Familial partial atrioventricular septal defect in four related kindreds: case series and review of the literature


The Cardiothoracic Surgeon, vol.30, pp.1-4, 2022 (ESCI) identifier

  • Publication Type: Article / Case Report
  • Volume: 30
  • Publication Date: 2022
  • Doi Number: 10.1186/s43057-022-00071-w
  • Journal Name: The Cardiothoracic Surgeon
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.1-4
  • Keywords: Congenital heart defects, Atrial septal defect ostium primum, Partial atrioventricular septal defect, CONGENITAL HEART-DISEASE, CONSANGUINITY, MUTATION, RISK
  • Yozgat Bozok University Affiliated: Yes


Background Atrioventricular septal defects are common congenital heart defects and comprise a spectrum of anomalies, these defects were described in few pedigrees suggesting a familial pattern of inheritance, and they are more common in patients with chromosomal abnormalities. The familial occurrence of this particular type of congenital heart disease is uncommon and few cases have been identified as partial atrioventricular septal defect in adults apart from other chromosomal abnormalities. Case presentation We report four cases of adult females who were diagnosed with partial atrioventricular septal defect in four related families, our patients do not have the morphology of Down syndrome. Conclusions Further researches on genotyping such patients might contribute to our knowledge regarding this particular cardiac malformation.