2022
DOI: 10.1002/uog.23713
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Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras

Abstract: In the recent era, during which there has been improved access to genetic testing options, a higher proportion of fetal cardiomyopathy (CM) cases had an identifiable genetic etiology than reported previously. Despite recent major advances in perinatal management strategies, the postnatal outcome of this group of patients remains very poor. What are the clinical implications of this work?There is a critical role for genetic assessment and investigation of the family in cases of fetal CM. Interpretation of genet… Show more

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Cited by 3 publications
(15 citation statements)
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“…They show variable manifestations, which render often unpredictable the prognosis definition and the anticipation of adverse events. Congenital diseases may eventually manifest during adulthood in response to specific stresses, remaining undiscovered until a dramatic or fatal episode occurs, even in agonistic athletes routinely submitted to ECG to practice [102][103][104][105][106][107][108][109][110][111]. Acquired rhythm pathologies might be induced by several causes, among which drug cardiotoxicity, cardiomyopathies, myocarditis or systemic infections, valve diseases, and interventional/surgical maldeployment of cardiac valve replacements [112][113][114][115][116][117][118][119][120][121][122][123][124][125][126][127][128].…”
Section: Heart Rhythm Diseases: Clinical Signs Underlying Causes and Modeling Approachesmentioning
confidence: 99%
“…They show variable manifestations, which render often unpredictable the prognosis definition and the anticipation of adverse events. Congenital diseases may eventually manifest during adulthood in response to specific stresses, remaining undiscovered until a dramatic or fatal episode occurs, even in agonistic athletes routinely submitted to ECG to practice [102][103][104][105][106][107][108][109][110][111]. Acquired rhythm pathologies might be induced by several causes, among which drug cardiotoxicity, cardiomyopathies, myocarditis or systemic infections, valve diseases, and interventional/surgical maldeployment of cardiac valve replacements [112][113][114][115][116][117][118][119][120][121][122][123][124][125][126][127][128].…”
Section: Heart Rhythm Diseases: Clinical Signs Underlying Causes and Modeling Approachesmentioning
confidence: 99%
“…Rarely seen prenatally, they occur as late onset anomalies and account for approximately 2–2.5% of all congenital heart diseases [ 2 , 3 ]. Fetal and neonatal outcomes are extremely poor, with a reported perinatal mortality rate of up to 50–82%, continuing into the neonatal period, with primary CMs being the most common cause of cardiac transplantation in childhood [ 4 , 5 , 6 , 7 ].…”
Section: Introductionmentioning
confidence: 99%
“…Fetal echocardiography remains the main diagnostic tool in prenatal diagnosis of primary CMs [ 7 ]. Based on clinical and anatomical presentation, categorization is most commonly performed into dilated (DCM), hypertrophic (HCM), and restrictive (RCM) cardiomyopathy and might be subdivided into isolated noncompaction cardiomyopathy (NCCM), as published data demonstrated its feasibility in prenatal echocardiographic detection [ 1 , 7 , 8 , 9 , 10 , 11 ]. Grouping different phenotypes is used to define the underlying cause, which is a significant determinant of neonatal outcome [ 5 ].…”
Section: Introductionmentioning
confidence: 99%
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