallos [1988]. We note that Anderson writes from an anatomic perspective, Weinink and Zevallos take a developmental approach, and Allwork draws correlations between anatomical and embryological observations. None of these authors suggest that an inlet VSD must be associated with an ostium primum atrial septal defect (ASD) to be considered a type of AVSD.
As yet, no definitive classification of CHD is universally accepted. To achieve this aim, we may ultimately require the additional understanding that molecular genetics will provide.
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