Objectives This study is an effort to bridge the gap regarding the data of prevalence of coronary anomalies in South Asian countries by utilizing coronary CT angiography.MethodsThis is a cross sectional, descriptive stud...
Fabry disease is a genetic lysosomal storage disease (X-linked inheritance), also known as Anderson Fabry disease. It is a lifelong progressive disease, and it develops in patients with the lack of lysosomal enzyme alpha...
Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy due to abnormal morphogenesis of the endocardium and myocardium that occurs in early stages of foetal life. Given the increased risk of sudden cardia...
Pulmonary arterial hypertension (PAH) is a rare disease with a high mortality and complex pathomechanism. Recent studies suggest an important role of genetic factors in the development of PAH. It was shown that patients...
Brugada syndrome is an autosomal dominant genetic disease with variable expression characterized by abnormal electrocardiographic findings – right bundle branch block and ST-segment elevation in the anterior precordial l...
The prevalence of coronary artery anomalies on CT scan; Experience from a tertiary care center in Pakistan (RCD code: I-1C.1)
Objectives This study is an effort to bridge the gap regarding the data of prevalence of coronary anomalies in South Asian countries by utilizing coronary CT angiography.MethodsThis is a cross sectional, descriptive stud...
Clinical manifestations and treatment of Anderson-Fabry disease in a middle age man (RCD code: III-2B.2a)
Fabry disease is a genetic lysosomal storage disease (X-linked inheritance), also known as Anderson Fabry disease. It is a lifelong progressive disease, and it develops in patients with the lack of lysosomal enzyme alpha...
Isolated left ventricular noncompaction in an asymptomatic althlete (RCD code: III-5A.1.0)
Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy due to abnormal morphogenesis of the endocardium and myocardium that occurs in early stages of foetal life. Given the increased risk of sudden cardia...
Genetics and genetic testing in pulmonary arterial hypertension
Pulmonary arterial hypertension (PAH) is a rare disease with a high mortality and complex pathomechanism. Recent studies suggest an important role of genetic factors in the development of PAH. It was shown that patients...
A 33-year-old man after sudden cardiac arrest as a first manifestation of Brugada syndrome (RCD code: V‑1A.1)
Brugada syndrome is an autosomal dominant genetic disease with variable expression characterized by abnormal electrocardiographic findings – right bundle branch block and ST-segment elevation in the anterior precordial l...