Apical hypertrophic cardiomyopathy (AHCM), also known as Yamaguchi syndrome, is a rare form of hypertrophic cardiomyopathy which usually involves the apex of the left ventricle, rarely involves the right ventricular apex, or involves both apices.
Historically, this condition was thought to be confined to the Japanese population but it is also found in other populations. Of all HCM patients in Japan the prevalence of AHCM was 15-25% (cf. US ~ 3%).
Over half of patients with apical hypertrophic cardiomyopathy are thought to be asymptomatic but the most common presenting symptom is chest pain, followed by palpitations, dyspnea and syncope. It may also manifest as morbid events such as atrial fibrillation, myocardial infarction, embolic events, ventricular fibrillation and/or congestive heart failure.
- left ventricular hypertrophy
- giant (>10 mm in amplitude), negative T waves 12
- most pronounced in the mid to lateral precordial (V4-5) leads
- may correlate with severity of apical hypertrophy 13
It is frequently sporadic. An autosomal dominant inheritance has been reported in a few families where a sarcoma gene mutation (E101K mutation in the alpha-cardiac actin gene) has been identified 1.
Some publications divide this into 3 subtypes:
- pure focal: considered most common
- pure diffuse
A "spade-like" configuration, or ace-of-spades sign, of the left ventricle is the classic appearance 6.
Treatment and prognosis
Compared with other variants of HCM, the prognosis of apical hypertrophic cardiomyopathy is relatively benign. The overall mortality rate of AHCM patients has been reported ~10.5% and cardiovascular mortality ~1.9% after a follow-up of 13.6 ± 8.3 years 1.
History and etymology
The syndrome and its echocardiographic appearances were first described in 1979 by H Yamaguchi.
Possible differential considerations include
- 1. Yusuf SW, Bathina JD, Banchs J, Mouhayar EN, Daher IN. Apical hypertrophic cardiomyopathy. World journal of cardiology. 3 (7): 256-9. doi:10.4330/wjc.v3.i7.256 - Pubmed
- 2. Zeineh NS, Eles G. Images in clinical medicine. Apical Hypertrophic Cardiomyopathy. The New England journal of medicine. 373 (19): e22. doi:10.1056/NEJMicm1413682 - Pubmed
- 3. BW, Lee W, Park JH. Hypertrophic cardiomyopathy: assessment with MR imaging and multidetector CT. Radiographics : a review publication of the Radiological Society of North America, Inc. 30 (5): 1309-28. doi:10.1148/rg.305095074 - Pubmed
- 4. Spirito P, Autore C. Apical hypertrophic cardiomyopathy or left ventricular non-compaction? A difficult differential diagnosis. European heart journal. 28 (16): 1923-4. doi:10.1093/eurheartj/ehm266 - Pubmed
- 5. Acartürk E, Bozkurt A, Dönmez Y. Apical hypertrophic cardiomyopathy: diagnosis with contrast-enhanced echocardiography--a case report. Angiology. 54 (3): 373-6. doi:10.1177/000331970305400316 - Pubmed
- 6. Caglar I, Vural A, Ungan I, Ugurlucan M, Karakaya O. Apical hypertrophic cardiomyopathy--case report and review of the literature. Georgian medical news. Pubmed
- 7. Walpot J, Pasteuning WH, Shivalkar B. Apical hypertrophic cardiomyopathy: elegant use of contrast-enhanced echocardiography in the diagnostic work-up. Acta cardiologica. 67 (4): 495-7. doi:10.2143/AC.67.4.2170697 - Pubmed
- 8. Moon JC, Fisher NG, McKenna WJ, Pennell DJ. Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiography. Heart (British Cardiac Society). 90 (6): 645-9. Pubmed
- 9. Ibrahim T, Schwaiger M. Diagnosis of apical hypertrophic cardiomyopathy using magnetic resonance imaging. Heart (British Cardiac Society). 83 (1): E1. Pubmed
- 10. Olearczyk B, Gollol-Raju N, Menzies DJ. Apical hypertrophic cardiomyopathy mimicking acute coronary syndrome: a case report and review of the literature. Angiology. 59 (5): 629-31. doi:10.1177/0003319707306447 - Pubmed
- 11. Yamaguchi H, Ishimura T, Nishiyama S, Nagasaki F, Nakanishi S, Takatsu F, Nishijo T, Umeda T, Machii K. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. The American journal of cardiology. 44 (3): 401-12. Pubmed
- 12. Levis JT. ECG diagnosis: apical hypertrophic cardiomyopathy. (2013) The Permanente journal. 17 (2): 84. doi:10.7812/TPP/12-089 - Pubmed
- 13. Park SY, Park TH, Kim JH, Baek HK, Seo JM, Kim WJ, Cha KS, Kim MH, Kim YD. Relationship between giant negative T-wave and severity of apical hypertrophy in patients with apical hypertrophic cardiomyopathy. (2010) Echocardiography (Mount Kisco, N.Y.). 27 (7): 770-6. doi:10.1111/j.1540-8175.2010.01152.x - Pubmed