OBJECTIVE: To investigate the overall occurrence of congenital heart disease in 103 pedigrees with a proband affected with atrioventricular canal. DESIGN: Family study of patient series. SETTING: Department of Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy. PARTICIPANTS: One hundred three consecutive patients with atrioventricular canal and normal karyotype and their first- and second-degree relatives. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: In 12 pedigrees (11.7%), one or more relatives had concordant or discordant congenital heart disease. Congenital heart disease occurred in four (1.9%) of the 206 parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%) of the 644 uncles or aunts. None of the grandparents had congenital heart disease. Atrioventricular canal affected several family members in five pedigrees. CONCLUSIONS: Familial aggregation of atrioventricular canal in several pedigrees requires careful collection of family histories, accurate cardiologic evaluation of the first- and second-degree relatives of the probands, and fetal echocardiography in all pregnant women in at-risk families.
OBJECTIVE: To investigate the overall occurrence of congenital heart disease in 103 pedigrees with a proband affected with atrioventricular canal. DESIGN: Family study of patient series. SETTING: Department of Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy. PARTICIPANTS: One hundred three consecutive patients with atrioventricular canal and normal karyotype and their first- and second-degree relatives. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: In 12 pedigrees (11.7%), one or more relatives had concordant or discordant congenital heart disease. Congenital heart disease occurred in four (1.9%) of the 206 parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%) of the 644 uncles or aunts. None of the grandparents had congenital heart disease. Atrioventricular canal affected several family members in five pedigrees. CONCLUSIONS:Familial aggregation of atrioventricular canal in several pedigrees requires careful collection of family histories, accurate cardiologic evaluation of the first- and second-degree relatives of the probands, and fetal echocardiography in all pregnant women in at-risk families.
Authors: Maria Cristina Digilio; Francesca Romana Lepri; Maria Lisa Dentici; Alex Henderson; Anwar Baban; Maria Cristina Roberti; Rossella Capolino; Paolo Versacci; Cecilia Surace; Adriano Angioni; Marco Tartaglia; Bruno Marino; Bruno Dallapiccola Journal: Eur J Hum Genet Date: 2012-07-11 Impact factor: 4.246
Authors: Paolo Versacci; Flaminia Pugnaloni; Maria Cristina Digilio; Carolina Putotto; Marta Unolt; Giulio Calcagni; Anwar Baban; Bruno Marino Journal: J Cardiovasc Dev Dis Date: 2018-05-02
Authors: Sabrina G Ellesøe; Christopher T Workman; Patrice Bouvagnet; Christopher A Loffredo; Kim L McBride; Robert B Hinton; Klaartje van Engelen; Emma C Gertsen; Barbara J M Mulder; Alex V Postma; Robert H Anderson; Vibeke E Hjortdal; Søren Brunak; Lars A Larsen Journal: Eur Heart J Date: 2018-03-21 Impact factor: 29.983