iatroX Rounds #16
The clues
- 1
A 24-year-old man presents to the GP after having a brief episode of collapse while playing football.
- 2
He describes feeling lightheaded and short of breath on exertion, which has been gradually worsening over several months.
- 3
His father died suddenly at the age of 38, and his sister was recently told she has a heart condition that needs monitoring.
- 4
Physical examination reveals a jerky carotid pulse and a double apical impulse, with a harsh systolic murmur heard at the left sternal edge.
- 5
The systolic murmur is noted to increase in intensity when the patient performs a Valsalva manoeuvre or stands up from a squatting position.
- 6
Echocardiography shows disproportionate thickening of the interventricular septum with a ratio of 1.5 to 1 compared to the posterior wall and systolic anterior motion of the mitral valve.
Hypertrophic obstructive cardiomyopathy is an autosomal dominant genetic disorder characterised by unexplained left ventricular hypertrophy and potential outflow tract obstruction. It is a leading cause of sudden cardiac death in young people and often presents with exertional syncope or dyspnoea.
- Exertional syncope and family history of sudden cardiac death
- Ejection systolic murmur that increases with Valsalva or standing
- Jerky carotid pulse and double apex beat on palpation
- Echocardiographic disproportionate septal thickening and systolic anterior motion of the mitral valve
more Cardiology rounds
for education and entertainment. not medical advice.