Congenital heart defects in Aarskog syndrome

Abstract

We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non-Japanese cases (2 with congenital heart defects), while of 30 Japanese individuals reported till now, 4 (including ours) had cardiac anomalies. We propose that this combination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated.

Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome

“…16,19),20) Musculoskeletal manifestations of AS including short and broad hands, cutaneous syndactyly, short toes, short stature, and pectus excavatum were apparent in our case. 19,20) All characteristic musculoskeletal anomalies of AS were also apparent in our case. Pathognomonic urogenital anomalies of AS such as cryptorchidism, overriding scrotum, and hypospadias were found in our case as well.…”

“…Pathognomonic urogenital anomalies of AS such as cryptorchidism, overriding scrotum, and hypospadias were found in our case as well. 6,16,19,20) …”

Aarskog syndrome: from prenatal features towards postnataldiagnosis

“…In some boys with Aarskog syndrome a congenital heart defect such as pulmonary stenosis, ventricular septal defect and subvalvular aortic stenosis has been described. 9,10 In the present case, a persistent left superior vena cava was the only cardiac finding. The left-sided superior vena cava (LSVC) is the most frequent abnormality of the systemic venous return and results from failure of involution of the left anterior cardinal vein.…”

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

“…Some joints are hyperextensible. Additional anatomical features include: pulmonary stenosis and ventricular septal defect (VSD) [Fernandez et al, ]; lax abdomen and the umbilicus are said to have a deep depression [Teebi et al, ; Tsukahara and Fernandez, ]. Abnormalities of the CNS including polymicrogyri and seizures have been reported [Fryns and Descheemaeker, ; Kaname et al, ].…”