CHARGE syndrome and congenital heart diseases: systematic review of literature.

CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth aortic arch (PFAA). Demographic, clinical and outcome data were extracted and analyzed. Sixty-eight studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus (PDA) 26%, ventricular (VSD) 21%, atrial septal defects (ASD) 18%, tetralogy of Fallot 11%, aortic abnormalities 24%. PFAA has not been previously reported in CS. Cardiac surgery was performed in more than half of CS patients (150/242, 62%). In-hospital mortality rate was about 9.5% (n=86/900) in case series studies and 12% (n=5/43) in case reports, including cardiovascular (CV) and non-CV causes. CHDs and feeding disorders associated with CS may have a substantial impact on prognosis. CHDs were usually associated with CS and represent important causes of morbidity and mortality. PFAA, although rare, may also be present. The prognosis is highly dependent on the presence of cardiac and non-cardiac developmental abnormalities. Further studies are needed to better identify the main causes of the long-term outcome of CS patients.

Genetics of Takotsubo Syndrome.

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. A genetic predisposition has been suggested based on the few familial TTS cases. Conflicting results have been published regarding the role of functional polymorphisms in relevant candidate genes, such as α1-, ß1-, and ß2-adrenergic receptors; G protein-coupled receptor kinase 5; and estrogen receptors. Further research is required to help clarify the role of genetic susceptibility in TTS.

Ultrasound-guided central venous catheter placement through the axillary vein in cardiac critical care patients: safety and feasibility of a novel technique in a prospective observational study.

BACKGROUND: Central venous catheterization is essential for careful administration of fluids and drugs in cardiac critical care patients. The axillary vein might represent an alternative to subclavian and jugular vein accesses, with the advantage of being extra-thoracic, more distal from the pleural space and with more likehood of comfort for the patient. Conventional ultrasound-guided cannulation of the axillary vein is technically demanding and does not guarantee precise visualization of the needle tip. METHODS: We describe a new in-plane technique with a dedicated bracket support for the needle, giving full tip control and continuous visualization of the tip and vessel, making the maneuver easier and safer. In a prospective observational study we also report the feasibility and safety of the novel procedure in a series of 35 cardiac critical care patients, also receiving non-invasive ventilatory support and/or being fully anti-coagulated. RESULTS: With the novel technique, we obtained 97% success with procedural times comparable to other insertion sites and without complications. CONCLUSIONS: Placement of a central line catheter in the axillary vein using a novel ultrasound-guided bracket-assisted technique may be a feasible, safe and rapid alternative to the conventional jugular and subclavian approaches.

Malignant Cough Syncope from Idiopathic Vagal Inflammation.

We describe the case of a patient with malignant vasodepressive cough syncope. We demonstrated a vaso-vagal mechanism related to left vagal neuritis, by means of laryngoscopy and laryngeal electromyography. The condition resolved with steroid therapy. LEARNING POINTS: Left vagal neuritis should be considered in the differential diagnosis of recent onset repetitive loss of consciousness, in particular if cough related.Steroids were used to successfully treat recent onset cough-related syncope.Relatively simple trials of drug therapy can sometimes avoid intensive investigations; in our case, the use of a systemic steroid would probably have avoided many radiological and endoscopic examinations.

The Role of Multimodality Cardiac Imaging for the Assessment of Sports Eligibility in Patients with Bicuspid Aortic Valve.

Bicuspid aortic valve (BAV) cannot be considered an innocent finding, but it is not necessarily a life-threatening condition. Athletes with BAV should undergo a thorough staging of the valve anatomy, taking into consideration hemodynamic factors, as well as aortic diameters and looking for other associated significant cardiovascular anomalies by use of a multimodality cardiac imaging approach. Furthermore an accurate follow-up is mandatory with serial cardiological controls in those allowed to continue sports.