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[Congenital cardiopathy in a data-based population]
C Magnani1, G Bussolati, L Gambini
1Istituto di Puericultura e Medicina Neonatale, Università di Parma. cmagnani@unipr.it
Acta Bio-Medica De L'Ateneo Parmense : Organo Della Societa Di Medicina E Scienze Naturali Di Parma
|June 27, 2001
Summary
Congenital heart defects (CHD) prevalence increased due to better diagnosis, particularly isolated cases like ventricular septal defects. Sex ratios varied by defect type, and recurrence risk was 2.3%.
Area of Science:
- Cardiology
- Genetics
- Public Health
Context:
- A study surveyed 429,139 births over 18 years in Emilia-Romagna.
- 2,147 newborns with congenital heart defects (CHD) were identified, showing a prevalence of 5 per 1000.
- CHD cases included 1607 isolated defects and 540 with associated anomalies.
Purpose:
- To analyze trends in CHD prevalence and associated factors.
- To investigate the impact of diagnostic advancements on observed CHD rates.
- To examine sex-specific prevalence and recurrence risks for congenital heart defects.
Summary:
- CHD prevalence rose from 3.1 to over 7 per 1000, driven by isolated defects like ventricular septal defect (VSD).
- Improved diagnosis via color-doppler echocardiography likely explains the apparent increase.
- Specific defects showed sex predominance (e.g., aortic stenosis M:F 4.5:1), while VSD had a slight female excess (M:F 0.96:1).
- Recurrence risk for cardiac defects in first-degree relatives was 2.3%, and 3.9% for isolated conotruncal defects.
- Four cases of isolated conotruncal defects had 22q11.2 microdeletion, with one father carrying the deletion without CHD.
Impact:
- Highlights the role of diagnostic technology in epidemiological studies.
- Provides data on sex-specific risks and recurrence for various CHDs.
- Identifies potential genetic links, such as 22q11.2 microdeletion, in specific CHD cases.