The contribution of cardiopulmonary exercise testing in the familial screening for dilated and non-dilated left ventricular cardiomyopathies: case series.

ABSTRACT:

Background

The importance of family screening in relatives of patients affected by cardiomyopathies is highlighted in the international guidelines. Although electrocardiogram (ECG) and echocardiogram represent cornerstones of family screening, they may not always be sufficient to detect subtle abnormalities, especially in genotype-positive/phenotype-negative relatives. The role of cardiopulmonary exercise testing (CPET) in providing additional clinical information during family screening, remains to be fully elucidated.

Case summary

Ten asymptomatic genotype-positive/phenotype-negative first-degree relatives of probands affected by dilated cardiomyopathy (DCM) and non-dilated left ventricular cardiomyopathy (NDLVC) were evaluated in the context of family screening. Cardiopul

SUBMITTER: Del Mestre E 

PROVIDER: S-EPMC12038895 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature