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[Familial cardiomyopathy with different clinical features in individual members]
Insights
A consanguineous family presented with inherited cardiomyopathy, showing varied patterns including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM)-like features. The diverse clinical manifestations highlight the complex genetic and age-related factors influencing cardiomyopathy presentation.
Area of Science:
- Cardiology
- Genetics
- Medical Science
Background:
- Cardiomyopathy is a group of diseases that affect the heart muscle.
- Inherited cardiomyopathies can present with diverse clinical and morphological features.
- Consanguinity increases the risk of autosomal recessive genetic disorders.
Observation:
- A family with consanguineous parents exhibited cardiomyopathy in the mother and three children.
- All affected family members displayed asymmetrical septal hypertrophy (ASH).
- Three individuals were diagnosed with hypertrophic cardiomyopathy (HCM), while one showed dilated cardiomyopathy (DCM)-like features.
Findings:
- The mother (57) had a septal/posterior wall thickness ratio (IVST/LVPWT) of 2.5, indicative of ASH.
- The daughter (37) presented with basal septal hypertrophy.
- The elder son (32) exhibited concentric hypertrophy, and the younger son (30) showed DCM-like features with impaired left ventricular function.
Implications:
- This case series suggests a familial predisposition to cardiomyopathy with varied phenotypes.
- The variable expression of cardiomyopathy may be influenced by genetic factors and age-related evolution.
- Understanding these patterns is crucial for accurate diagnosis and genetic counseling in affected families.
Abstract:
The mother and three children of a family whose parents were consanguineous, each had cardiomyopathy with various patterns of hypertrophy and dilatation. All members had asymmetrical septal hypertrophy (ASH), and three of them were characterized as hypertrophic cardiomyopathy (HCM). Another one had ventricular dilatation mimicking dilated cardiomyopathy (DCM). Case 1: The 57-year-old mother had a typical ASH pattern; her septal/posterior wall thickness ratio (IVST/LVPWT) was 2.5. Case 2: The 37-year-old daughter had basal septal hypertrophy. Case 3: The 32-year-old elder son had typical concentric hypertrophy. Case 4: The 30-year-old younger son had an episode of congestive heart failure, and showed DCM-like features with considerable dilatation and impaired wall motion of the left ventricle. The hypertrophic pattern in cardiomyopathies is thought to depend partially on the ages of the onset, or its evolution with aging.