Yamaguchi Syndrome: A Difficult Diagnosis in the Differential Diagnosis of Acute Coronary Syndrome

Abstract

Apical hypertrophic cardiomyopathy (ApHCM) (Yamaguchi Syndrome) with hypertrophy of the ventricular apex constitutes 8% of the hypertrophic cardiomyopathies (HCMs). ApHCM can cause ventricular malignant dysrhythmias, atrial fibrillation, and ischemic chest pain. Definitive diagnosis is made by electrocardiography (ECG) and transthoracic echocardiography. A 73-year-old male patient was admitted to the emergency department with chest pain. The patient's vital signs were within the normal range. In the ECG, there were giant negative T wave in leads V4-5-6, 0.5 mm ST segment depression, and left ventricular hypertrophy in the inferior derivations. The left ventricular apex thickness was measured as 14 mm (reference range: 6-11). Although the HEART score was 4, the preliminary diagnosis of the patient was determined as ApHCM. Beta-blocker and antiplatelet therapy were started. The mortality and morbidity rates of ApHCM are higher among HCMs. Clinicians should be aware of such ECG and echocardiography findings to prevent possible morbidity and mortality.

Keywords

• Apical
• hypertrophic cardiomyopathy
• Yamaguchi syndrome
• acute coronary syndrome
• echocardiography

Yamaguchi Sendromu: Akut Koroner Sendrom Ayırıcı Tanısında Zor Bir Tanı

Abstract

Ventriküler apeksin hipertrofisi ile seyreden apikal hipertrofik kardiyomiyopati (ApHKM) (Yamaguchi Sendromu) hipertrofik kardiyomiyopati (HKM)’lerin %8'ini oluşturmaktadır. ApHKM ventriküler malign disritmilere, atriyal fibrilasyona ve iskemik göğüs ağrısına neden olabilir. Kesin tanı elektrokardiyografi (EKG) ve transtorasik ekokardiyografi ile konur. 73 yaşında bir erkek hasta göğüs ağrısı şikayetiyle acil servise başvurdu. Hastanın vital bulguları normal sınırlardaydı. EKG'de V4-5-6 derivasyonlarında dev negatif T dalgası, 0,5 mm ST segment depresyonu ve inferior derivasyonlarda sol ventrikül hipertrofisi vardı. Sol ventrikül apeks kalınlığı 14 mm (referans aralığı: 6-11) olarak ölçüldü. HEART skoru 4 olmasına rağmen hastanın ön tanısı ApHKM olarak belirlendi. Beta-bloker ve antiplatelet tedavi başlandı. HKM'ler arasında ApHKM'nin mortalite oranları daha yüksektir. Klinisyenler olası morbidite ve mortaliteyi önlemek için bu tür EKG ve ekokardiyografi bulgularının farkında olmalıdır.

Keywords

• Apikal
• hipertrofik kardiyomiyopati
• Yamaguchi sendromu
• akut coroner sendrom
• ekokardiyografi

References

1. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res. 1998;83(6):580-93.
2. Sakamoto T, Tei C, Murayama M, Ichiyasu H, Hada Y. Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Echocardiographic and ultrasono‐cardiotomographic study. Jpn Heart J. 1976;17(5):611-29.
3. Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, et al. Risk of death in long‐term follow‐up of patients with apical hypertrophic cardiomyopathy. Am J Cardiol. 2013;111(12):1784-91.
4. Eriksson MJ, Sonnenberg B, Woo A, Rakowski P, Parker TG, Wigle ED, et al. Long‐term outcome in patients with apical hypertrophic cardiomyopathy. J Am Coll Cardiol. 2002;39(4):638-45.
5. Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, et al. Clinical profiles of hypertrophic cardiomyopathy with apical phenotype--comparison of pure-apical form and distal-dominant form. Circ J. 2009;73(12):2330-6.
6. Maron MS, Rowin EJ, Wessler BS, Mooney PJ, Fatima A, Patel P, et al. Enhanced American College of Cardiology/American Heart Association strategy for prevention of sudden cardiac death in high‐risk patients with hypertrophic cardiomyopathy. JAMA Cardiol. 2019;4(7):644-57.
7. Yang K, Song YY, Chen XY, Wang JX, Li L, Yin G, et al. Apical hypertrophic cardiomyopathy with left ventricular apical aneurysm: prevalence, cardiac magnetic resonance characteristics, and prognosis. Eur Heart J Cardiovasc Imaging. 2020;21(12):1341-50.
8. Papanastasiou CA, Zegkos T, Karamitsos TD, Rowin EJ, Maron MS, Parcharidou D, et al. Prognostic role of left ventricular apical aneurysm in hypertrophic cardiomyopathy: A systematic review and meta-analysis. Int J Cardiol. 2021;332:127-32.

9. Stephenson E, Monney P, Pugliese F, Malcolmson J, Petersen SE, Knight C, et al. Ineffective and prolonged apical contraction is associated with chest pain and ischaemia in apical hypertrophic cardiomyopathy. Int J Cardiol. 2018;251:65-70.
10. Rouskas P, Katranas S, Zegkos T, Gossios T, Parcharidou D, Tziomalos G, et al. Apical hypertrophic cardiomyopathy: Diagnosis, natural history, and management. Cardiol Rev. 2023;[Epub ahead of print]. doi: 10.1097/CRD.0000000000000579.
11. Ward RP, Pokharna HK, Lang RM, Williams KA. Resting "Solar Polar" map pattern and reduced apical flow reserve: characteristics of apical hypertrophic cardiomyopathy on SPECT myocardial perfusion imaging. J Nucl Cardiol. 2003;10(5):506-12.