International Journal of Cardiology 177 (2014) e179–e180

Contents lists available at ScienceDirect

International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard

Letter to the Editor

The burnout stage of an apical hypertrophic cardiomyopathy Daniel Caldeira a,b,⁎, Luís R. Lopes a,c, Inês Cruz a, Ana Rita Almeida a, Gonçalo Morgado a, Catarina Gomes a, Bruno Stuart a, Sofia Almeida a, Luís Brandão a, Hélder Pereira a a b c

Cardiology Department, Hospital Garcia de Orta, Almada, Portugal Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Medicine, University of Lisbon, Clinical Pharmacology Unit, Instituto Medicina Molecular, Lisbon, Portugal Centro de Cardiologia da Universidade de Lisboa, Lisbon, Portugal

a r t i c l e

i n f o

Article history: Received 13 August 2014 Accepted 15 August 2014 Available online 23 August 2014 Keywords: Hypertrophic cardiomyopathy Burnout stage Magnetic resonance Fibrosis Complex genotype

A 66 year-old female with a previous medical history of hypertension and ischemic stroke was admitted in the Emergency Room with persistent regular palpitations. In the admission the patient had normal blood pressure and tachycardia. The remaining physical examination was unremarkable. The electrocardiogram showed ventricular tachycardia, 150 bpm (Fig. 1, Panel A), with an inferior axis and right bundle branch block pattern. Intravenous amiodarone was given resulting in conversion to sinus rhythm with intraventricular conduction delay. The echocardiogram showed a dilated left ventricle with segmental wall motion abnormalities, including akinesia of all apical segments and mid anterior septum and hypokinesia of the remaining middle segments. The systolic function of the left ventricle was severely impaired. Coronary angiography demonstrated the absence of any significant coronary stenoses. Therefore, the patient was presumptively diagnosed with a non-ischemic dilated cardiomyopathy. An electrophysiological study with substrate voltage mapping, using the Ensite NavX system (St. Jude Medical), showed scarred areas prone to arrhythmias. Radiofrequency ablation was performed

in septal and apical zones (Fig. 1, Panel B) targeting local abnormal ventricular potentials. The ventricular tachycardia presented at the admission was no longer inducible after the ablation. However, a poorly tolerated ventricular tachycardia with a different morphology (left bundle branch block) remained inducible. Due to the unexpected large amount of scar and to improve characterization of its distribution and quantification of LV function, a cardiac magnetic resonance was performed, showing left ventricular dilatation with severely impaired systolic function, moderate asymmetric septal hypertrophy and very extensive and transmural fibrosis in the apical and mid segments (Fig. 1, Panels C1, C2 and C3; black arrows point to regions with fibrosis). An apical thrombus was also identified (Fig. 1; Panels C1 and C2; white arrows). After insisting with the family on providing more details on previous medical history and exams, we had access to an echocardiogram done 20 years before, describing an apical hypertrophic cardiomyopathy. The patient was treated with oral anticoagulation, an angiotensinconverting enzyme inhibitor and a mineralocorticoid-receptor antagonist. Beta-blocker or ivabradine was not given due to sinus bradycardia. An implantable cardioverter-defibrillator was implanted for primary prevention of sudden cardiac death. Genetic testing for sarcomere genes showed that the patient was a double heterozygotic carrier of a truncating myosin-binding protein C mutation (MYBPC3; c.2827CNT mutation in exon 27; p.Arg943X), previously described and associated with hypertrophic cardiomyopathy, and a novel beta myosin heavy chain mutation (MYH7; c.2821CNT mutation in exon 23; p.Arg941Cys). In cohort studies, a dilated ‘end-stage’ of the hypertrophic cardiomyopathy phenotype is described as occurring in 5–10% of the patients [1]. The existence of multiple mutations has been growingly recognized as associated with a worse prognosis, including a higher number of risk factors for sudden cardiac death and/or evolution to a dilated stage [2–4]. The most remarkable and original feature of this case was the extreme evolution from an apical hypertrophic phenotype to a radical burnout stage, characterized by a very large mass of transmural fibrosis, that replaced the previously hypertrophied apical segments. Conflict of interest

⁎ Corresponding author at: Serviço de Cardiologia, Hospital Garcia de Orta, Avenida Torrado da Silva, 2805-267 Almada, Portugal. E-mail address: [email protected] (D. Caldeira).

http://dx.doi.org/10.1016/j.ijcard.2014.08.092 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.

The authors report no relationships that could be construed as a conflict of interest.

e180

D. Caldeira et al. / International Journal of Cardiology 177 (2014) e179–e180

Fig. 1. Panel A: 12-lead electrocardiogram in the admission, showing the ventricular tachycardia. Panel B: Electrophysiological study with substrate voltage mapping of left ventricle. Gray areas correspond to regions without voltage (fibrosis), and purple areas correspond to healthy tissue. Panel C shows the cardiac MR: (C1) four chambers view; (C2) two chambers view; (C3) black arrows: fibrosis; white arrows: thrombus.

References [1] Olivotto I, Cecchi F, Poggesi C, Yacoub MH. Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging. Circ Heart Fail 2012 Jul 1;5:535–46. [2] Girolami F, Ho CY, Semsarian C, et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 2010;55:1444–53.

[3] Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet 2005;42:e59. [4] Lopes LR, Rahman MS, Elliott PM. A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations. Heart 2013;99:1800–11.

The burnout stage of an apical hypertrophic cardiomyopathy.

The burnout stage of an apical hypertrophic cardiomyopathy. - PDF Download Free
455KB Sizes 1 Downloads 8 Views