Heart failure: Diagnosis of rare causes

Which patients with heart failure should undergo a thorough diagnosis of rare causes of heart failure such as myopathy or storage diseases?

Harriette Van Spall, MD: The prevalence of coronary artery disease is high in people with heart failure and we typically rule out coronary ischemia through either invasive or noninvasive means. We also look at the morphology of the left ventricle (LV) to see if there is evidence of prior infarction, or if the left ventricle is thickened and appears infiltrated, or if there is evidence on functional imaging that there is hypertrophic cardiomyopathy, for example. We consider the patients, their age, their presentation, and their family history to get insight into what the possible etiologies might be. We investigate further based on the risk profile of the patients, the functional imaging, and sometimes the involvement of other organ systems that might suggest a systemic disease that also is affecting the heart.

But in somebody who has coronary risk factors, who has evidence of LV dysfunction that is in a coronary vascular distribution, and that has documented coronary disease, you do not need to investigate for some of the more unusual causes. It is a matter of clinical profile but also functional imaging and then the involvement of other organ systems.