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 genetic test results is complex and the implications are multiple, including targeted screening of the extended family and recurrence-risk counseling in future pregnancies. Through provision of information on recent outcomes of a group of patients with fetal CM, the findings of this study should facilitate accurate counseling of families following a prenatal diagnosis of this rare condition.

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling

“…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].…”

Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview

“…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 ].…”

“…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 ].…”

“…Clinical presentation, however, is highly variable and fetuses may have perinatal demise in almost one third of affected cases, or may present severe postnatal cardiac failure, or be born with a relatively benign neonatal course with a potential for recurrence [ 5 , 12 ]. Albeit unfavorable, echocardiographic predictors for an intrauterine demise have been defined; previously published data, limited to small study populations and heterogeneous cohorts, have failed to evaluate prognostic criteria for a tailored approach to intrauterine guidance on outcome [ 5 , 6 , 7 , 8 ].…”

“…With contradictory results, consulting and impact on management strategies has to be re-evaluated, especially as rapid increase in clinically available genetic testing facilitated confirmation of an identifiable genetic etiology in 40–80% of neonatal primary CMs, suggesting that not only the demand for prenatal counselling with a known family history will increase in significance, but also that suspecting prenatal primary CM should include targeted screening of the extended family and recurrence-risk counseling for subsequent pregnancies [ 7 , 13 ].…”