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Family screening in black patients with isolated left ventricular non-compaction: the Chris Hani Baragwanath
Anneen L Basson1, Mohammed R Essop1, Elena Libhaber1
1Charlotte Maxeke Johannesburg Academic Hospital, University of the Witwatersrand, Johannesburg, South Africa.
Insights
Echocardiographic screening detected dilated cardiomyopathy in 10.8% of relatives of isolated left ventricular non-compaction patients. Clinical screening alone, including ECG, was less effective than echocardiography for identifying these cardiomyopathies.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Cardiomyopathies like isolated left ventricular non-compaction (ILVNC), dilated cardiomyopathy (DCMO), and hypertrophic cardiomyopathy (HCM) can have familial links.
- Understanding the prevalence of these conditions in relatives of ILVNC patients is crucial for genetic counseling and early detection.
Purpose of the Study:
- To determine the prevalence and spectrum of cardiomyopathies in first-degree relatives of ILVNC patients.
- To compare the effectiveness of clinical assessment plus ECG versus echocardiography for screening these relatives.
Main Methods:
- Eighty-three relatives of 38 ILVNC patients underwent clinical history, physical examination, ECG, and echocardiography.
- Echocardiography served as the gold standard for diagnosing cardiomyopathies.
Main Results:
- Echocardiographic screening identified left ventricular dysfunction in 12.05% of relatives, with 90% diagnosed with DCMO.
- No cases of HCM or LVNC were found in the relatives.
- Clinical assessment and ECG alone showed 76% sensitivity and 42% specificity for detecting cardiomyopathies compared to echocardiography.
Conclusions:
- Echocardiographic screening revealed DCMO in 10.8% of subjects.
- A screening strategy relying solely on clinical assessment and ECG is suboptimal for identifying cardiomyopathies in relatives of ILVNC patients.
Background:
Isolated left ventricular non-compaction (ILVNC), dilated cardiomyopathy (DCMO) and hypertrophic cardiomyopathy (HCM) are diseases that may be present in family members of patients with ILVNC. The primary aim of this study was to identify the prevalence and spectrum of cardiomyopathy in first-degree relatives of patients with ILVNC. A secondary aim was to compare a strategy of clinical screening, utilising only a clinical assessment and electrocardiogram (ECG), compared to one that included echocardiography for screening of family members of patients with ILVNC.
Methods:
Eighty-three close relatives of 38 unrelated patients from the ILVNC clinic at the Chris Hani Baragwanath Hospital underwent a detailed clinical history, physical examination, ECG and echocardiogram.
Results:
Echocardiographic screening revealed unexplained left ventricular (LV) dysfunction in 10 (12.05%) relatives. Nine out of the 10 individuals satisfied the criteria for diagnosis of DCMO. No cases of HCM or LVNC were identified. A strategy of clinical assessment and ECG had a sensitivity of 76% and a specificity of 42% versus the gold standard of echocardiographic screening.
Conclusions:
Echocardiographic screening detected DCMO in 10.8% of subjects. A strategy of clinical screening that included electrocardiography was sub-optimal as a screening strategy compared to echocardiographic screening.