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Life-threatening cardiac involvement throughout life in a case of Costello syndrome
T Fukao1, S Sakai, N Shimozawa
1Department of Pediatrics, Gifu University School of Medicine, Japan. toshi-gif@umin.u-tokyo.ac.jp
Insights
Costello syndrome can cause severe heart problems, including arrhythmias and hypertrophic cardiomyopathy. This case highlights the critical need to recognize and manage cardiac issues in affected individuals.
Area of Science:
- Genetics and rare diseases
- Cardiology
- Pediatric medicine
Background:
- Costello syndrome is a rare genetic disorder.
- Key features include poor growth, intellectual disability, and distinctive facial features.
- Cardiac anomalies are common but often underemphasized.
Observation:
- This report details a Japanese girl with Costello syndrome.
- She experienced severe, life-threatening cardiac complications throughout her life.
- Specific cardiac issues included arrhythmias and hypertrophic cardiomyopathy.
Findings:
- The case underscores the significant and potentially fatal cardiac burden in Costello syndrome.
- Early and continuous cardiac monitoring is crucial for managing patients.
- The study emphasizes the underrecognized severity of cardiac involvement.
Implications:
- Increased awareness of cardiac risks in Costello syndrome is vital for timely diagnosis and intervention.
- This case highlights the need for specialized cardiac care pathways for Costello syndrome patients.
- Further research into the cardiac manifestations of Costello syndrome is warranted.
Abstract:
Costello syndrome is characterized by poor postnatal growth, mental retardation, curly hair, coarse face, loose skin of the hands and feet, and nasal papillomata. Patients with Costello syndrome have a high incidence of cardiac involvement, such as arrhythmias, hypertrophic cardiomyopathy, or congenital anomalies. The importance of cardiac involvement in Costello syndrome has not been strongly emphasized thus far, although arrhythmia and hypertrophic cardiomyopathy are both serious forms of cardiac involvement. We report the case of a Japanese girl with Costello syndrome, who experienced life-threatening cardiac involvement throughout her life.