References

perinatology

Российский вестник перинатологии и педиатрии

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

1027-40652500-2228

Ltd. “The National Academy of Pediatric Science and Innovation”

10.21508/1027-4065-2017-62-3-20-31

perinatology-495

Research Article

ОБЗОР ЛИТЕРАТУРЫ

REVIEWS

ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКА ГИПЕРТРОФИЧЕСКОЙ КАРДИОМИОПАТИИ

DIFFERENTIAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY

Леонтьева

И. В.

Leontyeva

I. V.

Адрес для корреспонденции: Леонтьева Ирина Викторовна – доктор медицинских наук, профессор, гл. научный сотрудник отдела детской кардиологии и аритмологии

125412 Москва, ул. Талдомская, д.2

ОСП «Научно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. ПироговаРоссияAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical UniversityRussian Federation

2017

28062017

6232031

2017

Ltd. “The National Academy of Pediatric Science and Innovation”

https://www.ped-perinatology.ru/jour/about/submissions#copyrightNotice

https://www.ped-perinatology.ru/jour/article/view/495

Гипертрофическая кардиомиопатия – наиболее частая форма кардиомиопатий, встречающаяся в детском возрасте, возникающая при мутации генов, кодирующих белки саркомерного и несаркомерного комплексов. В основу диагностики заболевания положены данные эхокардиографии, выявляющие структурные изменения в сердечной мышце по типу гипертрофии, при этом генез этих изменений остается невыясненным. Причины гипертрофической кардиомиопатии в детском возрасте разнообразны. Большое значение имеет ранняя диагностика метаболических форм гипертрофической кардиомиопатии, так, в ряде случаев возможен регресс гипертрофии на фоне ферментозамещающей или иной медикаментозной терапии. В статье представлены клинические (кардиальные и экстракардиальные симптомы) и лабораторные маркеры гипертрофической кардиомиопатии при мутациях генов белков саркомерного комплекса, врожденных нарушениях обмена веществ (гликогенозы, лизосомальная патология, нарушения обмена жирных кислот, митохондриальные заболевания), генетических синдромах (Нунан, LEOPARD, Костелло, сердечно-лице-кожный), нервно-мышечных заболеваниях. Приводятся критерии дифференциальной диагностики генетических форм гипертрофической кардиомиопатии и гипертрофии миокарда у спортсменов.

Hypertrophic cardiomyopathy is the most common form of cardiomyopathy, occurring in childhood, occurring when a gene is mutated that encodes proteins of sarcomeric and non-sarcomeric complexes. The diagnosis of the disease is based on the data of echocardiography, revealing structural changes in the heart muscle according to the type of hypertrophy, while the genesis of these changes remains unclear. The causes of hypertrophic cardiomyopathy in childhood are diverse. Of great importance is the early diagnosis of metabolic forms of hypertrophic cardiomyopathy, so in some cases regress of hypertrophy is possible against the background of enzyme-substitution or other drug therapy. The article presents a clinical (cardiac and extracardiac symptoms) and laboratory markers of hypertrophic cardiomyopathy with mutations of genes of proteins of the sarcomeric complex, congenital metabolic disorders (glycogenoses, lysosomal pathology, fatty acid metabolism disorders, and mitochondrial diseases), genetic syndromes (Noonan, LEOPARD, Costello, cardio-fascial-cutaneous), neuromuscular diseases. The criteria for differential diagnosis of genetic forms of hypertrophic cardiomyopathy and myocardial hypertrophy in athletes are presented.

детигипертрофическая кардиомиопатияэтиологиясиндромальные формыврожденные нарушения обмена веществмитохондриальные кардиоми опатиимышечные дистрофиисиндромы НунанLEOPARDКостеллогипертрофия миокарда у спортсменов

childrenhypertrophic cardiomyopathyetiologysyndromal formscongenital metabolic disordersmitochondrial cardiomyopathymuscular dystrophiessyndromes NoonanLEOPARDCostellomyocardial hypertrophy in athletes

References1

Elliott P., Anastasakis A., Borger М., Borggrefe M., Cecchi F., Charron P. et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35(39): 2733–2779. DOI: 10.1093/eurheartj/ehu284.

Gersh B.J., Maron B.J., Bonow R.O., Diarini J.A., Fifer M.A.Link M.S. et al. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines. Circulation 2011; 124: 1304–1377.

Moak J.P., Kaski J.P. Hypertrophic cardiomyopathy in children. Heart 2012; 98: 1044–1054. DOI: 10.1136/ heartjnl-2011-300531.

Maron B.J., Spirito P., Roman M.J., Paranicas M., Okin P.M., Best L.G. et al. Prevalence of hypertrophic cardiomyopathy in a general population-based sample of American indians: the Strong Heart Study. Am J Cardiol 2004; 93: 1510–1515.

Maron B., Spirito P., Ackerman M., Casey S.A., Semsarian C., Estes N.A. et al. 3 rd Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy J Amer Coll Cardiol 2013; 61(14): 1527–1535. DOI: 10.1016/ j.jacc.2013.01.037.

O.stman-Smith I. Hypertrophic cardiomyopathy in childhood and adolescence – strategies to prevent sudden death. Fundam Clin Pharmacol 2010; 24: 637–652. DOI: 10.1111/ j.1472-8206.2010.00869.

Elliott P., Andersson B., Arbustini E., Bilinska Z., Cecchi F., Charron P. et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008; 29: 270–276. DOI: 10.1093/eurheartj/ehm342.

Wilkinson J.D., Landy D.C., Colan S.D., Towbin J.A., Sleeper L.A. et al. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin 2010; 6: 401–41.

Corrado D., Cristina B., Chiavon M., Thiene G. Screening for Hypertrophic Cardiomyopathy in young athletes. New Engl J Med 1998; 339: 364–369.

Christiaans I., Birnie E., Bonsel G.J., Mannens M.M., Michels M., Majoor-Krakauer D., Dooijes D. et al. Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy Eur Heart J 2011; 32(9): 1161–1170. DOI: 10.1093/eurheartj/ehr092.

Coats C.J., Elliott P.M. Genetic biomarkers in hypertrophic cardiomyopathy. Biomark Med 2013; 7: 505–516. DOI: 10.2217/bmm.13.79.

Ackerman M.J., Van Driest S.L., Ommen S.L., Will M.L., Nishimura R.A., Tajik A.J. et al. Prevalence and age dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy:a comprehensive outpatient perspective. J Am Coll Cardiol 2002; 39: 2042–2048.

Girolami F., Ho C.Y., Semsarian C., Baldi M., Will M.L., Baldini K., Torricelli F. et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 2010; 55: 1444–1453. DOI: 10.1016/j.jacc.2009.11.062.

Tariq M., Ware S. Importance of genetic evaluation and testing in pediatric cardiomyopathy. World J Cardiol 2014; 6: 11: 1156–1165. DOI: 10.4330/wjc.v6.i11.1156.

Kindel S.J., Miller E.M., Gupta R., Cripe L.H., Hinton R.B., Spicer R.L. et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail 2012; 18:396–403. DOI: 10.1016/j.cardfail.2012.01.017.

Lipshultz S.E., Orav E.J., Wilkinson J. D., Towbin J.A., Messere J.E., Lowe A.M. et al. Risk stratification at the time of diagnosis for children with hypertrophic cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry Study Group. Lancet 2013; 382(9908): 1889-1897. DOI: 10.1016/ S0140-6736(13)61685-2.

Cox G.F. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24: 15-25. DOI: 10.1016/ j.ppedcard.2007.08.013.

Blair E., Redwood C., Ashrafian H., Oliveira M., Broxholme J., Kerr B. et al. Mutations in the gamma (2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet 2001; 10: 1215–1220.

Murphy R.T., Mogensen J., McGarry K., Bahl A., Evans A., Osman E. et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol 2005; 45: 922–930. DOI: 10.1016/j.jacc.2004.11.053

Boucek D., Jirikowic J., Taylor M. Natural history of Danon disease. Genet Med 2011; 13: 6: 563–568. DOI: 10.1097/ GIM.0b013e31820ad795.

Maron B.J., Roberts W.C., Ho C.Y., Kitner C., Haas T.S., Wright G.B. et al. Profound left ventricular remodeling associated with LAMP2 cardiomyopathy. Am J Cardiol 2010; 106: 1194 –1196. DOI: 10.1016/j.amjcard.2010.06.035.

Maron B.J., Roberts W.C., Arad M., Haas T.S., Spirito P., Wright G.B. et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009; 301(12): 1253. DOI: 10.1001/jama.2009.371.

Kishnani P.S., Steiner R.D. Pompe disease diagnosis and management guideline. Genetics in Medicine 2006; 8: 5: 267– 288. DOI: 10.109701.gim.0000218152.87434.f3.

Arad M., Maron B., Gorham J. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352: 362–372. DOI: 10.1056/NEJMoa033349.

Tabarki B., Mahdhaoui A., Yacoub M., Selmi H., Mahdhaoui N., Bouraoui H. et al. Familial hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome revealing type II glycogenosis. Arch Pediatr 2002; 9(7): 697–700.

Van Maldergem L., Haumont D., Saurty D. et al. Bradycardia in a case of type II glycogenosis (Pompe’s disease) revealing in early neonatal period. Acta Clin Belg 1990; 45(6): 412–414.

Klinge L., Straub V., Neudorf U., Voit T. Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics 2005; 36(1): 6–11. DOI: 10.1016/j.nmd.2004.10.009.

Moses S.W., Wanderman K.L., Myroz A., Frydman M. Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 1989; 148(8): 764–766.

Tada H., Kurita T., Ohe T., Shimomura K., Ishihara T., Yamada Y. Glycogen storage disease type III associated with ventricular tachycardia. Am Heart J 1995; 130(4): 911–912.

Elliott P., Baker R., Pasquale F., Quarta G., Ebrahim H., Mehta A.B. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey. Heart 2011; 97: 1957–1960. DOI: 10.1136/ heartjnl-2011-300364.

Ries M., Gupta S., Moore D.F., Sachdev V., Quirk J.M., Murray G.J. et al. Pediatric Fabry disease. Pediatrics 2005; 115(3): e344-355. DOI: 10.1542/peds.2004–1678

Kampmann C., Baehner F.A., Whybra C., Bajbouj M., Baron K., Knuf M. et al. The right ventricle in Fabry disease. Acta Paediatr Suppl 2005; 94(447): 15–18.

Kalliokoski R.J., Kalliokoski K.K., Sundell J., Engblom E., Penttinen M., Kantola I. et al. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 2005; 28(4): 563–573. DOI: 10.1007/s10545-005-0563-2

Blum A., Ashkenazi H., Haromankov I., Khazim K., Sheiman J. First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry’s disease. South Med J 2003; 96(2): 212–23.

Shah J.S., Elliott P.M. Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy. Acta Paediatr Suppl 2005; 94(447):11–14.

Gross D.M., Williams, J.C., Caprioli C., Dominguez B., Howell R.R. Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol 1988; 61: 170–176.

Auclair D., Hopwood J.J., Brooks D.A., Lemontt J.F. Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab 2003; 78(3): 163–174.

Falk R.H. Diagnosis and management of the cardiac amyloidoses. Circulation 2005; 112: 2047–2060. DOI: 10.1161/ CIRCULATIONAHA.104.489187.

Rahman J. E., Helou E. F., Gelzer-Bell R. Noninvasive diagnosis of biopsy proven cardiac amyloidosis. J Am Coll Card 2004; 43: 410–415. DOI: 10.1016/j.jacc.2003.08.043.

Shah K. B., Inoue Y., Mehra M. R. Amyloidosis and the heart. Arch Intern Med 2006; 166: 1805–1813. DOI: 10.1001/ archinte.166.17.1805.

Friedrich M.G., Sechtem U., Schulz-Menger J. Cardiovascular magnetic resonance in myocarditis: A JACC White Paper. J Am Coll Cardiol 2009; 53: 1475–1487. DOI: 10.1016/j. jacc.2009.02.007.

Николаева Е.А., Мамедов И.С. Диагностика наследственных дефектов обмена жирных кислот у детей. Рос вестн перинатол и педиатр 2008; 53(6): 37–40. [Nikolaeva E.A., Mamedov I.S. Diagnostics of hereditary defects of metabolism of fatty acids in children. Ros Vestn perinatol i Pediatr 2008; 53(6): 37–40. (in Russ)]

Parini R., Vegni C., Martini J., Romeo A., Garavaglia B. Sudden infant death and multiple acyl-CoA dehydrogenation disorders. Eur J Pediatr 1995; 154: 421–422.

Bonnet D., Martin D., de Lonlay P., Villain E, Jouvet P., Rabier D. et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999; 100: 2248–2253.

Berardo A., Musumeci O., Toscano A. Cardiological manifestations of mitochondrial respiratory chain disorders. Acta Myologica 2011; XXX: 9–15.

Holmgren D., Wahlander H., Eriksson B.O, Oldfors A., Holme E., Tulinius M. et al. Cardiomyopathy in children with mitochondrial disease: clinical course and cardiological findings. Eur Heart J 2003; 4: 280–288.

Limongelli G., Masarone D., D’Alessandro R., Elliott PM. Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course. Future Cardiol 2012; 8: 71–88. DOI: 10.2217/fca.11.79.

Jordens E.Z., Palmieri L., Huizing M. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann Neurol 2002; 52: 95–99.

Anan R., Nakagawa M., Miyata M., Higuchi I., Nakao S., Suehara M. et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91: 955–961.

Sproule D.M., Kaufmann P., Engelstad K., Starc T.J., Hordof A.J., De Vivo D.C. Wolff-Parkinson-White syndrome in patients with MELAS. Arch Neurol 2007; 64: 1625–1627. DOI: 10.1001/archneur.64.11.1625.

Molnar M.J., Perenyi J., Siska E., Nemeth G., Nagy Z. The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. J Neurol 2009; 256: 264–265. DOI: 10.1007/s00415-009-0841-2.

Wahbi K., Larue S., Jardel C., Meune C., Stojkovic T., Ziegler F. et al. Cardiac involvement is frequent in patients with the m.8344A > G mutation of mitochondrial DNA. Neurology 2010; 74: 674–677. DOI: 10.1212/WNL.0b013e3181d0ccf4.

Bugiani M., Invernizzi F., Alberio S., Briem E., Lamantea E., Carrara F. et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 2004; 1659: 136–147. DOI: 10.1016/j.bbabio.2004.09.006.

Сухоруков В.С. Очерки митохондриальной патологии М: ИД «МЕДПРАКТИКА-М» 2011; 288. [Sukhorukov V.S. Essays mitochondrial pathology. Moscow: MEDPRAKTIKA-M, 2011; 288. (in Russ)]

Леонтьева И.В., Николаева Е.А. Поражение сердца при синдроме Барта. Рос вестн перинатол и педиатр 2016; 61(1): 26–32. [Leontyeva I.V., Nikolaeva E.A. Cardiac involvement in the Barth syndrome. Ros Vestn perinatol i Pediatr 2016; 61(1): 26–32. (in Russ)]

Wilkinson J.D., Lowe A.M., Salbert B.A., Sleeper L.A., Colan S.D., Cox G.F., Towbin J.A. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012; 164: 442–448. DOI: 10.1016/j.ahj.2012.04.018.

Limongelli G., Pacileo G., Marino B., Digilio M.C., Sarkozy A., Elliott P. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol 2007; 100: 736–741. DOI: 10.1016/j.amjcard.2007.03.093.

Sarkozy A., Digilio M.C., Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis 2008; 3: 13. DOI: 10.1186/1750-1172-3- 13.

Lin A.E., Grossfeld P.D., Hamilton R.M., Smoot L., Gripp K.W., Proud V. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002; 111: 115–129.

Roberts A., Allanson J., Jadico S.K. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43: 833–842. DOI: 10.1136/ jmg.2006.042796.

Limongelli G., D’Alessandro R., Maddaloni V., Rea A., Sarkozy A., McKenna W.J. Skeletal muscle involvement in cardiomyopathies. J Cardiovasc Med ( Hagerstown) 2013; 14: 837–861. DOI: 10.2459/JCM.0b013e3283641c69.

Lagedrost S.J., Sutton M.S., Cohen M.S. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study ( IONIA). Am Heart J 2011; 161: 639–645. DOI: 10.1016/j.ahj.2010.10.038.

Allen H.D., Thrush P.T., Hoffman T.M., Flanigan K.M., Mendell J.R. Cardiac management in neuromuscular diseases. Phys Med Rehabil Clin N Am 2012; 23(4): 855–868. DOI: 10.1016/j.pmr.2012.08.001.

Rapezzi C., Arbustini E., Caforio A.L., Charron P., Gimeno- Blanes J., Helio T. еt al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESCWorking Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34: 1448–1458. DOI: 10.1093/eurheartj/ehs397.

Ullmo S., Vial Y., Di Bernardo S., Roth-Kleiner M., Sekarski N. et al. Pathologic ventricular hypertrophy in the offspring of diabetic mothers: a retrospective study. Eur Heart J 2007; 28: 1319–1325. DOI: 10.1093/eurheartj/ehl416

Lauschke J., Maisch B. Athlete’s heart or hypertrophic cardiomyopathy? Clin Res Cardiol 2009; 98(2): 80–88. DOI: 10.1007/s00392-008-0721-2

The authors declare that there are no conflicts of interest present.