Total Anomalous Pulmonary Venous Connection in a Sibling

  • Woo-Yeon Choi, Department of pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwang-Ju, Korea, Korea
  • Young-Jin Lee, Department of pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwang-Ju, Korea, Korea
  • Sun-Ju Park, Department of pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwang-Ju, Korea, Korea
  • Young-Kuk Cho, Korea
  • Jae-Sook Ma, Korea

    • Objective : Total anomalous pulmonary venous connection (TAPVC) is a rare anomaly, and the risk of recurrence in siblings has been considered to be negligible. A few reports of familial recurrence, however, have been published. We report TAPVC to superior vena cava (SVC) and coronary sinus in a sibling.
    Results
    case1. : The first baby of non-consanguineous parents was admitted to hospital because of tachypnea at birth date. Echocardiogram revealed TAPVC to SVC (Fig. 1). An operation was performed the next day. The vertical vein was ligated and an anastomosis was made between the common pulmonary venous chamber and the left atrium. At follow-up at 5 years of age, he was healthy.
    case 2. :The second baby in the family also admitted to hospital because of irritability at 1 month of age. Echocardiogram revealed TAPVC to coronary sinus (Fig. 2). Unroofing the coronary sinus and patch closure of the atrial septum were performed the next day. At follow-up at 2 months of age, he was healthy.
    Conclusion : Autosomal dominant inheritance with incomplete penetrance or rather an autosomal dominant gene mutation parents have been suggested as a possible pattern of inheritance. The connection between pulmonary venous return and some portions of the primitive foregut venous plexus are accidental. That is shown by the fact that even in siblings different types of venous return are seen. Even slight abnormalities on chest x-ray should alert the pediatrician to the possibility of TAPVC, especially in relatives of known cases.