OBJECTIVES: This prospective study was performed to analyze the frequency and clinical characteristics of idiopathic dilated cardiomyopathy (DCM). BACKGROUND: Despite several previous reports on families with DCM, most cases are still believed to be sporadic, and specific clinical findings of the familial form are not well defined. METHODS: In 445 consecutive patients with angiographically proven DCM, we obtained detailed family histories to construct pedigrees and examined 970 first- and second-degree family members. RESULTS: Familial DCM was confirmed in 48 (10.8%) of the 445 index patients and was suspected in 108 (24.2%). The 156 patients with suspected or confirmed familial disease were younger at the time of diagnosis (p < 0.03) and more often revealed electrocardiographic changes (p = 0.0003) than patients with nonfamilial disease. Among the families of the 48 index patients with confirmed familial disease, five phenotypes of familial DCM could be identified: 1) DCM with muscular dystrophy; 2) juvenile DCM with a rapid progressive course in male relatives without muscular dystrophy; 3) DCM with segmental hypokinesia of the left ventricle; 4) DCM with conduction defects; and 5) DCM with sensorineural hearing loss. CONCLUSIONS: Up to 35% of patients with DCM may have an inherited disorder. Distinct clinical phenotypes can be observed in some families, suggesting a common molecular cause of the disease.
OBJECTIVES: This prospective study was performed to analyze the frequency and clinical characteristics of idiopathic dilated cardiomyopathy (DCM). BACKGROUND: Despite several previous reports on families with DCM, most cases are still believed to be sporadic, and specific clinical findings of the familial form are not well defined. METHODS: In 445 consecutive patients with angiographically proven DCM, we obtained detailed family histories to construct pedigrees and examined 970 first- and second-degree family members. RESULTS:Familial DCM was confirmed in 48 (10.8%) of the 445 index patients and was suspected in 108 (24.2%). The 156 patients with suspected or confirmed familial disease were younger at the time of diagnosis (p < 0.03) and more often revealed electrocardiographic changes (p = 0.0003) than patients with nonfamilial disease. Among the families of the 48 index patients with confirmed familial disease, five phenotypes of familial DCM could be identified: 1) DCM with muscular dystrophy; 2) juvenile DCM with a rapid progressive course in male relatives without muscular dystrophy; 3) DCM with segmental hypokinesia of the left ventricle; 4) DCM with conduction defects; and 5) DCM with sensorineural hearing loss. CONCLUSIONS: Up to 35% of patients with DCM may have an inherited disorder. Distinct clinical phenotypes can be observed in some families, suggesting a common molecular cause of the disease.
Authors: Jeanne L Theis; Katharine M Sharpe; Martha E Matsumoto; High Seng Chai; Asha A Nair; Jason D Theis; Mariza de Andrade; Eric D Wieben; Virginia V Michels; Timothy M Olson Journal: Circ Cardiovasc Genet Date: 2011-09-30
Authors: Marwan M Refaat; Steven A Lubitz; Seiko Makino; Zahid Islam; J Michael Frangiskakis; Haider Mehdi; Rebecca Gutmann; Michael L Zhang; Heather L Bloom; Calum A MacRae; Samuel C Dudley; Alaa A Shalaby; Raul Weiss; Dennis M McNamara; Barry London; Patrick T Ellinor Journal: Heart Rhythm Date: 2011-10-17 Impact factor: 6.343
Authors: Daniel Vega Møller; Paal Skytt Andersen; Paula Hedley; Mads Kristian Ersbøll; Henning Bundgaard; Johanna Moolman-Smook; Michael Christiansen; Lars Køber Journal: Eur J Hum Genet Date: 2009-03-18 Impact factor: 4.246