Ramush A. BEJIQI, Ragip RETKOCERI, Naim ZEKA, Armend VUÇİTERNA, Aferdita MUSTAFA, Arlinda MALOKU, Rinor BEJIQI

Clinical manifestation and outcomes of children with hypertrophic cardiomyopathy in Kosovo

Background and objectives. Identification of the manifestations, assessment and follow up of children with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography may be important for clinical management and our understanding of pathogenesis. Methods. We present a comprehensive analysis of 43 children seen in Kosovo, 23 were male, aged between 4 months and 9 years at first presentation (median of 2 years and 3 months). Results. Cardiac failure, seen in almost half of them, was the most common presenting feature. At admission, the chest x-ray revealed an increased cardiothoracic ratio, to a mean of 72% in 6 infants and to 65% in 37 older children. Measured by transthoracic echocardiography, 28 children had asymmetric hypertrophy of left ventricle while 15 had concentric hypertrophy. Left ventricular ejection fraction was depressed in 21 children. Patients with cardiac failure received various combinations of diuretics, B-blockers, ACE inhibitors and anticoagulant therapy (aspirin). Death occurred in 8 children, in 4 of them shortly after admission, the other 4 left Kosovo and continued examination and treatment abroad Kosovo; their death has been confirmed by family members. The remaining 32 were followed- up for a mean 42 months, with a range from 5 to 115 months. Surgical intervention was not performed to any of them, despite the clinical and echocardiography indications due to a limitation of resources. Recovery was noted in 14 children but still requiring anti-heart failure medications. Slightly over two-fifths died. Of those with asymmetric form, 45% died, half of those presenting in infancy, and 89% of those who presented at admission with signs of cardiac failure. Conclusion. The results of our study show that similar to many centers, the etiology of HCM is often uncertain. In the absence of etiology, treatment aimed at the cause is either impossible or, at best, empirical.

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1. Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003; 348: 1647-1655.

2. Maron BJ. Hypertrophic cardiomyopathy in childhood. Pediatr Clin North Am 2004; 51: 1305- 1346.

3. Colan SD, Lipshultz SE, Lowe AM, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation 2007; 115: 773-781.

4. Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54: 201-211.

5. Maron MS, Olivotto I, Betocchi S, et al. Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med 2003; 348: 295-303.

6. Maron BJ. Echocardiographic assessment of left ventricular hypertrophy in patients with obstructive or nonobstructive hypertrophic cardiomyopathy. Eur Heart J 1983; 4(Suppl F) 73-91.

7. Dimitrow PP, Podolec P, Grodecki J, et al. Comparison of dual-chamber pacing with nonsurgical septal reduction effect in patients with hypertrophic obstructive cardiomyopathy. Int J Cardiol 2004; 94: 31-34.

8. Nishimura RA, Holmes DR Jr. Clinical practice. Hypertrophic obstructive cardiomyopathy. N Engl J Med 2004; 350: 1320-1327.

9. Colan SD. Treatment of hypertrophic cardiomyopathy in childhood. Progr Pediatr Cardiol 2011; 31: 13-19.

10. Dadlani GH, Harmon WG, Perez-Colon E, Sokoloski MC, Wilmot I, Lipshultz SE. Diagnosis and screening of hypertrophic cardiomyopathy in children. Progr Pediatr Cardiol 2011; 31: 21-27.

11. Maron BJ. Sudden death in hypertrophic cardiomyopathy. J Cardiovasc Trans Res 2009; 2: 368-380.

12. Hindieh W, Adler A, Weissler-Snir A, Fourey D, Harris S, Rakowski H. Exercise in patients with hypertrophic cardiomyopathy: a review of current evidence, national guideline recommendations and a proposal for a new direction to fitness. J Sci Med Sport 2017; 20: 333-338.

13. Minakata K, Dearani JA, Schaff HV, O’Leary PW, Ommen SR, Danielson GK. Mechanisms for recurrent left ventricular outflow tract obstruction after septal myectomy for obstructive hypertrophic cardiomyopathy. Ann Thorac Surg 2005; 80: 851-856.

14. Semsarian C, Richmond DR. Sudden cardiac death in familial hypertrophic cardiomyopathy: an Australian experience. Aust N Z J Med 1999; 29: 368- 370.

15. Elliott P, Spirito P. Prevention of hypertrophic cardiomyopathy-related deaths: theory and practice. Heart 2008; 94: 1269-1275.

16. Spirito P, Autore C, Rapezzi C, et al. Syncope and risk of sudden death in hypertrophic cardiomyopathy. Circulation 2009; 119: 1703-1710.

17. Maron MS, Olivotto I, Zenovich AG, et al. Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation 2006; 114: 2232-2239.

18. Hess OM, Sigwart U. New treatment strategies for hypertrophic obstructive cardiomyopathy: alcohol ablation of the septum: the new gold standard? J Am Coll Cardiol 2004; 44: 2054-2055.

19. Maron BJ, Yacoub M, Dearani JA. Benefits of surgery in obstructive hypertrophic cardiomyopathy: bring septal myectomy back for European patients. Eur Heart J 2011; 32: 1055-1058.

20. Emmel M, Sreeram N, de Giovanni JV, Brockmeier K. Radiofrequency catheter septal ablation for hypertrophic obstructive cardiomyopathy in childhood. Z Kardiol 2005; 94: 699-703.

21. Elliot PM, Gimeno JR, Tome MT, et al. Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy. Eur Heart J 2006; 27: 1933-1941.

22. Kofflard MJ, Ten Cate FJ, van der Lee C, van Domburg RT. Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J Am Coll Cardiol 2003; 41: 987-993.