Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance
Familial occurrence of isolated right ventricular hypoplasia
β Scribed by Chessa, Massimo; Redaelli, Sofia; Masszi, George; Iascone, Maria; Carminati, Mario
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 8 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000228)90:5<356::aid-ajmg2>3.0.co;2-c
No coin nor oath required. For personal study only.
β¦ Synopsis
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.
π SIMILAR VOLUMES
We read with interest the paper by Becker et al. [1996] reporting the occurrence of congenital heart defect (CHD) in a large series of relatives of children with transposition of the great arteries (TGA). The overall recurrence risk of CHD in sibs of the probands was 0.82%, ranging from 0.27% to 2%
Fig. 1. Pedigrees of two families of patients with INVM, showing recurrence of INVM in brother and sister in one family (A), and parental consanguinity in the other (B).
A case-control study using data from the Baltimore-Washington Infant Study (BWIS) examined possible paternal risk factors in the etiology of isolated membranous ventricular septal defects (VSD). There were 641 total VSD case infants and 3,549 randomly selected control infants ascertained between 198
**Theyβll stop at nothing to protect a child.** Ever since he escaped his fatherβs biker gang, sheriffβs deputy Brady Wyatt has never looked back. Then Cecilia Mills asks Brady to help her hide a child from the delinquent crew. But when threats impact the safety of the makeshift family, will th