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RAUCHFUSS-KISSEL SYNDROME IN A CHILD WITH CONGENITAL HEART DEFECT. A CLINICAL CASE

https://doi.org/10.17802/2306-1278-2024-13-3S-208-215

Abstract

Highlights

The review describes a rare clinical case of isolated left ventricular apical hypoplasia with atrial septal defect.

 

Abstract

Isolated left ventricular apical hypoplasia is characterized by impaired left ventricle. The frequency of the disease is 0.5-0.75% and it can be easily detected on echocardiography. The disease is difficult to diagnose due to absence of symptoms, therefore timely diagnosis and treatment can prevent any complications and improve the quality of life.

About the Authors

Alexandra A. Rumiantseva
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation

PhD, Senior Researcher at the Laboratory of Organoprotection in Children with Congenital Heart Defects, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation



Natalia G. Perevalova
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation

Pediatric Cardiologist at the Cardiovascular Surgery Department №2, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation



Alexandr N. Kokov
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation

MD, PhD, Leading Researcher at the Laboratory of Circulatory Pathology, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation



Irina N. Sizova
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation

Researcher at the Laboratory of Heart Defects, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation



References

1. Podzolkov P.V., Plakhova V.V., Aleksandrova S.A., Tuchina N.S., Slappo M.A. Isolated hypoplasia of the apex of the left ventricle is a rare congenital abnormality of the heart. Childhood diseases of the heart and blood vessels. 2016; 2: 117 – 120. (in Russian)

2. Fernandez-Valls M., Srichai M.B., Stillman A.E., White R. D. Isolated left ventricular apical hypoplasia: a new congenital anomaly described with cardiac tomography. Heart. 2004; 90(5): 552–555. doi: 10.1136/hrt.2003.010637.

3. Sugak A. B., Silnova I. V., Basargina E. N., Dvoryakovskiy I. V., Barsky V. I., Filinov I. V., Degtyareva T. D., Arkhipov E. N. New diagnosis: hypoplasia of the top of the left ventricle of the heart. Ultrasound and Functional Diagnostics. 2013; 3: 79–87 (In Russioan)

4. Orsborne C., Schmitt M. Isolated left ventricular apical hypoplasia, characterized by cardiac magnetic resonance imaging. Eur. Heart J. 2014; 35: 3303 doi: 10.1093/eurheartj/ehu316.

5. Zhao Y., Zhang J., Zhang J. Isolated Left Ventricular Apical Hypoplasia with Right Ventricular Outflow Tract Obstruction: A Rare Combination. Ann. Noninvasive Electrocardiol. 2015; 20: 502–505. doi: 10.1111/anec.12234.

6. Patrianakos A. P., Protonotarios N., Zacharaki A., Tsatsopoulou A., Parthenakis F. I., Vardas P. S. Isolated left ventricular apical hypoplasia: a newly recognized unclassified cardiomyopathy. J. Am. Soc. Echocardiogr. 2010; 3(12): 1336. doi: 10.1016/j.echo.2010.05.014.

7. Marin C., Sanchez M. L., Maroto E. Silvia Ossaba Ruiz Y. Zabala J. MR imaging of isolated left ventricular apical hypoplasia. Pediatr. Radiol. 2007; 37(7): 703–705. doi: 10.1007/s00247-007-0459-4.

8. Wang T., Chen H., Ma X., Wang Zh. F. Isolated Left Ventricular Apical Hypoplasia: A Case Report and Literature Review. J. Gen. Pract. (Los Angel). 2016; 4: 4. doi: 10.4172/2329-9126.1000267

9. Pica S., Ghio S., Raineri C., Scelsi L., Turco A. Mutation of the lamin A/C gene associated with left ventricular apical hypoplasia: a new phenotype for laminopathies? G. Ital. Cardiol. 2014; 15: 717–719. doi: 10.1714/1718.18778.

10. Sani Z. A., Vojdanparast M., Rezaeian N., Seifi A., Tehrani S. O., Nezafati P. Left ventricular apical hypoplasia: Case report on cardiomyopathy and a history of sudden cardiac death. ARYA Atheroscler. 2016; 12: 50–54.

11. Vanhecke T. E., Decker J., Leonowicz N., Chinnaiyan K. M. Isolated left ventricular apical hypoplasia. Congenit. Heart Dis. 2011; 6: 646–649. doi: 10.1111/j.1747-0803.2011.00489.x.

12. Starmer G., Younger J. F., Stewart P. Multimodality imaging of isolated left ventricular apical hypoplasia. Eur. Heart J. 2011; 33: 675. doi: 10.1093/eurheartj/ehr252.

13. Skidan V. I., Pavlukova Е. N., Barcissova G. P. Isolated left ventricular apical hypoplasia, rare cardiomyopathy. Siberian medical journal. 2018; 33(1): 21–26. doi: 10.29001/2073-8552-2018-33-1-21-26 (In Russian)

14. Ding W. Y., Meah M., Rao A., Fairbairn T., Hasleton J. Isolated Left Ventricular Hypoplasia in a Postpartum Patient. Can. J. Cardiol. 2016; 32(6):829.e15-17. doi: 10.1016/j.cjca.2015.08.012.

15. Moon J. I., Jeong Y. J., Lee G., Choi J. H., Lee J. W. Isolated Left Ventricular Apical Hypoplasia with Infundibular Pulmonary and Aortic Stenosis: a Rare Combination. Korean J. Radiol. 2013; 14: 874–877. doi: 10.3348/kjr.2013.14.6.874.

16. Chaowu Y., Xin S., Shihua Z., Jianrong L., Hao W. Complete transposition of the atrioventricular valves associated with left ventricular apical hypoplasia. Circulation. 2011; 124: 538–539. doi: 10.1161/CIRCULATIONAHA.111.043620.

17. Ong C. C., Hia C. P., Lim T. C., Teo L. L. Isolated leftventricular apical hypoplasia presenting as a leftventricular mass on echocardiography. Pediatr. Cardiol. 2012; 33(8): 1456–1457. doi: 10.1007/s00246-012-0349-x.

18. Hong S. A., Kim Y. M., Lee H. J. Three-Dimensional Endo-Cardiovascular Volume-Rendered Cine Computed Tomography of Isolated Left Ventricular Apical Hypoplasia: A Case Report and Literature Review. Korean J. Radiol. 2016; 17(1):79-82. doi: 10.3348/kjr.2016.17.1.79.

19. Flett A. S., Elliott P. M., Moon J. C. Images in cardiovascular medicine. Cardiovascular magnetic resonance of isolated left ventricular apical hypoplasia. Circulation. 2008; 117(25): 504–505. doi: 10.1161/CIRCULATIONAHA.107.746503.

20. Irving C. A., Chaudhari M. P. Fatal presentation of congenital isolated left ventricular apical hypoplasia. Eur. J. Cardiothorac. Surg. 2009; 35(2): 368–369. doi: 10.1016/j.ejcts.2008.10.039

21. Beresin F.B., Beznosyuk E.V., Sokolova E.D. Psychological mechanisms of psycosomatical diseases. Russian medical joutnal. 1998;2: 43-49.(In Russian)

22. Pylaeva N.M., Akhutina T.V. Neuropsychology and school. Vestnik Moskovskogo universiteta. Seriya 14: Psikhologiya (Lomonosov Psychology Journal). 2012;(2):116–122. (In Russian)


Supplementary files

Review

For citations:


Rumiantseva A.A., Perevalova N.G., Kokov A.N., Sizova I.N. RAUCHFUSS-KISSEL SYNDROME IN A CHILD WITH CONGENITAL HEART DEFECT. A CLINICAL CASE. Complex Issues of Cardiovascular Diseases. 2024;13(3S):208-215. (In Russ.) https://doi.org/10.17802/2306-1278-2024-13-3S-208-215

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