M Boutsikou1, D Shore2, W Li3, M Rubens4, A Pijuan5, M A Gatzoulis3, S V Babu-Narayan3. 1. Adult Congenital Heart Centre & National Centre for Pulmonary Hypertension, Royal Brompton Hospital, London, UK. Electronic address: M.Boutsikou@rbht.nhs.uk. 2. National Heart and Lung Institute, Imperial College School of Medicine, London, UK; Surgical Division of Adult Congenital Heart Disease Centre, Royal Brompton Hospital, London, UK. 3. Adult Congenital Heart Centre & National Centre for Pulmonary Hypertension, Royal Brompton Hospital, London, UK; National Heart and Lung Institute, Imperial College School of Medicine, London, UK. 4. Royal Brompton and Harefield NHS Foundation Trust, London, UK; National Heart and Lung Institute, Imperial College, London, United Kingdom. 5. Grown-Up Congenital Heart Disease Unit, Cardiology Department Vall d'Hebron Universitary Hospital, Barcelona, Spain.
Abstract
INTRODUCTION: The diagnosis of ALCAPA syndrome is sporadic in adulthood, of the limited cases in the literature most are incidental or without symptoms. There is a broad spectrum of clinical manifestations of ALCAPA syndrome however, including sudden cardiac death. CASES: We present herewith a series of 12 consecutive patients with ALCAPA, all diagnosed in adulthood (between 18 and 73 years of age). Five patients developed symptoms (breathlessness) after the fourth decade of life, 3 were undiagnosed despite a history of previous mitral valve repair, one presented with heart failure, one with resuscitated cardiac arrest, whereas two patients were asymptomatic. We review in this paper, the clinical history, diagnostic approach and therapeutic choices of ALCAPA syndrome. CONCLUSION: ALCAPA syndrome is not confined to childhood, late diagnosis in adulthood has a varied clinical presentation. ALCAPA syndrome should be particularly considered as a potential, albeit uncommon cause of mitral regurgitation and/or dilated cardiomyopathy.
INTRODUCTION: The diagnosis of ALCAPA syndrome is sporadic in adulthood, of the limited cases in the literature most are incidental or without symptoms. There is a broad spectrum of clinical manifestations of ALCAPA syndrome however, including sudden cardiac death. CASES: We present herewith a series of 12 consecutive patients with ALCAPA, all diagnosed in adulthood (between 18 and 73 years of age). Five patients developed symptoms (breathlessness) after the fourth decade of life, 3 were undiagnosed despite a history of previous mitral valve repair, one presented with heart failure, one with resuscitated cardiac arrest, whereas two patients were asymptomatic. We review in this paper, the clinical history, diagnostic approach and therapeutic choices of ALCAPA syndrome. CONCLUSION: ALCAPA syndrome is not confined to childhood, late diagnosis in adulthood has a varied clinical presentation. ALCAPA syndrome should be particularly considered as a potential, albeit uncommon cause of mitral regurgitation and/or dilated cardiomyopathy.
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