Rapitful Shqip

Do you know of any eponymous syndromes linked to pulmonary stenosis ?  • Noonan's syndrome: short stature, ptosis, downward slanting eyes, wide-spaced eyes (hypertelorism), low-set ears, webbed neck, mental retardation and low posterior hairline. About two thirds of patients with Noonan's syndrome have pulmonary stenosis due to valve dysplasia. • Watson's syndrome: cafe-au-lait spots, mental retardation and pulmonary stenosis. • Williams syndrome: infantile hypercalcaemia, elfin facies and mental retardation, in addition to supravalvular pulmonary stenosis. Subvalvular pulmonary stenosis, which is caused by the narrowing of the right ventricular infundibulum or sub-infundibulum, usually occurs in association with a ventricular septal defect.

What are the types of pulmonary stenosis ? • Valvular. • Subvalvular: infundibular and subinfundibular. • Supravalvular.

How is the severity of pulmonary valve stenosis determined ?  • Mild: it' the valve area is larger than 1.0 cm2 per square metre, the transvalvular gradient is less than 50 mmHg, or the peak right ventricular systolic pressure is less than 75 mmHg. • Moderate: if the valve area is 0.5-1.0 cm2 per square metre, the transvalvular gradient is 50-80 mmHg, or the right ventricular systolic pressure is 75-100 mmHg. • Severe: if the valve area is less than 0.5 cm2 per square metre, the transvalvular gradient is more than 80 mmHg, or the right ventricular systolic pressure is more than 100 mmHg.

What is the normal area of the pulmonary valve ?  The area of the pulmonary valve orifice in a normal adult is about 2.0 cm2 per square metre of body surface area, and there is no systolic pressure gradient across the valve.

What is the underlying cause of pulmonary stenosis ? • Congenital (commonest cause). • Carcinoid tumour of the small bowel.

What happens to the continuous murmur of patent ductus arteriosus (PDA) in pulmonary hypertension ?  First the diastolic murmur, then the systolic murmur, becomes softer and shorter, and P2 increases in intensity.

Mention a few causes of continuous murmurs.   • Venous hum. • Mitral regurgitation murmur with aortic regurgitant murmur. • VSD with aortic regurgitation. • Pulmonary arteriovenous fistula. • Rupture of the sinus of Valsalva. • Coronary arteriovenous fistula. • Arteriovenous anastomosis of intercostal vessels following a fractured rib.

Mention a few causes of a collapsing pulse. Hyperdynamic circulation due to: • Aortic regurgitation. • Thyrotoxicosis. • Severe anaemia. • Paget's disease. • Complete heart block.

What do you know about the Brockenbrough-Braunwald-Morrow sign ?  Diminished pulse pressure in post-extrasystolic beat occurs in hypertrophic cardiomyopathy/aortic stenosis (Circulation 1961: 23: 189-94).

What do you know about the genetics of hypertrophic cardiomyopathy ?  • Hypertrophic cardiomyopathy is an autosomal dominant heart muscle disorder. • Mutations in the gene encoding contractile proteins cause disease in 50-60'7c of patients. • There are mutations in the gene encoding for myofibrillary proteins: at least 9 individual genes have been identified. Beta heavy chain myosin gene mutations are associated with left ventricular outflow obstruction, whereas troponin T mutations are associated with rather modest left ventricular wall thickening, and mutations in myosin binding protein C are associated with onset in late adult life. Arginine gene mutations have a worse prognosis than leucine gene mutations.

Which condition has the most common association with hypertrophic cardiomyopathy ?  Friedreich's ataxia.

What is the most characteristic pathophysiological abnormality in hypertrophic cardiomyopathy ?  Diastolic dysfunction.

What are the complications of hypertrophic cardiomyopathy ? • Sudden death. • Atrial fibrillation. • Infective endocarditis. • Systemic embolization.

How would you investigate a patient with atrial septal defect ?  ECG  • Often has right axis deviation and incomplete right bundle branch block. • In ostium primum defects left axis deviation also occurs, whereas a junctional or low atrial rhythm (inverted P waves in inferior leads) occurs in sinus venosus defects. Chest radiography  • Prominent pulmonary arteries (large pulmonary conus). • A peripheral pulmonary vascular pattern of 'shunt vascularity' (in which the small pulmonary arteries are especially well visualized in the periphery of both lungs). • Small aortic knob. • Enlarged right ventricle and right atrium. • 'Hilar dance' on fluoroscopy. Echocardiography  • Transthoracic echocardiography visualizes ostium secundum and primum defects but usually does not identify sinus venosus defects. • Sensitivity can be enhanced by injecting microbubbles into a peripheral vein. after which the movement across the defect can be seen. • Trans-oesophage

What is Fallot's trilogy ?  Atrial septal defect, pulmonary stenosis and right ventricular enlargement.

What do you know about the embryology of atrial septal defect ?  There are seven septa involved in the partitioning of the heart. Three form passively (i.e. when an area of tissue forms a septum because of the rapid growth of con-tiguous tissue); these include the septum secundum at the atrial septum, the mus-cular portion of the ventricular septum and the aorticopulmonary septum. The actively formed portions of the septa of the heart include the septum of the atrio-ventricular canal, the conal septum and the truncal septum. The atrial septum begins as a passively formed septum; however, active growth from the endocardial cushions completes the septum.

At what age does reversal of the shunt occur ?  Usually after the end of the second decade.

What is Holt-Oram syndrome ?  There is an ostium secundum ASD with a hypoplastic thumb and an accessory phalanx. In addition, the thumb lies in the same plane as the other digits (Br Heart J 1960; 22: 236). The inheritance is autosomal dominant and is associated with mutations to chromosome 12q2 (N Engl J Med 1994; 330:885-91 ).

What is the importance of patent foramen ovale ?  The prevalence of patent foramen ovale is significantly higher in patients with stroke (N Engl J Med 1988; 318: 1148 52).

What do you understand by the term 'patent foramen ovale' ?  In the fetus, the right and left atria communicate with each other through an oblique valvular opening, which is called the foramen ovale. The foramen ovale persists throughout fetal life. After birth, the left atrium receives blood from the lungs and the pressure in this chamber becomes greater than that in the right atrium; this causes the closure of the foramen ovale.