Case history
Case history #1
A 21-year-old active college student with no past medical history has sudden loss of consciousness 1 hour into a game of basketball. CPR is administered by bystanders. On the arrival of an emergency medical professional, he regains consciousness. The family history is significant for a murmur in his father and paternal grandmother. Physical examination reveals a systolic ejection murmur that increases in intensity when going from a supine to standing position and disappears with squatting.
Case history #2
A 60-year-old woman presents with progressive dyspnoea on exertion over the last 2 months. She is otherwise well, with no risk factors for ischaemic heart disease. Family history is significant for a cousin who died suddenly in his youth, but is otherwise unremarkable. Physical examination reveals a prominent jugular a-wave and a double apical impulse. There are no murmurs audible. An S4 is present. The remainder of the examination is normal.
Other presentations
Other common symptoms include: chest pain, palpitations, postural light-headedness, resuscitated sudden death, and fatigue.[4] Patients may remain asymptomatic and be diagnosed solely on the basis of family screening. Diagnosis may also occur as a consequence of incidental findings (e.g., an abnormal ECG in the context of community or work-related medical check-ups or sports pre-participation screening; the incidental detection of a murmur; or increasingly, genotype-first identification as a result of secondary findings during research or clinical sequencing for other indications).
In secondary and tertiary care, patients with hypertrophic cardiomyopathy may present to the heart failure clinic with symptoms of heart failure; the arrhythmia clinic with early-onset conduction disease, atrial arrhythmia, or ventricular arrhythmia; or the emergency department with suspected myocarditis.[1]
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