Heart sounds that don't exist

Question 1

What are the causes of a soft first heart sound (S1)?

Answer 1

Immobile mitral stenosis
Hypodynamic state
Mitral Regurgitation
Long PR interval

Question 2

What are the causes of a split S1?

Answer 2

RBBB
LBBB
Ventricular tachycardia
Ebstein’s anomaly

Question 3

What are the causes of a variable S1?

Answer 3

AF

Complete Heart Block

Question 4

What are the causes of a loud S2?

Answer 4

Hypertension
Tachycardia
ASD

Question 5

What are the causes of a soft/ absent S2?

Answer 5

Severe aortic stenosis

Question 6

What are the causes of a fixed splitting S2?

Answer 6

ASD

Question 7

What are the causes of a wide split S2?

Answer 7

RBBB
Pulmonary stenosis
Mitral regurgitation

Question 8

What are the causes of a single S2?

Answer 8

Severe pulmonary stenosis
Aortic stenosis
Hypertension
Ventricular septal defect
Tetralogy of Fallot
Eisenmenger's syndrome

Question 9

What are the causes of a reversed split S2?

Answer 9

LBBB
Right ventricular pacing
Patent ductus arteriosus
Aortic stenosis

Question 10

What are the causes of S3?

Answer 10

Rapid left ventricular filling (mitral regurgitation, ventricular septal defect), can be normal in children

Question 11

What are the causes of S4?

Answer 11

Filling of stiff left ventricle (left ventricular hypertrophy, amyloid, hypertrophic cardiomyopathy, ischaemia)

Question 12

What are the features and genetics of Xeroderma pigmentosum?

Answer 12

Inherited skin disorder characterised by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiestasis and multiple solar keratosis.

Transmitted in an autosomal recessive manner, xeroderma pigmentosum involves a defect in nucleotide excision repair, leading to deficient repair of DNA damaged by UV radiation and chromosome breakage.

Individuals develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurological abnormalities.

Question 13

What is the pathophysiology of Tay-Sachs Disease?

Answer 13

Fatal disorder in which harmful quantities of ganglioside Gm2 build up in tissues and nerve cells in the brain.

Caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyses the biodegradation of acidic fatty materials known as gangliosides.

Gangliosides are made and biodegraded rapidly in early life as the brain develops.