Adolescent Kawasaki disease: usefulness of 64-slice CT coronary angiography for follow-up investigation.

BACKGROUND: Kawasaki disease (KD) is a systemic vasculitis that mainly affects coronary arteries in children, and requires regular follow-up from the time of diagnosis. OBJECTIVE: To evaluate the feasibility of 64-slice CT angiography (CTA) for follow-up of patients with KD using previously performed invasive catheter coronary angiography (CCA) as reference standard. MATERIALS AND METHODS: The study group comprised 12 patients (age 17.6 ± 2.9 years, mean ± SD) with a diagnosis of KD and a previously performed CCA (interval, 32.6 ± 13.5 months) who underwent 64-slice cardiac CTA. The quality of the images for establishing the presence of coronary abnormalities was determined by two observers. The CTA findings were compared with those from the prior CCA. RESULTS: Adequate image quality was obtained in all patients. Mean effective dose for CTA was 6.56 ± 0.95 mSv. CTA allowed accurate identification, characterization and measurement of all coronary aneurysms (n = 32), stenoses (n = 3) and occlusions (n = 9) previously demonstrated by CCA. One patient with disease progression went on to have percutaneous coronary intervention. CONCLUSION: Coronary lesions were reliably evaluated by 64-slice CTA in the follow-up of compliant patients with KD, reducing the need for repeated diagnostic invasive CCA. Hence, in an adequately selected patient population, the role of CCA could be limited almost only to therapeutic procedures.

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.

Familial recurrence of congenitally corrected transposition of the great arteries (CCTGA) is considered uncommon. Most of the previous familial studies involved a small number of patients and referred to all situs and looping anomalies including single ventricle, heterotaxia, and other cardiac defects different from CCTGA. We performed a large, consecutive clinical case series study in order to detect the recurrence of congenital heart defects in families of children with the classic form of CCTGA. From January 1997 through December 2004, 102 consecutive patients with CCTGA were evaluated in four institutions. There were 59 male (57.8%) and 43 female (42.2%). Mean age was 8.6 +/- 7.8 years. Eighty-eight patients (86.3%) had situs solitus of the atria, 14 (13.7%) situs inversus. The cardiac and extracardiac anomalies among relatives and the patterns of familial recurrence were investigated. Relatives with congenital heart defects were found in 16/102 families (15.7%). Transposition of the great arteries (TGA) was the most common recurrent defect (6/102 families). Consanguinity was identified in the parents of three probands. Six probands had an unaffected twin-sib. Recurrence risks for congenital heart defects were calculated at 5.2% (6/116) for siblings. In conclusion, CCTGA is not always sporadic in families. The pattern of inheritance, the presence of consanguinity among parents and the recurrence of situs inversus could suggest, in some families, an autosomal recessive mechanism with similarities with that occurring in some pedigrees with heterotaxia. The recurrence of TGA and CCTGA in the same family suggests a pathogenetic link between these two anatomically different malformations.

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.

Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.