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Apical hypertrophic cardiomyopathy: a study of 14 patients and their first degree relatives
M M Barbosa1, A H Coutinho, M S Motta
1Hospital Vera Cruz, Belo Horizonte, Brazil.
Insights
Apical hypertrophic cardiomyopathy presents unique characteristics in Brazilian patients, differing from other populations. This study details symptoms and genetic links in 14 individuals, highlighting distinct clinical expressions.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Apical hypertrophic cardiomyopathy (AHC) is a recognized variant of hypertrophic cardiomyopathy (HCM).
- Potential differences in genetic factors, clinical course, and complications between AHC and other HCM forms warrant investigation.
- Limited data exists on the specific characteristics of AHC in Brazilian populations.
Purpose of the Study:
- To describe the clinical characteristics of apical hypertrophic cardiomyopathy in 14 Brazilian patients.
- To investigate the familial prevalence of left ventricular hypertrophy in relatives of patients with AHC.
- To compare the clinical expression of AHC in Brazilians with findings reported in other ethnic groups, particularly Japanese patients.
Main Methods:
- Retrospective analysis of clinical data from 14 Brazilian patients diagnosed with AHC.
- Echocardiography and Doppler criteria used to assess left ventricular filling abnormalities.
- Rest electrocardiograms (ECG), exercise stress tests, and 24-hour ambulatory monitoring were performed.
- First-degree relatives (48 individuals) underwent echocardiographic screening for left ventricular hypertrophy.
Main Results:
- All 14 patients exhibited frequent symptoms and abnormal left ventricular filling.
- Rest ECG revealed giant negative T waves in 5 patients; all patients had reduced exercise capacity.
- Significant arrhythmias were detected in only one patient via 24-hour monitoring.
- Echocardiography identified left ventricular hypertrophy in 3 of 48 first-degree relatives.
Conclusions:
- Apical hypertrophic cardiomyopathy in Brazilians is characterized by frequent symptoms and abnormal left ventricular filling.
- The clinical presentation in Brazilians appears distinct from Japanese cohorts, with less frequent giant T waves and higher female involvement.
- Familial screening suggests a potential genetic component, though further research is needed to elucidate specific genetic factors.
Abstract:
Although apical hypertrophic cardiomyopathy is generally accepted as a form of hypertrophic cardiomyopathy, its underlying genetic factors, clinical course and complications may be different. The characteristics of 14 Brazilian patients with a diagnosis of apical hypertrophic cardiomyopathy are described. Symptoms were frequent and abnormal filling of the left ventricle by Doppler criteria was recorded in all patients. Rest electrocardiograms showed giant negative T waves in 5 patients, all had low exercise capacity on an exercise stress test while significant arrhythmias were detected by 24-h ambulatory monitoring in just one patient. Forty-eight first degree relatives were studied and 3 had some form of hypertrophy of the left ventricle as seen by echocardiography. Apical hypertrophic cardiomyopathy in Brazilians seems to be expressed somewhat differently from that reported in Japanese patients, since "giant' T waves are less frequent and women more involved.