Cardiogenetics

Code:

OPT90

Acronym:

CG

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2017/2018 - 2S

Active?	Yes
Responsible unit:	Department of Medicine
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	17	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	4	-	3	28	81
			5

Teaching language

Portuguese

Objectives

1. Describe the molecular basis of genetic heart diseases;
2. Identify specific phenotypes, being able to integrate clinical and imaging findings, and family history data;
3. Describe methods, strategies, and difficulties in the genetic diagnosis of heart diseases;
4. Understanding the importance of genetic counseling and interdisciplinary

Learning outcomes and competences

The aim will be achieved if, at the end of UC, the students will be able to develop the following competencies: 1) Describe the variety of clinical presentations and molecular basis of the most frequent monogenic heart diseases, 2) Discriminate the importance of family screening, metabolic and histological diagnosis and of the multidisciplinary assessment, 3) Critically analyze the genotype-phenotype correlations and develop the genetic counseling

Working method

Presencial

Program

I- Myocardial diseases: genetic cardiomyopathies; cardiac involvement in hereditary diseases of metabolism, neuromuscular diseases, genetic syndromes and hereditary amyloidoses.

  II- Cardiac channelopathies. Sudden cardiac death. Risk stratification

III- Hereditary aortopathies

IV- Congenital heart diseases

V- Premature atherosclerosis

VI- Integrated and multidisciplinary diagnostic approach: Family screening; biochemical, histological and ultrastructural characterization; molecular diagnosis

VII-Pharmacogenetics and pharmacogenomics

VIII- Genetic counseling

Mandatory literature

H.F. Baars, P.A.F.M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen; Clinical Cardiogenetics, 2016. ISBN: 978-3-319-44203-7 (e-book)

Comments from the literature

Selected scientific articles  provided by teachers

Teaching methods and learning activities

• Lectures  to expose fundamental theoretical contents


• Theoretical-practical lessons with the aim of presenting and discuss clinical cases (paradigmatic examples)

keywords

Health sciences > Medical sciences > Medicine > Rare deseases
Health sciences > Medical sciences > Medicine > Cardiology

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Participação presencial	5,00
Teste	80,00
Trabalho de campo	15,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Estudo autónomo	49,00
Frequência das aulas	28,00
Trabalho de campo	4,00
Total:	81,00

Eligibility for exams

Minimum attendance - 75% of all classes

Final classification of 10 or more

Calculation formula of final grade

(Test x 0,8) + (Frequency x 0,05) + (Fieldwork x 0,15)