during a period of four years between june, is, 1988 to june, is, 1992 one hundred and fourteen patients with congestive heart failure (chf) were admitted to the pediatric department of taleghani general hospital. during the above period, 192 patients with heart disease were hospitalized at this department and chf was the cause of admission in 59.4% of them. congenital heart disease (cho) was t...

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...

background and objective: congenital heart disease (chd) is the most form of cardiovascular disease in children. chd have different presentations, from defects that progress asymptomatically to those with significant symptoms and high mortality. this study was performed to highlight the importance of signs and symptoms to diagnosis of chd neonates. materials & methods: this descriptive an...

We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in PLD1. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of family...

Background and Objective: Congenital heart disease (CHD) is the most form of cardiovascular disease in children. CHD have different presentations, from defects that progress asymptomatically to those with significant symptoms and high mortality. This study was performed to highlight the importance of signs and symptoms to diagnosis of CHD neonates. Materials & Methods: This descriptive analyt...

Introduction Congenital left ventricular apical diverticulum is a very uncommon cardiac malformation.1-5 It is always associated with midline thoraco-abdominal defects and other heart malformations.1,2,6 All patients with a midline thoraco-abdominal defect and a pulsatile mass should be evaluated carefully to rule out this anomaly. In symptomatic patients, medical and surgical treatment can rel...

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood t...