Heart defects, congenital, and other congenital anomalies (HDCA)was first described in 1994 by Yorifuji et al. in a Japanese family (Yorifuji et al. 1994). The mother of the family had gone through patent ductus arteriosus and atrial septal defect surgery at 19 years of age and was diagnosed with diabetes mellitus (DM) at 28 years old. Her abdominal computed tomography (CT) scan showed hypoplasia of the pancreas. The first two children of the family died shortly after birth without a detailed medical examination. The father of the family did not have any significant diseases. The family’s third child was a boy who died at 2 years and 8 months. His autopsy results showed pancreatic hypoplasia and a microscopic exam revealed atrophy of the islets of Langerhans. Heart defects including transposition of great vessels, ventricular septal defect, pulmonary stenosis, and atrial septal defect were also noted. The fourth offspring of the family had tetralogy of Fallot and was diagnosed with pancreatic hypoplasia at 14 (Yorifuji et al. 1994). Other than the mentioned anomalies, Allen et al. reported other phenotypes like gut developmental anomalies, biliary tract, endocrine, and neurocognitive abnormalities (Allen et al. 2012). Infants may also be born with intrauterine growth restriction (IUGR) and have developmental delays and microcephaly later in life (Balasubramanian et al. 2010; Chao et al. 2015).

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Heart Defects, Congenital, and Other Congenital Anomalies (HDCA)

  • Sepehr Nayebirad

摘要

Heart defects, congenital, and other congenital anomalies (HDCA)was first described in 1994 by Yorifuji et al. in a Japanese family (Yorifuji et al. 1994). The mother of the family had gone through patent ductus arteriosus and atrial septal defect surgery at 19 years of age and was diagnosed with diabetes mellitus (DM) at 28 years old. Her abdominal computed tomography (CT) scan showed hypoplasia of the pancreas. The first two children of the family died shortly after birth without a detailed medical examination. The father of the family did not have any significant diseases. The family’s third child was a boy who died at 2 years and 8 months. His autopsy results showed pancreatic hypoplasia and a microscopic exam revealed atrophy of the islets of Langerhans. Heart defects including transposition of great vessels, ventricular septal defect, pulmonary stenosis, and atrial septal defect were also noted. The fourth offspring of the family had tetralogy of Fallot and was diagnosed with pancreatic hypoplasia at 14 (Yorifuji et al. 1994). Other than the mentioned anomalies, Allen et al. reported other phenotypes like gut developmental anomalies, biliary tract, endocrine, and neurocognitive abnormalities (Allen et al. 2012). Infants may also be born with intrauterine growth restriction (IUGR) and have developmental delays and microcephaly later in life (Balasubramanian et al. 2010; Chao et al. 2015).