Hypertrophic Cardiomyopathy Case Study

Common disease specific presentation

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common identified cause of SCD.16 It is also the most common inherited cardiomyopathy and has prevalence of 0.2% (1 in 500) in the general population.19 It is generally inherited in an autosomal dominant manner, with variable penetrance of the phenotype. Left ventricular hypertrophy can also be acquired, such as that seen in longstanding hypertension, however whether there is an increased risk for SCD is not well understood. Thus, the presentation of children with HCM can range from asymptomatic detected by routine screening to SCD to exertional symptoms such as fatigue, shortness of breath or chest pain.20 HCM can occur at any age but is rare in young children less than 10 years of age; when presenting

Electrocardiograms are abnormal in 75-90% of patients with HCM with abnormalities such as ST changes with T wave inversions, and prominent Q waves especially in the inferior and mid-precordial leads. 22, 23 Non-invasive imaging is important for diagnosis, including echocardiogram and MRI.20

Coronary artery anomalies

The second most common cause of SCD are coronary abnormalities with ectopic origins from aorta (also known as anomalous origin of a coronary artery (AOCA) from the opposite sinus of Valsalva) and the pulmonary trunk (also known as anomalous origin of a coronary artery (ALCAPA) from the pulmonary artery) most commonly.24 In cases of AOCA that cause SCD, the left or right coronary exits from