Cascade screening in families with inherited cardiac diseases driven by cardiologists: feasibility and nationwide outcome in long QT syndrome.

OBJECTIVES: We assessed the outcome of cascade screening of families with congenital long QT syndrome (LQTS) in Danish heart centers. METHODS: Affected family members were identified through systematic family screening. RESULTS: In total, 228 affected relatives were identified from 90 families. A disease-causing mutation useful for presymptomatic genetic testing was found in 82% of probands. Two-thirds of affected relatives fulfilled electrocardiographic criteria for the diagnosis, whereas diagnosis was based on genetic findings in only one-third. The majority of affected relatives were asymptomatic. Symptomatic relatives and probands most often presented with syncope, followed by aborted cardiac arrest and sudden cardiac death. A serious cardiac event (SCE, such as syncope, aborted cardiac arrest or cardiac arrest) was reported by 32% of affected relatives and 87% of probands (p < 0.0001). Fifty-two percent of affected relatives were on ß-blockers and 11% had an implantable cardioverter defibrillator (ICD), as compared to 88 and 49% of probands (p < 0.0001). Appropriate ICD therapy was given to 13% of affected relatives and to 27% of probands (p = 0.1). CONCLUSIONS: Clinically driven cascade screening of Danish LQTS families identified 2-3 affected relatives per proband. Affected relatives had milder disease courses, but SCEs in a subset strongly support screening. Danish cardiologists have adopted cascade screening of LQTS families according to specific Danish guidelines.

Somatic growth in 94 single ventricle children -- comparing systemic right and left ventricle patients.

AIM: We sought to compare and assess growth in single ventricle children with a systemic right or left ventricle in five time periods: at birth, before neonatal surgery, before the Glenn anastomosis and finally before and after the Fontan operation to 11 years of age. METHODS: We reviewed medical records on 116 single ventricle patients operated at Rigshospitalet, Denmark from 1987 to 2007. Surgical procedures, feeding route, hemodynamic variables and anthropometric measurements such as weight and height were registered and converted to z-scores. RESULTS: Ninety four single ventricle patients were included for analysis. Gestational age and birth weight was not significantly different between the left and right ventricle group. Before neonatal surgery and before the Glenn anastomosis, both groups showed equal growth retardation. However, a significant difference in catch-up growth was found before the Fontan operation. Thus, patients in the right ventricle group had a smaller median weight-for-age z-score compared with the left ventricle group in the pre-Fontan period (-1.9 and -1.6; p = 0.049) and in the post-Fontan period (-1.1 and -0.7; p = 0.034). CONCLUSION: After the Glenn anastomosis single ventricle children with a systemic left ventricle have better weight gain compared with children with a systemic right ventricle.

A misinterpreted case of aorta prosthesis endocarditis: remember the phenomenon of microbubbles.

A 17-year-old male with a history of newly implanted mechanical valve at the aortic position, presented with fever, rigors, and painful cutaneous abscesses on his lower extremities and was suspected for infective endocarditis. Transthoracic echocardiography (TTE) showed a vegetation-like structure following the movement of the mechanical heart valve (MHV), which eventually proved to be a product of degassing microbubbles (MB).

Atrial standstill presenting as cerebral infarction in a 7-year-old girl.

Atrial standstill is a rare arrhythmia defined by the absence of mechanical and electrical activity in the atria. Few cases of atrial standstill have been described in children, none of which have presented with cerebral infarction confirmed by imaging. We report a unique case of a 7-year-old girl presenting with expressive aphasia, central facial palsy and irregular pulse with cerebral infarction secondary to atrial standstill. This case illustrates that cardiogenic cerebral embolism in children can be caused by rare conditions like atrial standstill and should be considered in paediatric patients undergoing evaluation for stroke. There are no established treatment guidelines for atrial standstill. We recommend that treatment be directed towards any potential underlying cause. All patients with atrial standstill should receive long-term oral anticoagulation treatment and a permanent cardiac pacemaker implant to reduce the risk of further strokes or other cardiac events.