Arch Cardiovasc Imaging. In Press(In Press):e58353. doi: 10.5812/acvi.58353.

Published online 2016 November 30. Case Report Keratoglobus Associated with Hypertrophic Cardiomyopathy: A Case Report of a Concomitant Disorder of Heart and Eye Azin Alizadehasl,1 Anita Sadeghpour,2 Nehzat Akiash,3,* Mahdi Peighambari,4 and Alireza Alizadeh

Ghavidel5 1Associate Professor of Cardiology, Fellowship of Echocardiography, Rajaie Cardiovascular Medical and Research Center, Echocardiography Research Center, Tehran, Iran 2Professor of Cardiology, Fellowship of Echocardiography, Echocardiography Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran 3Assistant Professor of Cardiology, Fellowship of Echocardiography, Atherosclerosis Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran 4Associate professor of Cardiology, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran 5Professor of Cardiac Surgery, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, IR Iran

*Corresponding author: Nehzat Akiash, Assistant Professor of Cardiology, Fellowship of Echocardiography, Atherosclerosis Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Tel: +98-9124196588, Fax: +98-2189779503, E-mail: [email protected] Received 2016 August 30; Revised 2016 October 11; Accepted 2016 November 12.

Abstract

A 30-year-old woman was referred to our department for a cardiology visit. She had a medical history of ophthalmologic disor- ders. Her chief complaints were dyspnea, lightheadedness, and fainting after the Valsalva maneuver. Physical examination showed systolic murmurs at the left upper sternal border as well as corneal thinning and bulging in the 2 eyes. Transthoracic echocardio- graphy revealed local significant hypertrophy in the base of the interventricular septum with significant left ventricular outflow obstruction and severe mitral regurgitation.

Keywords: Keratoglobus, Hypertrophic Cardiomyopathy, LVOT Obstruction

1. Introduction 1B, yellow arrow) with a turbulent flow during systole in the left ventricular outflow tract (LVOT) (Figure 1C, black Keratoglobus is an ecstasy of both sides of the arrow) and normal thickness in the other segments. Fur- with the pathology of corneal thinning, and this thin- ther, there was localized interventricular septal hypertro- ning is more evident at the peripheral area (1,2). Various phy concomitant with systolic anterior motion of the mi- anomalies such as hearing loss, cardiac disorders, and den- tral valve leaflets, resulting in a dynamic outflow-tract ob- tal anomalies have been reported in association with ker- struction. Doppler study quantified a high LVOT gradi- atoglobus. ent, which clearly exaggerated with provocative maneu- vers (peak pressure gradient = 110 mmHg). Also, left atrial enlargement and severe mitral valve regurgitation (Fig- 2. Case Presentation ure 1C, white arrow) were noted due to the systolic an- terior motion of the mitral valve and also thickening of A 30-year-old woman who worked in a ladies’ hair- the leaflet tips. During 2 hospital admissions, electrocar- dressing salon presented with a history of dyspnea, light- diographic (ECG) monitoring did not record arrhythmias headedness, and fainting after the Valsalva maneuver. Her during episodes of dizziness and lightheadedness. There condition had started 9 months earlier but exacerbated was no significant improvement in the symptoms or the in the preceding 3 weeks. Interestingly, an examination LVOT gradient after full medical treatment, including ad- of the eyes revealed that the keratoglobus in both eyes ministration of β-blockers; the patient was, therefore, con- had resulted in spherical and clearly enlarged eyes (Fig- sidered for cardiac surgery. Cardiac magnetic resonance ure 1A, black arrow). The heart auscultatory finding was imaging confirmed localized hypertrophic cardiomyopa- harsh systolic murmurs at the left upper sternal border, thy. Septal myectomy and mitral valve repair were per- which was increased by the Valsalva maneuver. There was formed. The patient had an uneventful recovery and at 1- no history of premature sudden cardiac death and hyper- year follow-up, she was asymptomatic. Thus, we herein re- trophic cardiomyopathy in her family members. Transtho- ported an association between keratoglobus and an atypi- racic echocardiography showed local significant hypertro- cal form of hypertrophic obstructive cardiomyopathy. phy (septal thickness = about 2.2 cm in the diastolic pe- riod) in the base of the interventricular septum (Figure

Copyright © 2016, Archives of Cardiovascular Imaging. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited. Alizadehasl A et al.

Figure 1. Figure 1

A, Keratoglobus in both eyes resulting in spherical and clearly enlarged eyes; B, transthoracic echocardiography showed local significant hypertrophy in the base of interven- tricular septum; C, Turbulent flow during systole in left ventricular outflow tract (Figure 1C, black arrow), left atrial enlargement and severe mitral valve regurgitation (Figure 1C, white arrow).

3. Discussion irregular and high . Acquired cases

Keratoglobus is a noninflammatory and nonprogres- sive corneal ecstasy which is often bilateral and results in 2 Arch Cardiovasc Imaging. In Press(In Press):e58353. Alizadehasl A et al.

are also seen accompanied by exophthalmia, hyperthy- tal defect, pulmonary artery stenosis, patent ductus arte- roidism, keratopathy, and trauma (1). The keratoglobus riosus, and persistent left superior vena cava present in in- etiology still remains uncertain. Cardiac anomalies have fancy (7). been seen in association with keratoglobus. Due to con- The current case report introduced a patient with the nective tissue disorder with abnormal collagen synthesis concurrency of ocular involvement in the form of ker- in some congenital form of keratoglobus, the possibility of atoglobus and cardiac involvement in the form of hyper- the concurrency of valve problems, leading to prosthetic trophic obstructive cardiomyopathy, which is a rare asso- heart valve replacement, has been reported. Case reports ciated anomaly. have presented an association between keratoglobus and coarctation of the aorta, multiple aneurysm formation References in the ascending aorta, pulmonary artery, and brachio- cephalic artery, patent ductus arteriosus and prolapse of 1. Khakshoor H, Shokoohi Rad S, Eslampoor AR, Askari SA. Modified sur- the mitral valve leaflets (2). There are different syndromes gical epikeratoplasty for keratoglobus: Anatomic and visual findings. J Patient Safe Qual Improv. 2014;2(1):69–72. doi: 10.22038/psj.2014.2098. in which the concurrency of heart and eye problems oc- 2. Ozer PA, Yalniz-Akkaya Z. Congenital keratoglobus with multiple car- curs. Brittle cornea syndrome is an autosomal recessive diac anomalies: a case presentation and literature review. Semin syndrome caused by mutation in ZNF469 and PRDM5 genes. Ophthalmol. 2015;30(4):305–12. doi: 10.3109/08820538.2013.839814. In this syndrome, eye disorders such as progressive ker- [PubMed: 24409942]. 3. Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Mu- atoconus, and keratoglobus and as nier FL, et al. Brittle cornea syndrome: recognition, molecular diagno- well as hearing loss, musculoskeletal and skin problems sis and management. Orphanet J Rare Dis. 2013;8:68. doi: 10.1186/1750- are seen. In this group of patients, mitral valve dysfunc- 1172-8-68. [PubMed: 23642083]. tion and cardiovascular symptoms have been seen, which 4. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012;7:84. shows the need for echocardiography in these patients doi: 10.1186/1750-1172-7-84. [PubMed: 23110709]. (3). Another syndrome, which expresses concurrent mitral 5. Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, et valve involvement with eye problems, is Stickler syndrome. al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005;138A(3):199–207. doi: 10.1002/ajmg.a.30955. This syndrome is a progressive arthro-ophthalmopathy, in [PubMed: 16152640]. which the involvement of the ocular or facial and skeletal 6. Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in pa- systems is clearly visible (4). This syndrome is autosomal tients with Marfan syndrome. Circulation. 2005;111(11):e150–7. doi: dominant. The primary reports revealed that mitral valve 10.1161/01.CIR.0000155243.70456.F4. [PubMed: 15781745]. 7. Yuan SM, Jing H. Marfan’s syndrome: an overview. Sao Paulo Med J. prolapse was common between the patients; nonetheless, 2010;128(6):360–6. doi: 10.1590/S1516-31802010000600009. [PubMed: the subsequent reports demonstrated a reduction in the 21308160]. prevalence of mitral valve involvement (5). In the evalua- 8. Dormand H, Mohiaddin RH. Cardiovascular magnetic resonance tion of these patients, echocardiography is recommended in Marfan syndrome. J Cardiovasc Magn Reson. 2013;15:33. doi: 10.1186/1532-429X-15-33. [PubMed: 23587220]. if the mitral valve involvement is suspected. Marfan syn- 9. Levine RA, Hagege AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa drome is an autosomal dominant disease with a preva- E, et al. Mitral valve disease–morphology and mechanisms. Nat Rev lence of 1 per 3,000 to 5,000 people (6). It is a connective Cardiol. 2015;12(12):689–710. doi: 10.1038/nrcardio.2015.161. [PubMed: tissue disorder first reported in a 5.5-year-old girl in 1896 26483167]. 10. Pepe G, Giusti B, Sticchi E, Abbate R, Gensini GF, Nistri S. Marfan (7). In this syndrome, ocular involvement is seen as ectopia syndrome: current perspectives. Appl Clin Genet. 2016;9:55–65. doi: lentis and the patients predispose to retinal detachment 10.2147/TACG.S96233. [PubMed: 27274304]. (8) and cardiovascular disorders such as mitral (9, 10) and 11. Gu X, He Y, Li Z, Han J, Chen J, Nixon JV. Echocardiographic versus his- aortic valve disease (11), coarctation of the aorta, atrial sep- tologic findings in Marfan syndrome. Tex Heart Inst J. 2015;42(1):30–4. doi: 10.14503/THIJ-13-3848. [PubMed: 25873795].

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