From Takotsubo to Yamaguchi

Area of Science:

• Cardiology
• Cardiovascular Imaging
• Internal Medicine

Background:

• Recurrent chest pain is a common presentation in emergency departments.
• Atypical chest pain often poses diagnostic challenges.
• Yamaguchi syndrome, a form of apical hypertrophic cardiomyopathy, is rare and can mimic other cardiac conditions.

Observation:

• A 56-year-old female presented with a history of 34 emergency visits for recurrent chest pain over seven years.
• Previous diagnoses were atypical; cardiac causes were identified in eleven visits.
• Chest CT showed an "ace-of-spades" appearance, and transthoracic echocardiogram revealed apical hypertrophy with systolic cavity obliteration.

Findings:

• Transthoracic echocardiogram demonstrated apical hypertrophy with end-systolic cavity obliteration.
• Ejection fraction was preserved at 65%-70% with a normal-sized left ventricle and normal wall thickness.
• These findings are indicative of Yamaguchi syndrome.

Implications:

• This case underscores the importance of broadening the differential diagnosis for patients with recurrent chest pain.
• Recognizing rare conditions like Yamaguchi syndrome is crucial for accurate diagnosis and management.
• Timely and accurate diagnosis can prevent unnecessary emergency department visits and guide appropriate treatment strategies.