Cardiomyopathy, Dilated/genetics

ABC

Case Report

Dilated Cardiomyopathy: New Variant in the Filamin-C Gene

Murilo Zomer Frasson et al. Cristiano Pederneiras Jaeger

Case Report

This is a case report of a 50-year-old male patient who came to the emergency department of our institution with a complaint of progressive dyspnea for a week. The patient reported a previous history of fibromyalgia and denied other comorbidities, such as myocardial infarction or stroke. He denied current smoking, but occasionally used alcohol. His routine medications included duloxetine, pregabalin and zolpidem. His mother and cousins had a history of heart failure due to idiopathic dilated cardiomyopathy, with no other cardiovascular comorbidities in his family history.

On physical examination, he showed stable vital signs, crackles in the lung bases and edema in the lower limbs. Cardiac auscultation showed normal heart sounds. The electrocardiogram showed sinus rhythm, with no signs of atrial or ventricular overload (). The chest radiography revealed cardiomegaly. The laboratory tests showed an NT-pro-BNP of 2335 pg/mL, and the series of ultrasensitive T-troponins revealed consecutive values of 0.074 ng/mL and 0.072 ng/mL (reference value < 0.014 ng/mL).

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ABC

Review Article

Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Arsonval Lamounier Júnior et al. Filipe Ferrari Renato Max Luiz Eduardo Fonteles Ritt Ricardo Stein

Abstract

Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.

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Dilated Cardiomyopathy: New Variant in the Filamin-C Gene

Case Report

Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Abstract

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Electronic Document Format (Vancouver)

Electronic Document Format (ABNT)

Electronic Document Format (APA)

Electronic Document Format (ISO)