Which of the following is correct for Brugada syndrome -
- Autosomal recessive
- Incomplete penetrance
- Variable expression
- Phenotypic overlap
The heritable arrhythmogenic disorder Brugada syndrome (BrS), a cardiac ion channelopathy is inherited as an autosomal dominant trait characterized by incomplete penetrance, variable expression, and phenotypic overlap.
The gene in which mutations are most commonly found in Brugada syndrome-
SCN5A, the gene encoding the pore-forming alpha subunit of the cardiac sodium channel, is the major susceptibility gene associated with Brugada syndrome.
Most commonly mutated gene in human epilepsy-
SCN1A gene have been identified in patients with Dravet's syndrome (severe myoclonic epilepsy of infancy), making this the most commonly mutated gene in human epilepsy.
SCN5A gene encodes for sodium channel –
SCN5A, the gene encoding the pore-forming alpha subunit of the cardiac sodium channel, is the major susceptibility gene associated with BrS. SCN5A is the gene that encodes the cardiac sodium channel NaV1.5.
Which of the following is not a monogenic cardiac disease ?
Premature coronary disease and essential hypertension, type 2 diabetes mellitus, and hyperlipidemia are examples of polygenic disorders.
Which of the following is a more likely to be a loud murmur : > or equal to Grade III?
Majority of heart murmurs are midsystolic and soft (grades I–II/VI).
Asymptomatic or mildly symptomatic patients with valvular heart disease that is anatomically severe should be evaluated periodically at interval of -
Evaluation should be done in every 6 to 12 months, by clinical and noninvasive examinations.
Smooth-muscle cells within the tunica media in all of following derived from neural crest EXCEPT -
Descending Aorta • Smooth-muscle cells within the tunica media of the aortic arch, the ductus arteriosus, and the carotid arteries all derive from neural crest. • By contrast, smooth-muscle within the descending aorta arises from lateral plate mesoderm. • Smooth muscle of the proximal outflow tract arises from the second heart field
Neural crest cells are sensitive to –
Both A and B • Neural crest cells are sensitive to both vitamin A and Folic Acid. • congenital heart disease involving abnormal remodeling of the aortic arch arteries can associate with maternal deficiencies of vitamins.
All of the Endogenous substances produced by endothelial cells cause vasodilation EXCEPT –
Both A and B Endogenous substances produced by endothelial cells - Vasodilation- • Prostacyclin, • Endothelium-derived hyperpolarizing factor, • Nitric oxide (no) • Hydrogen peroxide Vasoconstrictor - Endothelin
All of the following are properties of Endothelial Dysfunction EXCEPT –
Profibrinolytic. Profibrinolytic is a normal function of Endothelium.