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.
Typically giant T wave inversions are seen in the praecordial leads (V1-6).
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
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