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

Abstract

Nonobstructive cardiomyopathies (CMs) may be familial in 20–55% 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.