Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

Abstract

Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS.

Keywords

Klinefelter syndrome - tetralogy of Fallot - congenital diaphragmatic hernia

• References

• 1 Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter Syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88 (2) 622-626
• 2 McGivern MR, Best KE, Rankin J , et al. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed 2015; 100 (2) F137-F144
• 3 Gautier M, Nouaille J. 2 cases of Klinefelter's syndrome associated with a tetralogy of Fallot. (Routine study of Barr's corpuscle in 210 infants with congenital cardiopathies). Arch Fr Pediatr 1964; 21: 761-763
• 4 Fricke GR, Mattern HJ, Schweikert HU, Schwanitz G. Klinefelter's syndrome and mitral valve prolapse. an echocardiographic study in twenty-two patients. Biomed Pharmacother 1984; 38 (2) 88-97
• 5 Pasquali D, Arcopinto M, Renzullo A , et al. Cardiovascular abnormalities in Klinefelter syndrome. Int J Cardiol 2013; 168 (2) 754-759
• 6 Taheri SM, Kadir RA. Congenital diaphragmatic hernia and Klinefelter's syndrome. J Obstet Gynaecol 2009; 29 (8) 763-764
• 7 Valdez CM, Altmayer SP, Faria AE , et al. Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report. Sao Paulo Med J 2014; 132 (5) 311-313
• 8 Wynn J, Yu L, Chung WK. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med 2014; 19 (6) 324-330
• 9 Rauch R, Hofbeck M, Zweier C , et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010; 47 (5) 321-331