Abstract:
Background. Hypertrophic cardiomyopathy (HCM) is caused by genetic defects in
sarcomeric proteins, with autosomal dominant inheritance. The estimated prevalence is 1:500 cases. It may remain undiagnosed for a long time, being often asymptomatic or
presenting with non-specific clinical manifestations.
Objective(s). of the study. Clinical case presentation of a patient with obstructive HCM,
positive family history, who underwent surgical treatment, outlining the importance of early
diagnosis and family screening.
Materials and methods. Patient Z, 64 years old, was admitted to the cardiology department
with the following symptoms: constrictive retrosternal pain, dyspnea on medium exertion,
syncope. Anamnestic data were collected, physical exam and clinical workup including
laboratory tests, electrocardiogram, echocardiography and chest X-ray was performed.
Results. Anamnesis: the patient's daughter was diagnosed with HCM at the age of 16. EKG:
sinus rhythm, HR 84 b/min, signs of left ventricular (LV) hypertrophy. EchoCG: normal size
heart chambers, severe LV myocardial hypertrophy with LVOT obstruction (PGmax
55mmHg), sigmoidal IVS (28/22mm) with muscle band fixated on the antero-lateral pillar,
EF 65%, moderate-to-severe MV regurgitation. Laboratory biomarkers within normal limits.
Morrow septal myectomy was performed with complete mitral valvuloplasty.
Postoperatively, EchoCG shows regression of LV hypertrophy, without LVOT obstruction
(IVS 15/21mm PG max 12.5 mm Hg), mild MV regurgitation, EF 59%.
Conclusion(s). Patients with hypertrophic cardiomyopathy require early diagnosis through
careful history taking, Holter ECG, echocardiography, MRI, genetic testing. Screening of firstdegree relatives is of paramount importance in order to prevent fatal arrhythmias and
sudden cardiac death.
