Sudden cardiac death diagnosed with dilated cardiomyopathy in a Kuwaiti family: a case report

BMC Research Notes

Maisa Mahmoud Kamkar¹  Daisy Thomas¹  Osama Alsmadi¹  Kazem Behbehani³  Dinu Antony¹  Bassam Bulbanat² 

[1] Genetics and Genomics Unit/Dasman Genome Center, Biomedical Research Department, Dasman Diabetes Institute, Kuwait City, Kuwait;Division of Cardiology, Al-Amiri Hospital, Ministry of Health, P.O. Box 1180, Dasman 15462, Kuwait;Dasman Diabetes Institute, Kuwait City, Kuwait

关键词: Sudden arrhythmic death;    Familial dilated cardiomyopathy;    Cardiomyopathies;   

Others  :  1091919
DOI  :  10.1186/1756-0500-7-914

 received in 2014-05-06, accepted in 2014-12-11,  发布年份 2014

【 摘 要 】

Background

Dilated cardiomyopathy is myocardial disease characterized by dilatation and impaired contraction of the left ventricle or both left and right ventricle. The majority of these cases are secondary to coronary artery disease, hypertension and valvular cardiomyopathy. Patients diagnosed with dilated cardiomyopathy are further clinically evaluated for evidence of familial history of the disease. Those families have shown to have genetic predisposition to dilated cardiomyopathy; thus, currently there is no available single genetic test that allows comprehensive testing of all causative genes. We report a Kuwaiti case of dilated cardiomyopathy that was diagnosed at young age. The patient clinical presentation pointed out to the fact that this was a familial disease. This case is the first reported in Kuwait clinically presented with familial dilated cardiomyopathy implying a genetic susceptibility factor to be further investigated within the at-risk family members.

Case presentation

23-year-old Arab ethnicity Kuwaiti male with strong family history of dilated cardiomyopathy was admitted witnessed with sudden cardiac death. The patient presented with sudden arrhythmic death and survived with permanent anoxic brain injury. Transthoracic echocardiography revealed dilated cardiomyopathy with severe global left ventricular systolic dysfunction. After thorough investigation, the patient shown to have strong family history of dilated cardiomyopathy.

Conclusion

Familial dilated cardiomyopathy is poorly documented in Kuwait. We present this case with future plan to study the genetic map of his family.

【 授权许可】

   
2014 Bulbanat et al.; licensee BioMed Central.

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【 参考文献 】

• [1]The current epidemiology of CV disease: Epidemiology of Cardiovascular Disease in the 21st Century: Updated Numbers and Updated Facts. Jived 2013, 1:1-2.
• [2]ᅟ: Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br Heart J 1980, 44:672.
• [3]The Cardiac Arrhythmia Suppression Trial (CAST) Investigators: Preliminary report: effect of encainide and flecainide on mortality in a randomized trial of arrhythmia suppression after myocardial infarction. N Engl J Med 1989, 321:406-412.
• [4]Chugh SS, Jui J, Gunson K, Stecker EC, John BT, Thompson B, Ilias N, Vickers C, Dogra V, Daya M, Kron J, Zheng ZJ, Mensah G, McAnulty J: Current burden of sudden cardiac death: multiple source surveillance versus retrospective death certificate-based review in a large U.S. community. J Am Coll Cardiol 2004, 44:1268-1275.
• [5]Stojanovska J, Garg A, Patel S, Melville D, Kazerooni E, Mueller G: Congenital and hereditary causes of sudden cardiac death in young adults: diagnosis, differential diagnosis, and risk stratification. Radiographics 2013, 33(7):1977-2001.
• [6]Groh WJ, Groh MR, Saha C, Kincaid J, Simmons Z, Ciafaloni E, Pourmand R, Otten R, Bhakta D, Nair G, Marashdeh M, Zipes D, Pascuzzi R: Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1. N Engl J Med 2008, 358:2688-2697.
• [7]Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss A, Seidman C, Young J: Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006, 113:1807-1816.
• [8]Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic C, Tavazzi L, Keren A: 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.
• [9]Arbustini E, Narula N, Dec GW, Reddy KS, Greenberg B, Kushwaha S, Marwick T, Pinney S, Bellazzi R, Favalli V, Kramer C, Roberts R, Zoghbi WA, Bonow R, Tavazzi L, Fuster V, Narula J: The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation. J Am Coll Cardiol 2013, 62(22):2046-2072.
• [10]Santulli G: The role of cardiovascular risks in determining coronary artery disease (Coronary heart disease risk factors and mortality). JAMA 2012, 307(11):1137.
• [11]Brown CA, O’Connell JB: Myocarditis and idiopathic dilated cardiomyopathy. Am J Med 1995, 99:309.
• [12]Braunwald E, Zipes DP, Libby P: Heart Disease: A text book of cardiovascular medicine. 6th edition. Philadelphia: W.B. Saunders Company; 2001:1775.
• [13]Manolio TA, Baughman KL, Rodeheffer R, Pearson TA, Bristow JD, Michels VV, Abelmann WH, Harlan WR: Prevalence and etiology of idiopathic dilated cardiomyopathy (Summary of a National Heart, Lung, and Blood Institute Workshop). Am J Cardiol 1992, 69:1458. 12
• [14]Durand JB, Bachinski LL, Bieling LC, Czernuszewicz G, Abchee A, Yu Q, Tapscott T, Hill R, Ifegwu J, Marian AJ, Brugada R, Daiger S, Gregoritch J, Anderson J, Quiñones M, Towbin J, Roberts R: Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 1995, 92:3387. 1995
• [15]Hershberger RE, Siegfried JD: Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy. J Am Coll Cardiol 2011, 57(16):1641-1649.
• [16]Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA, Heart Failure Society of America: Genetic Evaluation of cardiomyopathy a Heart Failure Society of America practice guideline. J Card Fail 2009, 15:83-97.
• [17]Santulli G, Cipolletta E, Sorriento D, Giudice C, Anastasio A, Monaco S, Maione AS, Condorelli G, Puca A, Trimarco B, Illario M, Iaccarino G: CaMK4 Gene Deletion Induces Hypertension. J Am Heart Assoc 2012, 4:e001081.
• [18]Lobmeyer MT, Wang L, Zineh I, Turner S, Gums J, Chapman A, Cooper-DeHoff R, Beitelshees A, Bailey K, Boerwinkle E, Pepine C, Johnson J: Polymorphisms in genes coding for GRK2 and GRK5 and response differences in antihypertensive-treated patients. Pharmacogenet Genomics 2011, 21:42-49.
• [19]Santulli G, Trimarco B, Iaccarino G: G-protein-coupled receptor kinase 2 and hypertension: molecular insights and pathophysiological mechanisms. High Blood Press Cardiovasc Prev 2013, 20:5-12.