Diagnostic, Prognostic, and Therapeutic Implications and Outcomes of Children with Primary Hypertrophic Cardiomyopathy in Kosovo

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium in which a portion of the myocardium is hypertrophied (thickened) without any obvious cause, creating functional impairment of the cardiac muscle. It is a leading cause of sudden cardiac death in young athletes. The occurrence of HCM is a significant cause of sudden unexpected cardiac death in any age group and as a cause of disabling cardiac symptom. AIM: The aim of the study was identification of the manifestations, assessment, and follows-up of children with HCM by transthoracic echocardiography as an important tool for clinical management and better understanding of pathogenesis of HCM. MATERIALS AND METHODS: We present a comprehensive analysis of 43 patients seen in Kosovo, with clinical and echocardiographic signs of HCM. Retrospectively, we analyzed medical records, treatment, and outcomes of those children, who have continued follow-up at our institution. RESULTS: Twenty-three of them were male, aged between 4 months and 9 years at the first presentation (median of 2 years and 3 months). Cardiac failure, seen in almost half of them, was the most frequent presenting feature. At admission, the chest radiographs revealed an increased cardiothoracic ratio, to a mean of 72% in 5 infants and to 65% in 37 older children. Measured by transthoracic echocardiography, 28 patients had asymmetric hypertrophy of the left ventricle while 15 had concentric hypertrophy. The left ventricular ejection fraction was depressed in 21 patients. Patients with cardiac failure received various combinations of diuretics, B-blockers, angiotensin-converting enzyme inhibitors, and aspirin. Death occurred in 8 patients, in 4 of them shortly after admission; 4 patients left Kosovo and continued examination abroad, and the remaining 32 were followed up for a mean 42 months, with a range from 5 to 115 months. Surgical intervention was not performed on any of them despite the clinical and echocardiographic indications. Recovery was noted in 14 patients but requiring anti-failure medications. Slightly over two-fifths died. Of those with asymmetric form, 45% died, in half of those presenting in infancy, and 89% of those who presented at admission with signs of cardiac failure. CONCLUSION: With the exception of the studies of pacing, no conclusive evaluations of treatments for HCM have been conducted. Management strategy is, therefore, based largely on clinical experience and consensus of many specialists.