Cardiac Function Assessment in Patients with Family History of Nonhypertrophic Cardiomyopathy: A Prenatal and Postnatal Study

Abstract

Nonobstructive cardiomyopathies (CMs) may be familial in 20â<euro>"55% of cases. Little is known about the role of fetal echocardiography in such cases. We evaluated the cardiac function serially pre- and postnatally in cases with a family history of nonobstructive CM. The fetal and postnatal studies were performed in the echocardiogarphy laboratory at a tertiary institution. Twenty-six cases from 16 families with a family history of CM were studied. Three fetal echocardiograms were performed at or near 18, 25, and 32 weeks of gestation for complete cardiac functional assessment. Postnatally clinical evaluation, electrocardiogram, and an echocardiogram were performed within the first 3 months, with serial reevaluation for those identified with CM. The mean follow-up was 46 +/- 9 months. Abnormal cardiac function was observed in 8 cases (30%). Six had a previously affected sibling, 1 had other family members affected, and 1 had both antecedents. Four had dilated CM diagnosed prenatally of which 1 recovered, 2 died in utero, and 1 died soon after birth. The remaining 4 had normal fetal echoes and were diagnosed with CM in the first 3 months of life. Three had dilated CM with recovery, and 1 had restrictive CM requiring cardiac transplantation. This study demonstrates a high familial recurrence rate of CM. Fetal echo is useful for early diagnosis, although a normal study does not preclude ventricular dysfunction at a later stage, justifying serial prenatal and postnatal evaluation. Early identification may expedite listing for transplantation.

Diagnosis and Treatment of Fetal Cardiac Disease

“…Fetal echocardiography demands detailed evaluation of cardiac anatomy and cardiac function with 2D imaging, M-mode imaging (for rhythm assessment), and Doppler interrogation that goes beyond the basic screening examination typically used in obstetric ultrasound. Guidelines for training for physicians who evaluate [158][159][160] Progressive atrioventricular or semilunar valve obstruction 155,161,162 Progressive atrioventricular valve, ventricular, great artery, branch pulmonary artery, and arch hypoplasia secondary to obstructive lesions or reduced blood flow 136,161,[163][164][165][166] Development of myocarditis or cardiomyopathy [167][168][169][170] Progressive myocardial dysfunction secondary to structural, functional, or rhythm disturbances that may lead to the evolution of hydrops or sudden fetal demise and interpret these specialized examinations exist; a detailed discussion is outside the scope of this document and may vary regionally. It is recommended that only well-trained or experienced pediatric cardiologists, maternal-fetal medicine specialists, obstetricians, or radiologists who have acquired the appropriate knowledge base and skills should supervise and perform fetal echocardiograms.…”

“…213 Pulsed Doppler interrogation of the ventricular inflows, systemic and pulmonary veins, ductus venosus, and umbilical vein provides clues to the diastolic properties and filling of the ventricles not obtainable with color Doppler. 167 Pulsed Doppler assessment of ventricular outflows can be used to calculate ventricular stroke volumes and outputs 214 and may be helpful in pregnancies at risk for high fetal cardiac output, including but not limited to anemias, arteriovenous malformations, acardiac twin gestations, and agenesis of the ductus venosus. 129,179,180 Reversal of flow in diastole in the aortic isthmus may identify the fetus with significant vasodilation of brain vessels or "brain sparing."…”

“…Cardiac lesions that progress later in gestation, including obstructive lesions, rhabdomyomas, and certain cardiomyopathies, may not be evident in earlier gestation and warrant repeated assessment for pregnancies at risk. 136,155,167,169,171,172,252 …”

Fetal Cardiac Function: Technical Considerations and Potential Research and Clinical Applications

“…Assessment of fetal cardiac function has been proposed as a diagnostic and prognostic tool in fetal cardiomyopathies [58,59]. Hypertrophic cardiomyopathy is characterized by increased ventricular wall thickness that leads to impaired relaxation together with systolic dysfunction (demonstrated by a decreased shortening fraction), present in almost half of all cases.…”

“…The presence of diastolic dysfunction is similar in both types of disease (about 60% of cases) including abnormal venous flows (umbilical vein pulsations and biphasic inferior vena cava flow), a decreased E/A ratio, and an increased IRT. Although the presence of systolic dysfunction and significant atrioventricular valve regurgitation are risk factors for mortality, diastolic dysfunction (particularly abnormal systemic venous flow patterns and umbilical venous pulsations) is considered the best predictor of perinatal mortality [58,59]. …”