Author + information
- Gregory Siroky,
- Amit Alam,
- Archana Patel,
- Delia Dobrescu,
- Deepa Iyer,
- Kanika Mody and
- Michael Huang
Hypertrophic cardiomyopathy (HCM) and LV noncompaction (LVNC) are two primary, phenotypically distinct cardiomyopathies which occur as a result of a genetic abnormality affecting the myocardium. Both entities have been widely accepted as distinct cardiomyopathies, however, recent literature has suggested that there is genetic overlap between the causative genes.
22 year old male with no PMH presented with palpitations. He was found to be in VT so was cardioverted. Coronary angiogram was normal but LV gram showed an EF of 10-20%. Cardiac MRI showed reduced biventricular function with basal anterior wall hypertrophy, up to 2.1cm, and mid to apical hypertrabeculation with a ratio of noncompacted to compacted myocardium of 3:1. Subcutaneous ICD was placed for secondary prevention. Endomyocardial biopsy (EMB) showed myocyte hypertrophy and endocardial fibrosis. Genetic testing revealed heterozygosity for a variant in the NEBL gene.
As there is not much literature regarding the overlap between HCM and LVNC, there was hesitation in how to treat this patient. The final decision was to place the secondary prevention ICD as it was felt that the patient would not recover his EF. EBM and genetic testing were done to better classify the cardiomyopathy.
This case highlights a rare case of LV hypertrophic noncompaction and adds to the growing evidence that these two pathologic processes share a common genetic abnormality leading to its coexistence in the same individual.
Poster Hall, Hall F
Sunday, March 17, 2019, 3:45 p.m.-4:30 p.m.
Session Title: FIT Clinical Decision Making: Heart Failure and Cardiomyopathies 4
Abstract Category: Heart Failure and Cardiomyopathies
Presentation Number: 1260-131
- 2019 American College of Cardiology Foundation