Penetrance and Risk Profile in Inherited Cardiac Diseases Studied in a Dedicated Screening Clinic

• Published in: The American journal of cardiology 2009-08, Vol.104 (3), p.406-410
• Main Authors: Gimeno, Juan R., MD, Lacunza, Javier, MD, García-Alberola, Arcadi, MD, Cerdán, Maria C., MD, Oliva, Maria J., MD, García-Molina, Esperanza, MD, López-Ruiz, María, MD, Castro, Francisco, MD, González-Carrillo, Josefa, MD, de la Morena, Gonzalo, MD, Valdés, Mariano, MD
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Cardiology; Cardiology. Vascular system; Cardiomyopathies - diagnosis; Cardiomyopathies - epidemiology; Cardiomyopathies - genetics; Cardiovascular; Cardiovascular disease; Child; Consanguinity; Defibrillators; Echocardiography; Electrocardiography; Female; Genetic Predisposition to Disease; Heart; Humans; Male; Mass Screening; Medical diagnosis; Medical sciences; Medical screening; Middle Aged; Penetrance; Risk Assessment; Risk Factors; Studies
• ISSN: 0002-9149; 1879-1913
• DOI: 10.1016/j.amjcard.2009.03.055

Genetically transmitted cardiomyopathies can affect several members in a family. Identification of high-risk patients could lead to a preventive treatment. We report the results of a 5-year experience of a dedicated clinic. Family screening was offered to 493 consecutive unrelated patients; 2,328 subjects (40 ± 19 years old, 52% men) were evaluated (mean 4.4 relatives/family). Electrocardiography and echocardiography were performed in all cases; additional tests were indicated depending on the disease. Familial study was recommended because of a proband with hypertrophic cardiomyopathy (HC) in 57%, idiopathic dilated cardiomyopathy (IDC) in 14%, arrhythmogenic right ventricular cardiomyopathy (ARVC) in 2%, left ventricular noncompaction in 2%, Brugada syndrome (BS) in 15%, long QT syndrome (LQTS) in 3%, and other conditions in 6%. Familial disease was confirmed in 164 (39%); 43% with HC, 47% with IDC, 25% with ARVC, 33% with left ventricular noncompaction, 28% with BS, and 30% with LQTS. Two hundred twenty-two (44 ± 20 years old, 60% men) affected relatives were identified (129 of whom were newly diagnosed). Sixty-four patients were newly diagnosed with HC, 40 with IDC, 2 with ARVC, 5 with left ventricular noncompaction, 14 with BS, and 2 with LQTS, in whom appropriate risk stratification and medication, if needed, were initiated (specific medication in 40, 31.0%). Cardioverter–defibrillator implantation was indicated in 4 relatives for primary prevention. Ninety-two (18.7%) had a family history of sudden death (FHSCD). Consanguinity was rare but significantly associated to a higher percentage of family disease (75.0% vs 38.3%, p = 0.003) and family history of sudden death (42.1% vs 17.8, p