Veidlapa Nr. M-3 (8)
Study Course Description
Pediatric Cardiology
Course Code
RGN_032
Branch of Science
Anatomy; Clinical medicine
ECTS
4.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Madara Rēdele
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
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About Study Course
Objective
To teach a genetics specialist to navigate the classification of congenital heart defects, the association of congenital heart defects with various congenital syndromes.
Learning Outcomes
Knowledge
1.During the study course, medical genetics resident acquires basic knowledge of child cardiology.
Skills
1.As a result of this study course, medical genetics resident will be able to assess the overall condition of a newborn or a child, physical indicators and psychomotor development; able to assess the results of laboratory and radiologic exam results, reason on illness prognosis, treatment and tactics of further care.
Competences
1.Resident’s knowledge corresponds the overall understanding of development and examination of a newborn or a child. The resident is able to create an examination plan appropriate for setting the diagnosis, to prescribe examinations. Knowledge of the given issue is sufficient to understand its essence, to diagnose and provide with emergency assistance, when necessary, to realize diagnostics, treatment, and preventive measures under the guidance of a specialist.
Assessment
Individual work
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Title
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% from total grade
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Grade
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1.
Individual work |
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-
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To provide the resident of medical genetics with an idea of the more common forms of hearing loss in association with congenital syndromes, non-syndromal forms of hearing loss, possibilities of correction of hearing loss in cases of different levels of hearing impairment.
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Examination
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Title
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% from total grade
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Grade
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|---|---|---|
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1.
Examination |
-
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-
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The teacher at the end of the cycle: 1. Evaluates the practical skills of the medical genetics resident using a 10-point system, recording the evaluation in the resident's book. 2. The theoretical knowledge of the medical genetics resident is assessed in a 10-point system after the written test, with the assessment recorded in the resident's book.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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-
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-
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Topics
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Diagnosis and differential diagnosis of congenital syndromic and non-syndromic heart defects
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Seminar
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Modality
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Location
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-
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-
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Topics
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Possibilities, tactics, prognosis of surgical treatment of congenital heart defects
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Total ECTS (Creditpoints):
4.00
Number of Residency Seminars:
2
Length (weeks):
3
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. https://doi.org/10.1002/9781444314342, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis. In Preimplantation Genetic Diagnosis, 2nd Edition. https://doi.org/10.1017/CBO9780511581571, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
16.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
17.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
18.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
19.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
20.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
5.
Varsome. https://varsome.com/
6.
Reprotox. https://www.reprotox.org/
7.
Metagene. https://www.metagene.de/
8.
Vademecum Metabolicum. http://www.vademetab.org/
9.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
10.
11.
Treat NMD. https://treat-nmd.org/
12.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer,2019
13.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503