Non-compaction (NC) cardiomyopathy is characterized by prominent ventricular trabeculae with intertrabecular recesses with a thin compacted myocardial layer. NC cardiomyopathy is clinically diverse, ranging from no symptoms to heart failure, arrhythmia, and thromboembolic events; moreover, it can be an isolated finding or associated with a congenital heart defect. Thirty to fifty percent of cases are familial with several sarcomeric, cytoskeletal and NOTCH signaling pathway gene involvement. Diagnosis is made by echocardiography, but recent studies have shown superiority to cardiac MRI.
We describe the prenatal diagnosis of a patient with non-compaction cardiomyopathy. She is the second child of healthy, non-consanguineous Ashkenazi Jewish parents. Her three-year-old sister has a non-specific cardiomyopathy with left ventricular dilatation, apical thickening and a mild global hypokinesis. Our patient`s fetal ultrasound revealed NC biventricular cardiomyopathy and a 6mm membranous VSD. Amniocentesis for chromosomal microarray was normal. She was born full-term weighing 2950gr, not dysmorphic with a 2/6 holosystolic murmur. Electrocardiogram demonstrated sinus rhythm, frontal axis with left side dominance and inverted T waves in the left precordial leads. Her echocardiography showed significant bi-ventricular hypertrophy with non-compaction pattern, a large membranous VSD and pulmonary hypertension. At two-week follow-up, she remained with pulmonary hypertension and no heart failure- surgical intervention per clinical course.
NC cardiomyopathy has a distinct phenotype with variable presentation and genetic etiologies. This case suggests a familial etiology for the NC; however parents refused EXOM sequencing. Her metabolic workup is pending. Prenatal diagnosis of the NC cardiomyopathy may lead to timely counseling and improved postnatal care.
