inroduction: heart failure (hf) is an important cause of morbidity and mortality in the cases of beta-thalassemia major. the purpose of this study was to estimate hf prevalence in these patients and to assess the survivability of those who were treated with intensive chelating therapy.   design and methods: this cross sectional study included 72 beta-thalassemia major cases, the mean age at the...

Holt-Oram syndrome is an autosomal-dominant condition characterized by congenital cardiac and forelimb anomalies. It is caused by mutations of the TBX5 gene, a member of the T-box family that encodes a transcription factor. Molecular studies have demonstrated that mutations predicted to create null alleles cause substantial abnormalities in both the limbs and heart, and that missense mutations ...

cornelia de lange syndrome (cdls) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. the diagnosis of this syndrome is clinical. the patient of the present case report was the second case of cdls from iran ; only a few ca...

The vast majority of patients requiring pacemaker or defibrillator implantation have structurally normal hearts and patients with congenital cardiac abnormalities constitute only a small proportion. The latter can be divided into two groups. The first includes those with undiscovered congenital abnormalities, which do not give rise to symptoms or obvious physical signs, such as dextrocardia, pe...

Cardiac dysfunction is often manifested as arrhythmia, with disruption of the normal periodicity and regularity of electromechanical activity. Cardiac arrhythmias, or abnormalities of cardiac rhythm, are associated with a diverse group of conditions, including congenital, metabolic, structural, physiological, and immunological, and infectious abnormalities. Dysarrhythmia may also be classified ...

Isolated left ventricular (LV) apical hypoplasia is a rare congenital cardiac anomaly which is not accompanied by other cardiac abnormalities, with the exception of two cases. We report a case of a 33-year-old male patient with isolated LV apical hypoplasia combined with infundibular pulmonary stenosis and aortic stenosis. We review a literature focusing on the characteristic magnetic resonance...

HKJGOM 2005; 5 (1) 33 Introduction The most frequent foetal chromosomal abnormalities involve the autosomes 21, 18, 13 and sex chromosomes X and Y. Aneuploidy or alterations in copy number of these chromosomes, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), 45,X (Turner syndrome), 47,XXY (Klinefelter syndrome) and Triploidy (presence of 3 copie...

normal 0 false false false en-us x-none fa background : fahr's disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. no case of fahr's disease with associated cardiac conduction disease has been described in the literature to date. the objective of this case report ...

Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews ...

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term man...