Key result
A 1-day-old male child and his 34-year-old father were found to have isolated right ventricular hypoplasia with atrial septal defect, suggesting an autosomal dominant mode of inheritance.
Case Report (n=2)
This case report suggests an autosomal dominant mode of inheritance for the rare congenital anomaly of isolated right ventricular hypoplasia.
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May suggest autosomal dominant inheritance in isolated right ventricular hypoplasia; hypothesis-generating and requires validation in additional families.
Isolated right ventricular hypoplasia is a rare congenital anomaly. This condition is usually associated with a communication between the atria in the form of a patent foramen ovale or secondum atrial septal defect. We describe a familial occurrence of this rare disease. A 1-day-old male child and his 34-year-old father were found to have isolated right ventricular hypoplasia with atrial septal defect. An autosomal dominant mode of inheritance is likely for this rare congenital anomaly.
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Chessa et al. (2000) conducted a case report in Isolated right ventricular hypoplasia (n=2). Familial occurrence was evaluated on Presence of isolated right ventricular hypoplasia with atrial septal defect. A 1-day-old male child and his 34-year-old father were found to have isolated right ventricular hypoplasia with atrial septal defect, suggesting an autosomal dominant mode of inheritance.
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