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Practice Guideline
. 2025 Dec 1:440:133686.
doi: 10.1016/j.ijcard.2025.133686. Epub 2025 Jul 31.

Pregnancy in patients with inherited myocardial disorders - A consensus document on preconception counseling and pregnancy management by the working group on myocardial and pericardial disorders of the Italian Society of Cardiology

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Practice Guideline

Pregnancy in patients with inherited myocardial disorders - A consensus document on preconception counseling and pregnancy management by the working group on myocardial and pericardial disorders of the Italian Society of Cardiology

Silvia Castelletti et al. Int J Cardiol. .

Abstract

Cardiomyopathies are inherited cardiac disorders characterized by increased risk of heart failure and life-threatening arrhythmias leading to sudden cardiac death. The comprehension of the genetic foundation and the accessibility of genetic testing have significantly enhanced the identification of patients harbouring mutations linked to cardiomyopathy, even in the absence of a distinct phenotype, facilitating early diagnosis. However, the diagnosis at a young age carries the intrinsic problem of the possible disease transmission. Pre-conception counseling of mutation carriers is not always straightforward. Additionally, women with an overt phenotype may be at increased risk of morbidity and mortality during pregnancy and therefore the management of the disease and of the pregnancy needs to be extensively discussed. The present document of the Working Group on Myocardial and Pericardial Disorders of the Italian Society of Cardiology aims to guide physicians, nurses and allied health professionals involved in the care of patients with cardiomyopathy on clinical decision when facing a young woman with a cardiomyopathy, highlighting the gaps on knowledge and strengths for each cardiomyopathy. The importance of pre-pregnancy counseling to better guide the patients and prevent the negative effects of pregnancy on phenotypic expression and disease is also addressed.

Keywords: Arrhythmias; Cardiomyopathy; Delivery; Heart failure; Inherited disorders; Pregnancy; Sudden cardiac death.

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