SOS1-Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?

Noonan syndrome (NS) is a predominantly autosomal dominant condition with various cardiac and extra-cardiac manifestations. Although it has been linked with atrial arrhythmias, ventricular arrhythmias are extremely rare in the absence of underlying structural cardiac abnormalities. We report an instance of aborted sudden cardiac arrest in a 7-year-old male with a confirmed SOS1 variant and a lack of evidence to support a structural cardiac, metabolic, or infectious etiology.

Pediatric Quadricuspid Aortic Valve: Morphology, Characteristics, Clinical Outcomes, and Literature Review.

Background: Quadricuspid aortic valve (QAV) is an exceedingly rare congenital heart defect (CHD) which has not been well-defined in a pediatric population.

Methods: The Mayo Clinic echocardiography database was retrospectively analyzed to identify patients ≤18 years diagnosed with QAV from January 1990 to December 2023. Patients with truncus arteriosus were excluded.

Perforated posterior mitral valve leaflet in mitral annular disjunction and infective endocarditis.

We herein presented a 17-year-old female with history of mild mitral valve prolapse who was admitted for methicillin-sensitive endocarditis and diagnosed with mitral annular disjunction and perforated posterior mitral valve leaflet on two-dimensional and three-dimensional echocardiography (P-P). A perforation in the posterior leaflet was confirmed and repaired during surgical intervention. This is a rare presentation of leaflet perforation in the area of mitral annular disjunction.

Fontan Palliation in Patients with Heterotaxy Syndrome: A Five Decade Experience.

Background: Patients with heterotaxy syndromes (right and left atrial isomerism) are at high risk of poor outcomes after single-ventricle palliation. However, the long-term outcomes and specific parameters associated with poor outcomes are incompletely understood.

Methods: A retrospective review was performed of all patients with atrial isomerism who had a Fontan at our institution from 1973 to 2020.

Outcomes of Biventricular and Single Ventricle Heterotaxy Patients: A Single Center Five-Decade Experience.

Background: Surgical palliation of patients with heterotaxy syndrome has proven challenging. Long-term outcomes have historically been poor. Factors contributing to these outcomes are not completely understood.

Massive pulmonary embolism treated with low-dose thrombolysis on the geriatric ward during the COVID-19 pandemic.

A man in his 70s was admitted to hospital due to a fall, urinary tract infection and delirium. The patient had a 'do not attempt cardiopulmonary resuscitation' order in place and a ward-based ceiling of care was agreed. He tested positive for COVID-19 while on a geriatric ward and subsequently developed bilateral pulmonary emboli with haemodynamic instability.

Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.

Background: Whole-genome sequencing in families enables deciphering of congenital heart disease causes. A shared genetic basis for familial bicuspid aortic valve (BAV) and hypoplastic left heart syndrome (HLHS) was postulated.

Methods: Whole-genome sequencing was performed in affected members of 6 multiplex BAV families, an HLHS cohort of 197 probands and 546 relatives, and 813 controls.

Systemic Semilunar Valve Repair/Replacement With Fontan Circulation: The Mayo Clinic Experience.

There is a paucity of literature regarding systemic semilunar valve (SSLV) dysfunction in patients with Fontan circulation. We sought to describe our center's 47-year experience with systemic semilunar valve replacement or repair (SSLVR) in patients with Fontan circulation. The Mayo Clinic Fontan Database is a comprehensive institutional database that stores clinical information of 1176 patients from 1973 to 2021.

Acute Kidney Injury and Renal Replacement Therapy After Fontan Operation.

Fontan circulation leads to chronic elevation of central venous pressure. We sought to identify the incidence, risk factors, and survival among patients who developed acute kidney injury (AKI) after the Fontan operation. We retrospectively reviewed 1,166 patients who had Fontan operation/revision at Mayo Clinic Rochester from 1973 to 2017 and identified patients who had AKI (defined by AKI Network criteria) within 7 days of surgery.

Adaptations of paediatric cardiology practice during the COVID-19 pandemic.

During the initial surge of the COVID-19 pandemic in the spring and summer of 2020, paediatric heart centres were forced to rapidly alter the way patient care was provided to minimise interruption to patient care as well as exposure to the virus. In this survey-based descriptive study, we characterise changes that occurred within paediatric cardiology practices across the United States and described provider experience and attitudes towards these changes during the pandemic. Common changes that were implemented included decreased numbers of procedures, limiting visitors and shifting towards telemedicine encounters.

Sex Differences in Children and Young Adults With Bicuspid Aortic Valve Disease in First Two Decades of Life.

Objective: To elucidate sex differences in valve morphology, disease phenotype, progression, and outcomes among children and young adults with bicuspid aortic valve (BAV).

Patients And Methods: This is a retrospective cohort study examining all children and young adults (aged ≤22 years) with isolated BAV diagnosed, by excluding patients with concomitant congenital heart defects or genetic syndromes, from January 1, 1990, through December 1, 2016, at Mayo Clinic in Rochester, Minnesota.

Results: Of 1010 patients with BAV, 558 had isolated BAV.

Left Cardiac Sympathetic Denervation Monotherapy in Patients With Congenital Long QT Syndrome.

Background: Videoscopic left cardiac sympathetic denervation (LCSD) is an effective antifibrillatory, minimally invasive therapy for patients with potentially life-threatening arrhythmia syndromes like long QT syndrome (LQTS). Although initially used primarily for treatment intensification following documented LQTS-associated breakthrough cardiac events while on beta-blockers, LCSD as 1-time monotherapy for certain patients with LQTS requires further evaluation. We are presenting our early experience with LCSD monotherapy for carefully selected patients with LQTS.

Role of a Pediatric Cardiologist in the COVID-19 Pandemic.

Coronavirus disease 2019 (COVID-19) has affected patients across all age groups, with a wide range of illness severity from asymptomatic carriers to severe multi-organ dysfunction and death. Although early reports have shown that younger age groups experience less severe disease than older adults, our understanding of this phenomenon is in continuous evolution. Recently, a severe multisystem inflammatory syndrome in children (MIS-C), with active or recent COVID-19 infection, has been increasingly reported.

Effect of Earlier Atrioventricular Valve Intervention on Survival After the Fontan Operation.

Whereas the prevalence and impact of atrioventricular valve (AVV) regurgitation in patients with single ventricle physiology has become increasingly apparent, the optimal timing for valve intervention is unclear. To investigate this, we performed a retrospective review of all 1,167 patients from the Mayo Clinic Fontan database. Thirteen percent (153 patients) had AVV repair or replacement during their staged single ventricle palliation.

Loss of Ventricular Function After Bidirectional Cavopulmonary Connection: Who Is at Risk?

Decline of single ventricle systolic function after bidirectional cavopulmonary connection (BDCPC) is thought to be a transient phenomenon. We analyzed ventricular function after BDCPC according to ventricular morphology and correlated this evolution to long-term prognosis. A review from Mayo Clinic databases was performed.