A case of asymptomatic hypertrophic cardiomyopathy in outpatient practice

Hypertrophic cardiomyopathy (HCM) in asymptomatic patients is often identified on resting electrocardiography (ECG), with diagnosis confirmed by echocardiography (EchoCG) and magnetic resonance imaging (MRI). Objective. To present a clinical case of an asymptomatic, non-obstructive form of hypertrophic cardiomyopathy characterized by the predominant localization of left ventricular hypertrophy affecting the basal anteroseptal and anterior segments of the left ventricle. A clinical case description. We report a case involving a 32-year-old asymptomatic patient, S., who was monitored after changes in the resting ECG were detected during a routine medical examination. The patient underwent Holter ECG monitoring, echocardiography with the Valsalva maneuver, bicycle ergometry, and measurement of N-terminal brain natriuretic propeptide (NT-proBNP) levels as part of an outpatient assessment. Contrast-enhanced cardiac MRI was subsequently performed at the A.N. Bakulev National Medical Research Center of Cardiovascular Surgery. ECG and echocardiographic evaluations in the patient’s parents did not reveal left ventricular (LV) anomalies or hypertrophy (LVH). Genetic testing was recommended for the patient and their relatives to identify potential mutations in genes encoding sarcomeric proteins. The findings underscore that in young, asymptomatic patients with significant alterations in the ventricular complex on the resting ECG, attention must be directed to voltage criteria for LVH, using multiple ECG parameters to achieve an accurate diagnosis. Recognition of ECG signs consistent with HCM facilitates a targeted assessment of cardiac chamber structure to detect echocardiographic markers of HCM. The use of contrast-enhanced cardiac MRI is advisable to clarify echocardiographic results, evaluate the extent of myocardial fibrosis, and rule out phenocopies of HCM. Moreover, the need for genetic testing of the patient and relatives for genes with a well-established causal association with HCM is underscored. Annual follow-up for asymptomatic patients, including an evaluation of sudden cardiac death risk, is deemed essential. Conclusions. The presented case illustrates the feasibility of detecting hypertrophic cardiomyopathy in asymptomatic young patients within an outpatient setting. An annual, comprehensive diagnostic evaluation is critical for identifying both early signs of heart failure and the progression of left ventricular outflow tract obstruction.