Prenatal diagnosis and treatment planning of congenital heart defects-possibilities and limits

BACKGROUND: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation. DATA SOURCES: PubMed database was searched with terms of "congenital heart defects", "fetal echocardiography" and "neonatal cardiac surgery". RESULTS: At present, early prenatal detection has been applied for monitoring pregnancy to avoid intrauterine cardiac decompensation. In principle, the majority of congenital heart defects can be diagnosed by prenatal echocardiography and the detection rate is 85%-95% at tertiary perinatal centers. The majority, particularly of complex congenital lesions, show a steadily progressive course including subsequent secondary phenomena such as arrhythmias or myocardial insufficiency. So prenatal treatment of an abnormal fetus is an area of perinatal medicine that is undergoing a very dynamic development. Early postnatal treatment is established for some time, and prenatal intervention or palliation is at its best experimental stage in individual cases. CONCLUSION: The upcoming expansion of fetal cardiac intervention to ameliorate critically progressive fetal lesions intensifies the need to address issues about the adequacy of technological assessment and patient selection as well as the morbidity of those who undergo these procedures.

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility. The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function. Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage. This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

Ankyloglossia: facts and myths in diagnosis and treatment

BACKGROUND: The objective of this study was to systematically review the diagnostic criteria, indications, and need for treatment of ankyloglossia (tongue-tie), as well as the various treatment options for patients in different age groups. METHODS: The MEDLINE databases and the Cochrane Library were searched according to well-defined criteria, resulting in 64 included articles. The evidence regarding the classifications of tongue-tie, epidemiologic data, inheritance, breastfeeding problems, impaired tongue mobility, speech disorders, malocclusion, gingival recessions, therapy, and complications due to surgery was analyzed in detail. RESULTS: Different classifications for ankyloglossia have been proposed but not uniformly accepted. Breastfeeding problems in neonates could be associated with a tongue-tie, but not enough controlled trials have been performed to identify an ideal treatment option. In children and adults with ankyloglossia, limitations in tongue mobility are present, but the individual degree of discomfort, as well as the severity of an associated speech problem, are subjective and difficult to categorize. There is no evidence supporting the development of gingival recessions because of ankyloglossia. Frenotomy, frenectomy, and frenuloplasty are the main surgical treatment options to release/remove an ankyloglossia. Because of the limited evidence available, no specific surgical method can be favored. CONCLUSIONS: The lack of an accepted definition and classification of ankyloglossia makes comparisons between studies almost impossible. Because almost no controlled prospective trials for surgical interventions in patients with tongue-ties are present in the literature, no conclusive suggestions regarding the method of choice can be made. It also remains controversial which tongue-ties need to be surgically removed and which can be left to observation.

New insights regarding the incidence, presentation and treatment options of aorto-oesophageal fistulation after thoracic endovascular aortic repair: the European Registry of Endovascular Aortic Repair Complications

OBJECTIVES To review the incidence, clinical presentation, definite management and 1-year outcome in patients with aorto-oesophageal fistulation (AOF) following thoracic endovascular aortic repair (TEVAR). METHODS International multicentre registry (European Registry of Endovascular Aortic Repair Complications) between 2001 and 2011 with a total caseload of 2387 TEVAR procedures (17 centres). RESULTS Thirty-six patients with a median age of 69 years (IQR 56-75), 25% females and 9 patients (19%) following previous aortic surgery were identified. The incidence of AOF in the entire cohort after TEVAR in the study period was 1.5%. The primary underlying aortic pathology for TEVAR was atherosclerotic aneurysm formation in 53% of patients and the median time to development of AOF was 90 days (IQR 30-150). Leading clinical symptoms were fever of unknown origin in 29 (81%), haematemesis in 19 (53%) and shock in 8 (22%) patients. Diagnosis could be confirmed via computed tomography in 92% of the cases with the leading sign of a new mediastinal mass in 28 (78%) patients. A conservative approach resulted in a 100% 1-year mortality, and 1-year survival for an oesophageal stenting-only approach was 17%. Survival after isolated oesophagectomy was 43%. The highest 1-year survival rate (46%) could be achieved via an aggressive treatment including radical oesophagectomy and aortic replacement [relative risk increase 1.73 95% confidence interval (CI) 1.03-2.92]. The survival advantage of this aggressive treatment modality could be confirmed in bootstrap analysis (95% CI 1.11-3.33). CONCLUSIONS The development of AOF is a rare but lethal complication after TEVAR, being associated with the need for emergency TEVAR as well as mediastinal haematoma formation. The only durable and successful approach to cure the disease is radical oesophagectomy and extensive aortic reconstruction. These findings may serve as a decision-making tool for physicians treating these complex patients.

The lesser trochanter as a cause of hip impingement: pathophysiology and treatment options

Impingement of the lesser trochanter on the ischium or the posterior acetabular rim is not a frequent pathology, but has recently received increased recognition. We have seen 14 cases over a period of 14 years, but concentrate on eight hips showing complex deformities revealing similar characteristics. All eight hips had a residual Perthes or a Perthes-like disease with an elliptically deformed femoral head, but a congurent joint a short or absent femoral neck, a high riding greater trochanter, and a reduced vertical distance between the head and the lesser trochanter. Impingement took place between the lesser trochanter and the ischium or the posteroinferior acetabular border, but was hardly recognisable due to the predominant intraarticular impingement of the nonspherical femoral head and the extraarticular impingement of the greater trochanter. In three cases the impingement showed reproducible subluxation of the hip. While in our hips, excision was the preferred treatment for impingement due to an oversized lesser trochanter, distal advancement was used in the hips with the Perthes morphology; the surgical time was not longer. The overall clinical results in this group however were dominated by a substantial increase in the range of motion (ROM), dependent mainly on the achieved contour of the femoral head and the relative lengthening of the neck. Strength of active hip flexion was normal. Recurrent subluxation disappeared and no complications were recorded.

Incidence and treatment of developmental hip dysplasia in Mongolia: a prospective cohort study

BACKGROUND In Mongolia, adequate early diagnosis and treatment of developmental hip dysplasia (DDH) have been unavailable and its incidence was unknown. We determined the incidence of ultrasonographic DDH in newborns and established adequate procedures for diagnosis and treatment of DDH at the largest maternity hospital in Ulaanbaatar, Mongolia. METHODOLOGY/PRINCIPAL FINDINGS During one year (Sept 2010 - Aug 2011) we assessed the hips newborns using ultrasound and Graf's classification of DDH. 8,356 newborns were screened; median age at screening was 1 day. We identified 14,873 Type 1 (89.0%), 1715 Type 2a (10.3%), 36 Type 2c (0.2%), 70 Type D (0.4%), 14 Type 3 (0.08%), and 4 Type 4 hips (0.02%). Children with Type 1 hips (normal) were discharged. Children with Type 2a hips (physiologically immature) received follow-up ultrasounds at monthly intervals. Children with Type 2c to 4 (DDH; deformed or misaligned hip joint) hips were treated with a Tubingen hip flexion splint and also followed up. The hip abnormalities resolved to mature hips in all children who were followed up. There was no evidence for severe treatment related complications. CONCLUSION/SIGNIFICANCE This study suggests that the incidence of DDH in Mongolian neonates is comparable to that in neonates in Europe. Early ultrasound-based assessment and splinting treatment of DDH led to mature hips in all children followed up. Procedures are feasible and will be continued.

Late recurrent arrhythmias after ablation of atrial fibrillation: incidence, mechanisms, and treatment.

OBJECTIVES The aim of the study was to determine the incidence of atrial flutter and other arrhythmia recurrences (other than atrial fibrillation [AF]) during long-term follow-up after left atrial substrate modification by percutaneous radiofrequency (RF) ablation of AF. BACKGROUND RF ablation is an effective treatment for patients with AF. However, late recurrent arrhythmias may complicate the patient's course. METHODS One hundred fifty consecutive patients with paroxysmal or persistent AF were included in this prospective study. The incidence of arrhythmia recurrences after AF ablation was analyzed during long-term follow-up using repetitive 7-day ECG recording. RESULTS In 28 of 150 patients (18.7%), stable regular arrhythmias other than AF were detected during follow-up. Left atrial flutter observed in 10 patients (6.7%) was treated by recompletion of the ablation lines in all 10 patients. Left atrial flutter was associated with recurrence of AF in all 10 patients. Nine of 10 patients (90%) were free from atrial flutter and 6 of 10 patients were free from AF after the second intervention. Typical right atrial flutter occurred in 10 patients (6.7%) and was treated successfully by percutaneous RF ablation without recurrence in all patients. Additionally, atrial flutter was documented during follow-up in 7 patients (4.7%); however, invasive electrophysiologic evaluation was not performed due to various reasons. CONCLUSIONS Left atrial flutter is a relevant complication after RF catheter ablation of AF and was always associated with AF recurrence in our study population. Prevention of left atrial flutter can be achieved by induction of ablation lines as continuous and transmural as possible. However, left atrial flutter that does occur late after ablation is amenable to interventional treatment with good prospects of success.

Stable secondary arrhythmias late after intraoperative radiofrequency ablation of atrial fibrillation: incidence, mechanism, and treatment.

INTRODUCTION Intraoperative radiofrequency (RF) ablation is an effective treatment of atrial fibrillation (AF). However, secondary arrhythmias late after ablation may complicate the patient's course. We report on the incidence, mechanisms, and treatment of gap-related atrial flutter and other secondary arrhythmias during long-term follow-up. METHODS AND RESULTS In 129 patients who underwent intraoperative RF ablation with placement of left atrial linear lesions using minimally invasive surgical techniques, secondary arrhythmias were analyzed during long-term follow-up (20 +/- 6 months). Transient atrial arrhythmias during the first 3 postoperative months were excluded. In 8 (6.2%) of 129 patients, sustained stable secondary arrhythmias were documented. Left atrial, gap-related atrial flutter was observed in 4 patients (3.1%). The flutter was treated by percutaneous RF ablation in 3 patients (2.3%) and with drugs in 1 patient (0.8%). In 2 patients (1.6%), right atrial isthmus-dependent atrial flutter occurred and was treated successfully by percutaneous RF ablation. In 2 patients (1.6%), ectopic right atrial tachycardias occurred and were treated with percutaneous RF ablation. CONCLUSION Late after intraoperative RF ablation of atrial fibrillation, three types of stable secondary arrhythmias were observed in 6% of patients: left atrial gap-related atrial flutter, right atrial isthmus-dependent atrial flutter, and ectopic atrial tachycardia. Gaps after intraoperative RF ablation due to noncontinuous or nontransmural linear lesions may lead to stable left atrial macroreentrant tachycardias, requiring new interventional therapy.

B-type natriuretic peptide for diagnosis and treatment of congestive heart failure

BACKGROUND Prognostic classification of congestive heart failure (CHF) is difficult and only possible with the help of additional diagnostic tools. B-type natriuretic peptide (BNP) has been used as a diagnostic and prognostic marker for patients (pts) with CHF. In this study, the clinical value of BNP for stratification and treatment of pts with CHF was evaluated. PATIENTS AND METHODS 33 out-pts with CHF (age 57 +/- 12 years) were included. Left-ventricular (LV) ejection fraction (EF) was 27 +/- 8% (mean +/- SD) and NYHA-class 2.4 +/- 0.7. Following parameters were measured: BNP and sodium from blood samples, exercise performance from 6-minute walking test (6MWT, meters) (n = 18), LV end-diastolic diameter (LVEDD) and LV mass (LVM) from 2D-echocardiography (n = 33), as well as LV end-diastolic pressure (LVEDP, n = 23) and systemic vascular resistance (SVR, n = 20) from heart-catheterisation. Ten pts were hospitalised in the preceding 6 months because of worsening CHF or for optimisation of medical therapy. BNP was measured at the beginning and end of the hospital-stay. Follow-up was for 1 year. RESULTS Pts with a high NYHA-class had a higher BNP (pg/ml) than those with a low NYHA- class: NYHA I 51 +/- 20, II 281 +/- 223, III 562+/-346 and IV 1061 +/- 126 pg/ml (p = 0.002). BNP correlated with LVEDP (r = 0.50, p <0.02), SVR (r =0.49, p <0.03) and inversely with 6MWT (r =-0.60, p <0.009), LVEF (r = -0.49, p <0.004) and sodium (r = -0.36, p = 0.04). In the hospitalised pts, mean BNP (pg/ml) was 881 +/- 695 at admission,and 532 +/- 435 at discharge (n.s.). Decrease in BNPduring hospitalisation paralleled weight-loss and was significantly greater in patients with >1000 pg/ml BNP at admission (n = 5) as compared to the 5 patients with BNP <1000 (p <0.03). Patients with an adverse event during 1-year follow-up had significantly higher BNP both at steady-state (603 +/-359 pg/ml) and at time of decompensation than patients with a favourable outcome (227 +/- 218 pg/ml,p <0.001). CONCLUSIONS BNP correlates well with the clinical severity of CHF (NYHA-class) and is directly related to filling pressure (LVEDP), LV function(LVEF) and exercise performance (6 MWT). Furthermore, BNP has prognostic impact with regard to adverse clinical events.