Key result
Three female family members with hypertrophic cardiomyopathy were found to have midventricular obstruction and apical aneurysm formation, highlighting a rare familial phenotype.
Case Report (n=3)
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Familial hypertrophic cardiomyopathy with midventricular obstruction can lead to apical aneurysm formation, a high-risk phenotype prone to ventricular arrhythmias and heart failure that is best detected by cardiac MRI.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an extremely heterogeneous disease. An under recognized and very often missed subgroup within this broad spectrum concerns patients with left ventricular (LV) apical aneurysms in the absence of coronary artery disease. CASE PRESENTATION: We describe a case of HCM with midventricular obstruction and apical aneurysm formation in 3 patients coming from a single family. This HCM pattern was detected by 2D-echocardiography and confirmed by cardiac magnetic resonance imaging. A cardioverter defibrillator was implanted in one of the patients because of non-sustained ventricular tachycardia detected in 24-h Holter monitoring and an abrupt drop in systolic blood pressure during maximal exercise test. The defibrillator activated 8 months after implantation by suppression of a ventricular tachycardia providing anti-tachycardia pacing. The patient died due to refractory heart failure 2 years after initial evaluation. The rest of the patients are stable after a 2.5-y follow-up period. CONCLUSION: The detection of apical aneurysm by echocardiography in HCM patients may be complicated. Ventricular tachycardia arising from the scarred aneurysm wall may often occur predisposing to sudden death.
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Efthimiadis et al. (2009) conducted a case report in Hypertrophic cardiomyopathy (n=3). Three female family members with hypertrophic cardiomyopathy were found to have midventricular obstruction and apical aneurysm formation, highlighting a rare familial phenotype.
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