Diagnostic approach and differential diagnosis in patients with hypertrophied left ventricles

In daily clinical practice, cardiologists frequently encounter patients demonstrating left ventricular hypertrophy (LVH) of initially unknown origin. The exact diagnosis and differentiation of ‘pathological’ LVH—which occurs in, for example, hypertensive heart disease (HHD), hypertrophic cardiomyopathy (HCM), myocardial storage/infiltrative disease, or systemic diseases such as mitochondrial myopathy—from ‘physiological’ LVH (which occurs in athletes) is of paramount therapeutic and prognostic value. However, determination of the underlying aetiology of LVH—which is frequently defined by a left ventricular (LV) wall thickness of at least 13 mmw1 w2—still constitutes a challenging and critical clinical problem. Hence, this article will focus on the current diagnosis of both common as well as rare (non-valvular) diseases that are associated with LVH. The diagnostic armamentarium for the work-up of LVH has increased greatly over the past years. Today, non-invasive imaging modalities such as cardiovascular magnetic resonance (CMR) allow a detailed and comprehensive work-up of hypertrophied hearts and enable the non-invasive and safe diagnosis of the underlying origin in various cardiovascular diseases.1 Moreover, invasive endomyocardial biopsy (EMB) techniques have been refined and allow a safe and targeted sampling of biopsy specimens from both the LV and right ventricular (RV) myocardium with sophisticated post-procedural techniques, allowing a comprehensive histopathological work-up of such specimens with subsequent exact diagnosis.2 w3 However, such a sophisticated but also expensive array of techniques forces the clinician to use these tools carefully and rationally. In order to achieve a straightforward diagnosis in a patient with LVH, a holistic and systematic approach with a stepwise targeted selection of appropriate diagnostic techniques is required. The most important key to a straightforward diagnosis is still the patient's history with a major focus on his/her family history. For example, an athlete's heart in an obviously inactive patient with LVH is quite unlikely. The age of onset of clinical …