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Published on: July 21, 2023
Severe foetal hypertrophic cardiomyopathy evolving to left ventricular non-compaction
Pedro Betrián Blasco1, Dimpna Calila Albert Brotóns, Queralt Ferrer Menduña
1Pediatric Cardiology, Valle de Hebrón Hospital, Paseo de Valle de Hebrón 119-129, CP 08035 Barcelona, Spain. pedrobetrian@yahoo.es
Summary
Severe hypertrophic cardiomyopathy in a fetus resolved, revealing co-existing left ventricular non-compaction. This suggests a potential shared genetic origin for these distinct cardiomyopathies.
Area of Science:
- Cardiology
- Genetics
- Fetal Medicine
Background:
- Prenatal diagnosis of severe hypertrophic cardiomyopathy (HCM) with systolic dysfunction and generalized edema.
- Delivery via Caesarean section at 33 weeks gestation, requiring neonatal intensive care.
Observation:
- Postnatal follow-up revealed regression of cardiac hypertrophy.
- Development of a cystic mass from posterior right auricular hypertrophy.
- Left ventricular myocardium developed trabeculations meeting criteria for non-compaction.
Findings:
- Metabolic and infectious workups were negative, ruling out common causes.
- Genetic mutations in genes linked to HCM were recently identified in patients with left ventricular non-compaction (LVNC) without hypertrophy.
- This case demonstrates the co-existence of HCM and LVNC in the same patient.
Implications:
- Suggests a potential common genetic etiology for HCM and LVNC.
- Highlights the importance of genetic screening in complex pediatric cardiomyopathies.
- Expands understanding of the phenotypic spectrum and genetic underpinnings of cardiac muscle diseases.
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