Screening for specific etiologies in heart failure patients with left ventricular hypertrophy
O Ratosi, M Schon, J Papp, A Komaromi, T Fuzesi, M K Szilagyi, G Duray, N NyolczasAbstract
Introduction
Heart failure (HF) is a serious public health problem worldwide. While the diagnosis of HF with reduced ejection fraction (HFrEF) has been resolved, and several therapeutic options are available to reduce mortality and morbidity, both the diagnosis and the treatment of HF with mildly reduced ejection fraction (HFmrEF) and HF with preserved ejection fraction (HFpEF) remain challenging. Left ventricular hypertrophy (LVH) can be associated with all phenotypes of HF, however, it is most common in HFpEF. Identifying the underlying etiology of LVH is crucial for treating the disease, as in many cases there are therapeutic options available that have a beneficial effect on the morbidity and/or mortality. Despite its clinical relevance, accurate identification of the etiology of LVH is rarely carried out in daily clinical practice.
Purpose
The aim of our study was to identify specific underlying etiologies of LVH (transthyretin (TTR) amyloidosis, light-chain (AL) amyloidosis, hypertrophic cardiomyopathy (HCM), Fabry disease) for which therapeutic options are available that reduce mortality and/or morbidity and to determine their prevalence.
Method
Since 1 January 2024, 96 consecutive patients with HF and significant LVH (wall thickness at least 14 mm) have been investigated for specific etiologies (TTR amyloidosis, AL amyloidosis, Fabry disease and HCM) at our cardiology department.
Results
The main characteristics of the patients were as follows: mean age: 62.35±13.27 years, mean septal wall thickness: 15.74±3.11 mm; mean posterior wall thickness: 13.80±1.97 mm; NTproBNP: 5844.1±9336.5 pg/ml). Among the patients studied, TTR-amyloidosis was diagnosed in 8 cases (8%), AL-amyloidosis in 2 case (2%), and HCM in 38 cases (40%) (of which 11 were obstructive form). In the remaining group of patients, LVH was caused by aortic vitium in 14 cases (15%) and hypertension in 23 cases (24%). No definitive etiology was found in the setting of LVH in 4 patients with HFpEF, 5 patients with HFrEF and 2 patients with HFmrEF. No patient with Fabry disease was identified in the studied patient population. Six of the eight patients with TTR amyloidosis are receiving tafamidis treatment, while therapy is currently being introduced for the other two. The two patients with AL amyloidosis are receiving appropriate hematological therapy. Nine of the eleven patients with HOCM are receiving mavacamten treatment, while therapy is planned for two others.
Conclusion
Our study results show that in HF with LVH, systematic investigation of the etiology of hypertrophy is crucial, since in a large percentage of patients has specific etiology where the usual treatment of HF is insufficient. In our current study, more than 20% of patients required some form of specific treatment. Based on our results so far, routine screening for Fabry disease is not justified in this patient group.