Clinical Scorecard: Identification of a new FHOD3 splice-site mutation in a Chinese family affected by hypertrophic cardiomyopathy: a case study

At a Glance

Key Highlights

• HCM is predominantly an autosomal dominant disorder with a prevalence of 1:200 to 1:500.
• Approximately 60% of HCM cases carry pathogenic genetic variants.
• A novel splice-site variant (c.1286 + 2delT) in FHOD3 was identified in a Chinese family.

Guideline-Based Recommendations

Diagnosis

• Clinical diagnosis of HCM is based on unexplained left ventricular wall thickness ≥1.5 cm.

Management

• Genetic analysis and echocardiography for family members of affected individuals.

Monitoring & Follow-up

• Regular echocardiographic assessments to monitor myocardial hypertrophy.

Risks

• Potential for sudden cardiac events in asymptomatic individuals with HCM.

Patient & Prescribing Data

Young adults diagnosed with HCM, particularly those with familial variants.

Clinical Best Practices

• Utilize whole-exome sequencing for genetic diagnosis in suspected HCM cases.
• Perform comprehensive cardiac imaging, including echocardiography and CMR, for accurate assessment.

Related Resources & Content

• Ochoa et al. 2018
• American College of Medical Genetics and Genomics