Rupture of chordae tendineae in patients with β‐thalassemia

Abstract

Cardiac disease is the primary cause of mortality in beta-thalassemia patients. Except for ventricular dysfunction and pulmonary hypertension that represent the main forms of heart disease in these patients, valvular abnormalities including valvular regurgitation, endocardial thickening and calcification and mitral valve prolapse have also been described. Here we present two patients with thalassemia major and mitral chordal rupture, a previously undescribed abnormality in this population. Pathogenesis of this finding may involve thalassemia-related pseudoxanthoma elasticum-like syndrome, a diffuse elastic tissue defect, which is observed with a notable frequency in these patients and has been associated with numerous cardiovascular complications, including valvular ones.

Influence of iron chelators on myocardial iron and cardiac function in transfusion‐dependent thalassaemia: a systematic review and meta‐analysis

“…These cardiac complications in regularly transfused patients are a culmination of two factors: (i) the human body has a limited ability to excrete excess iron (Fassos et al , 1996; Hershko et al , 2005) and (ii) iron deposits in the heart are detectable when the liver and spleen iron stores are already full and are thus indicative of advanced disease (Johnston et al , 1989). The cardiovascular effects of the myocardial iron deposits are extensive and include endothelial dysfunction (Gaenzer et al , 2002), increased heart wall thickness (Aessopos et al , 2004), atherosclerosis (Meyers, 2000), valvular diseases (Farmakis et al , 2004; Wu et al , 2004), coronary artery disease (Sonakul et al , 1988; Mariotti et al , 1993; Hahalis et al , 2005), heart failure (Kremastinos et al , 2001; Schwartz et al , 2002; Hahalis et al , 2005), arrhythmias (Kucukosmanoglu et al , 2002; Borgna‐Pignatti et al , 2004) pulmonary artery hypertension (Aessopos et al , 2007) and disturbed lipid metabolism (Al‐Quobaili & Abou Asali, 2004; Chrysohoou et al , 2004).…”

Imaging manifestations of acquired elastopathy resembling pseudoxanthoma elasticum in patients with beta thalassaemia major and sickle cell disease

“…Mitral valve prolapse is another well‐described association . There have also been reports of rupture of chordae tendinae with mitral regurgitation . We had two patients with mitral regurgitation in our group, one of whom had rupture of chordae tendinae confirmed at surgery (Fig.…”

“…Cardiac complications rank among the leading causes of death in BTM. Left ventricular dysfunction and cardiac failure, resulting primarily from iron overload, is a major feature of BTM whereas pulmonary hypertension and right ventricular failure seem more common in beta thalassaemia intermedia …”

“…Valvular heart disease is also well described in BTM, with a general consensus in the literature that this is most likely to be part of the spectrum of PXE‐related changes . Valve leaflet thickening and calcification usually of the aortic or mitral valves result in regurgitation and occasionally aortic stenosis .…”

“…Valve leaflet thickening and calcification usually of the aortic or mitral valves result in regurgitation and occasionally aortic stenosis . Mitral valve prolapse is another well‐described association . There have also been reports of rupture of chordae tendinae with mitral regurgitation .…”