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Journal of the Union of Scientists - Varna. Medicine and Ecology Series

Clinical case of a noncompaction cardiomyopathy with restrictive filling diastolic dysfunction in a 5-year-old girl

Kalina Ganeva, Petar Shivachev, Milena Avdzhiyska, Martin Boyadzhiev


Noncompaction cardiomyopathy is a rare cardiomyopathy, which is characterized by trabeculations and deep intratrabecular recesses, forming a sponge-like appearance of the myocardium. Clinical variability is possible – from asymptomatic patients to congestive heart failure, tromboembolic complications, and even sudden cardiac death. Two-dimensional echocardiography is the preferred diagnostic tool, based on specific criteria, which are not yet definite. Discovery of specific genetic mutations support the diagnosis. The main therapeutic approach is symptomatic – treatment of congestive heart failure and anticoagulant medications.

We present a case of a 5-year-old girl, without a family history of chronic diseases, who was referred to our department because of a fever, cough and bilateral pneumonia. Upon admission she was with impaired general condition, with signs of respiratory and congestive heart failure. Echocardiography examination demonstrated noncompaction cardiomyopathy, mostly for the left ventricle, with leading diastolic left ventricular dysfunction with restrictive filling pattern, evaluated by tissue doppler, and pulmonary hypertension.

This clinical case demonstrates the rare combination of noncompaction cardiomyopathy with restrictive left ventricular filling pattern, clinically manifested by congestive heart failure and pulmonary hypertension.


noncompaction cardiomyopathy, diastolic dysfunction, pediatric population

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