Apical hypertrophic cardiomyopathy and atrial septal defect: part of a multi-organ syndrome?

AIM: We describe a case of non-obstructive apical hypertrophic cardiomyopathy with atrial septal defect, in a 48-year-old caucasian female patient with chronic renal failure, hypothyroidism and primary amenorrhea, referred to our hospital for syncope, palpitation and shortness of breath.

METHODS AND

RESULTS

Electrocardiogram, transthoracic echocardiogram and cardiac magnetic resonance showed classical features of apical hypertrophic cardiomyopathy. Apical hypertrophic cardiomyopathy is morphologically characterized by apical ventricular hypertrophy, and is reported to be a relatively benign prognosis compared with the other type of hypertrophic cardiomyopathy.

CONCLUSION

Apical hypertrophic cardiomyopathy is very rare in the West, is occasionally encountered in Japanese persons, but there have been only a few reports of its coexistence with atrial septal defect. Our present report is the first case of apical hypertrophic cardiomyopathy with atrial septal defect associated with renal failure, hypothyroidism and primary amenorrhea that could represent a multi-organ syndrome. This hypothesis was supported by the finding of the same characteristics in a sister of the patient.