Abbie Hageman

Pheochromocytoma and Paraganglioma in Cyanotic Congenital Heart Disease

CONTEXT Aberrant cellular oxygen sensing is a leading theory for development of pheochromocytoma (PHEO) and paraganglioma (PGL). OBJECTIVE The objective of the study was to test the hypothesis that chronic hypoxia in patients with cyanotic congenital heart disease (CCHD) increases the risk for PHEO-PGL. DESIGN/SETTING/PARTICIPANTS We investigated the association between CCHD and PHEO-PGL with two complementary studies: study 1) an international consortium was established to identify congenital heart disease (CHD) patients with a PHEO-PGL diagnosis confirmed by pathology or biochemistry and imaging; study 2) the 2000-2009 Nationwide Inpatient Survey, a nationally representative discharge database, was used to determine population-based cross-sectional PHEO-PGL frequency in hospitalized CCHD patients compared with noncyanotic CHD and those without CHD using multivariable logistic regression adjusted for age, sex, and genetic PHEO-PGL syndromes. RESULTS In study 1, we identified 20 PHEO-PGL cases, of which 18 had CCHD. Most presented with cardiovascular or psychiatric symptoms. Median cyanosis duration for the CCHD PHEO-PGL cases was 20 years (range 1-57 y). Cases were young at diagnosis (median 31.5 y, range 15-57 y) and 7 of 18 had multiple tumors (two bilateral PHEO; six multifocal or recurrent PGL), whereas 11 had single tumors (seven PHEO; four PGL). PGLs were abdominal (13 of 17) or head/neck (4 of 17). Cases displayed a noradrenergic biochemical phenotype similar to reported hypoxia-related PHEO-PGL genetic syndromes but without clinical signs of such syndromes. In study 2, hospitalized CCHD patients had an increased likelihood of PHEO-PGL (adjusted odds ratio 6.0, 95% confidence interval 2.6-13.7, P < .0001) compared with those without CHD; patients with noncyanotic CHD had no increased risk (odds ratio 0.9, P = .48). CONCLUSIONS There is a strong link between CCHD and PHEO-PGL. Whether these rare diseases coassociate due to hypoxic stress, common genetic or developmental factors, or some combination requires further investigation.

Transcatheter melody valve placement in large diameter bioprostheses and conduits: What is the optimal "Landing zone"?

This study sought to elucidate the optimal bioprosthetic valve (BPV) size prior to Melody valve implantation. Background: BPVs provide an ideal “landing zone” for future Melody valve insertion. To guide surgical choice of BPV size, it is important to understand which BPV size can serve consistently as substrates for Melody valve placements.

Incidence and outcome of infective endocarditis following percutaneous versus surgical pulmonary valve replacement

To provide a comparison of the outcome of infective endocarditis (IE) in patients undergoing transcatheter pulmonary valve replacement (TPVR) versus surgical pulmonary valve replacement (SPVR).

Apparent Life-Threatening Events in Infants Two Unique Presentations of Rare Cardiac Diseases

An apparent life-threatening event (ALTE) is a subjective description of an acute unexpected change in an infant’s behavior that is frightening to the parent or caregiver. ALTE is usually described as an episode of apnea, color change, hypotonia, decreased responsiveness, convulsions, choking, or gagging. The classification of ALTE is important for guiding the types of diagnostic studies needed, assessing patient prognosis, and for developing a treatment plan. Cardiac etiologies of ALTE are rare and can be associated with serious risk of sudden cardiac arrest (SCA). Cardiac diseases and abnormalities account for less than 5% of cases of ALTE in infants. We describe 2 infants who presented with an ALTE manifest by complete loss of consciousness with agitation and crying. Both patients were diagnosed with rare cardiac diseases. Although it is not uncommon for hypertrophic obstructive cardiomyopathy or cardiac myxoma to present as syncope in children and adults, it has not been well documented in infants. In both patients, obstruction of the heart’s outflow tracts resulted in decreased cardiac output leading to an ALTE.