Challenges in Accurate Diagnosis of HCC in FALD: A Case Series.

Patients with single ventricle cardiac disease palliated with Fontan procedures inevitably develop Fontan-Associated Liver Disease (FALD), which poses a significant risk for hepatocellular carcinoma (HCC). Standard imaging criteria for the diagnosis of cirrhosis are not reliable due to parenchymal heterogeneity of FALD. We present 6 cases to demonstrate our center's experience and the challenges in diagnosing HCC within this patient population.

Frequency of Ventricular Arrhythmias and Other Rhythm Abnormalities in Children and Young Adults With the Marfan Syndrome.

Patients with the Marfan syndrome (MFS) are at risk for sudden death. The contribution of arrhythmias is unclear. This study examines the prevalence of arrhythmias in children with the MFS and their relation to clinical and/or echocardiographic factors. Data from the Pediatric Heart Network randomized trial of atenolol versus losartan in MFS were analyzed (6 months to 25 years old, aortic root diameter z-score > 3.0, no previous aortic surgery and/or dissection). Baseline 24-hour ambulatory electrocardiographic monitoring was performed. Significant ventricular ectopy (VE) and supraventricular ectopy (SVE) were defined as ≥10 VE or SVE/hour, or the presence of high-grade ectopy. Three-year composite clinical outcome of death, aortic dissection, or aortic root replacement was analyzed. There were 274 analyzable monitors on unique patients from 11 centers. Twenty subjects (7%) had significant VE, 13 (5%) significant SVE; of these, 2 (1%) had both. None had sustained ventricular or supraventricular tachycardia. VE was independently associated with increasing number of major Ghent criteria (odds ratio [OR] = 2.13/each additional criterion, p = 0.03) and greater left ventricular end-diastolic dimension z-score (OR = 1.47/each 1 unit increase in z-score, p = 0.01). SVE was independently associated with greater aortic sinotubular junction diameter z-score (OR = 1.56/each 1 unit increase in z-score, p = 0.03). The composite clinical outcome (14 events) was not related to VE or SVE (p ≥ 0.3), but was independently related to heart rate variability (higher triangular index). In conclusion, in this cohort, VE and SVE were rare. VE was related to larger BSA-adjusted left ventricular size. Routine ambulatory electrocardiographic monitoring may be useful for risk stratification in select MFS patients.

Feasibility of Intraoperative Extubation in Pediatric Heart Transplantation.

Based on described benefits of fast-tracking and early extubation in children undergoing congenital heart surgery, we applied this concept to selected children following uncomplicated orthotopic heart transplantation (OHT). In this case series, we report four patients who were extubated immediately after surgery in the operating room. A mild respiratory acidosis and hypercapnia were noted on the initial arterial blood gases, were well tolerated, and were normalized within 6 to 12 hours. There was no mortality among patients who were extubated in the operating room, and no patients required reintubation. We conclude that operating room extubation is feasible in selected patients undergoing OHT.

Percutaneous closure of left ventricular pseudoaneurysm.

The risk of rupture of a left ventricular (LV) pseudoaneurysm ranges from 30% to 45% in the first year. Open surgical repair carries high mortality related to anatomic complexity and patient comorbidities. Percutaneous closure may offer a viable alternative to surgical intervention in this cohort. Herein, we describe 3 unique cases of transcatheter LV pseudoaneurysm closure.

Transcatheter closure of recurrent postmyocardial infarction ventricular septal defect facilitated by percutaneous left ventricle access.

We report a case of a 68-year-old woman with a basal postmyocardial infarction ventricular septal defect that recurred 4 months after initial surgical repair. Successful transcatheter closure using an Amplatzer Muscular VSD Occluder was facilitated by direct percutaneous left ventricular access.

Transcatheter repair of perivalvular regurgitation.

Hemodynamically significant perivalvular regurgitation affects about 1.5% of all prosthetic valve implants. Reoperation carries increased risk--especially in the setting of concomitant comorbidities of left ventricular dysfunction, prior coronary artery bypass grafts, renal dysfunction, and advanced age. Transcatheter closure of the perivalvular regurgitant channel using a variety of occluders has been available for several years; however, recent improvements in technology and technique have made this therapy more effective and available to a wider group of patients. This article describes the recent advances and the state of the art of this therapy.

A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

BACKGROUND: Identification of infants at risk for sudden arrhythmic death remains one of the leading challenges of modern medicine. We present a family in which a common polymorphism (single nucleotide polymorphism) inherited from the father, combined with a stop codon mutation inherited from the mother (both asymptomatic), led to 2 cases of sudden infant death. METHODS AND RESULTS: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, CACNA1c, CACNB2b, and KCNJ2 genes were amplified and analyzed by direct sequencing. Functional electrophysiological studies were performed with the single nucleotide polymorphism and mutation expressed singly and in combination in Chinese ovary (CHO-K1) and COS-1 cells. An asymptomatic woman presenting after the death of her 2-day-old infant and spontaneous abortion of a second baby in the first trimester was referred for genetic analysis. The newborn infant had nearly incessant ventricular tachycardia while in utero and a prolonged QTc (560 ms). The mother was asymptomatic but displayed a prolonged QTc. Genetic screening of the mother revealed a heterozygous nonsense mutation (P926AfsX14) in KCNH2, predicting a stop codon. The father was asymptomatic with a normal QTc but had a heterozygous polymorphism (K897T) in KCNH2. The baby who died at 2 days of age and the aborted fetus inherited both K897T and P926AfsX14. Heterologous coexpression of K897T and P926AfsX14 led to loss of function of HERG current much greater than expression of K897T or P926AfsX14 alone. CONCLUSIONS: Our data suggest that a common polymorphism (K897T) can markedly accentuate the loss of function of mildly defective HERG channels, leading to long-QT syndrome-mediated arrhythmias and sudden infant death.

Postrenal biopsy AVM leading to severe hypertension and dilated cardiomyopathy.

A 3-year-old girl with Alport syndrome presented with decompensated heart failure from hypertension-induced cardiomyopathy 6 months following renal biopsy. Selective renal angiography revealed a large left renal arteriovenous fistula (AVF) with poor perfusion to the left renal parenchyma. The AVF was treated by transcatheter embolization using an Amplatzer vascular plug. Her blood pressure normalized after embolization, and her cardiac function normalized over the following 4 months.

Percutaneous closure of a patent foramen ovale in left-sided carcinoid heart disease.

BACKGROUND: A 51-year-old woman with a 5-year history of metastatic small bowel carcinoid disease developed fatigue and gradually worsening dyspnea on exertion, over 6 months. INVESTIGATIONS: Physical examination, transthoracic and transesophageal echocardiography, and aortography. DIAGNOSIS: Left-sided carcinoid disease associated with a patent foramen ovale. MANAGEMENT: Percutaneous transcatheter closure of the patent foramen ovale.

Mechanism and therapy of cardiac arrhythmias in adults with congenital heart disease.

Over the past few decades, surgical advances have helped to prolong the lives of many young patients with congenital heart disease (CHD). However, as these patients reach adulthood, they are at risk for many late sequelae of their disease or of their corrective surgery. One of the unique challenges associated with CHD is the high incidence of cardiac arrhythmias that arise from the myocardial substrate created by abnormal pressure/volume changes, septal patches, and suture lines. Medical therapy has proven to be disappointing in treating a majority of these cases. Nonetheless, radiofrequency catheter ablation (RFA), an effective tool in treating atrial and ventricular arrhythmias in structurally normal hearts, has been used to treat arrhythmias in adults with congenital heart disease. This review will discuss some of the common congenital heart diseases in adults and the arrhythmias associated with them, as well as the therapeutic modalities used to treat them. Finally, it will present Mount Sinai Hospital's experience in using RFA for the management of cardiac arrhythmias in adults with congenital heart disease.

Staged repair of tetralogy of Fallot and diminutive pulmonary arteries with a fenestrated ventricular septal defect patch.

OBJECTIVES: Patients with tetralogy of Fallot and diminutive pulmonary arteries are at risk for suprasystemic right ventricular pressure and right ventricular failure after complete repair. We report the short-term outcome and medium-term follow-up after using a fenestrated ventricular septal defect patch as a component of staged repair in selected patients. METHODS: We reviewed 47 patients with tetralogy of Fallot and diminutive pulmonary arteries whose ventricular septal defect patch was fenestrated, either electively or as a rescue technique, at a single institution between 1984 and 2001. RESULTS: Early mortality was 10.6% and occurred only in patients who underwent rescue fenestration. Review of medium-term follow-up (median, 39 months) revealed 4 late deaths; an additional 4 patients experienced right ventricular failure despite fenestration. Most (7/8) of these late events occurred in patients who underwent planned fenestration. Excessive left-to-right shunt through the fenestration developed in only 2 patients. CONCLUSIONS: Fenestrated patch closure of the ventricular septal defect in patients with tetralogy of Fallot and diminutive pulmonary arteries resulted in 10.6% early mortality. Used preemptively in selected patients, this technique is associated with no surgical mortality and a low incidence of excessive left-to-right shunt (4%). Early survivors remain at risk for late death and right ventricular failure despite fenestration.