The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome.

BACKGROUND: Marfan syndrome is a genetic disease, presenting with dysfunction of connective tissues leading to lesions in the cardiovascular and skeletal muscle system. Within these symptoms, the most typical is weakness of the connective tissue in the aorta, manifesting as aortic dilatation (aneurysm). This could, in turn, become annuloaortic ectasia, or life-threatening dissection. As a result, life-saving and preventative cardiac surgical interventions are frequent among Marfan syndrome patients. Aortic aneurysm could turn into annuloaortic ectasia or life-threatening dissection, thus life-saving and preventive cardiac surgical interventions are frequent among patients with Marfan syndrome. We hypothesized that patients with Marfan syndrome have different level of anxiety, depression and satisfaction with life compared to that of the non-clinical patient population. METHODS: Patients diagnosed with Marfan syndrome were divided into 3 groups: those scheduled for prophylactic surgery, those needing acute surgery, and those without need for surgery (n = 9, 19, 17, respectively). To examine the psychological features of the patients, Spielberger's anxiety (STAI) test, Beck's Depression questionnaire (BDI), the Berne Questionnaire of Subjective Well-being, and the Satisfaction with Life scale were applied. RESULTS: A significant difference was found in trait anxiety between healthy individuals and patients with Marfan syndrome after acute life-saving surgery (p < 0.01). The mean score of Marfan syndrome patients was 48.56 (standard deviation (SD): 5.8) as compared to the STAI population mean score of 43.72 (SD: 8.53). No difference was found between groups on the BDI (p > 0.1). Finally, a significant, medium size effect was found between patient groups on the Joy in Living scale (F (2.39) = 3.51, p = 0.040, η2 = 0.15). CONCLUSIONS: Involving psychiatric and mental-health care, in addition to existing surgical treatment interventions, is essential for more successful recovery of patients with Marfan syndrome.

A combined proteomic and transcriptomic approach shows diverging molecular mechanisms in thoracic aortic aneurysm development in patients with tricuspid- and bicuspid aortic valve.

Thoracic aortic aneurysm is a pathological local dilatation of the aorta, potentially leading to aortic rupture or dissection. The disease is a common complication of patients with bicuspid aortic valve, a congenital disorder present in 1-2% of the population. Using two dimensional fluorescence difference gel electrophoresis proteomics followed by mRNA expression, and alternative splicing analysis of the identified proteins, differences in dilated and nondilated aorta tissues between 44 patients with bicuspid and tricuspid valves was examined. The pattern of protein expression was successfully validated with LC-MS/MS. A multivariate analysis of protein expression data revealed diverging protein expression fingerprints in patients with tricuspid compared with the patients with bicuspid aortic valves. From 302 protein spots included in the analysis, 69 and 38 spots were differentially expressed between dilated and nondilated aorta specifically in patients with tricuspid and bicuspid aortic valve, respectively. 92 protein spots were differentially expressed between dilated and nondilated aorta in both phenotypes. Similarly, mRNA expression together with alternative splicing analysis of the identified proteins also showed diverging fingerprints in the two patient groups. Differential splicing was abundant but the expression levels of differentially spliced mRNA transcripts were low compared with the wild type transcript and there was no correlation between splicing and the number of spots. Therefore, the different spots are likely to represent post-translational modifications. The identification of differentially expressed proteins suggests that dilatation in patients with a tricuspid aortic valve involves inflammatory processes whereas aortic aneurysm in patients with BAV may be the consequence of impaired repair capacity. The results imply that aortic aneurysm formation in patients with bicuspid and tricuspid aortic valves involve different biological pathways leading to the same phenotype.

Extensive congenital abdominal aortic aneurysm and renovascular disease in the neonate.

Primary congenital abdominal aortic aneurysm is an extremely rare entity, with only 15 patients reported in the literature. Options for repair are often limited secondary to branch vessel size and other anatomic limitations. We present a neonate diagnosed with an abdominal aortic aneurysm on prenatal ultrasound. A postpartum computed tomography angiogram revealed an extensive type IV thoracoabdominal aortic aneurysm extending to the aortic bifurcation and resulting in bilateral renal artery stenosis. The unique features of this patient and challenges in management are discussed.

Endovascular treatment of a congenital thoracic aortic aneurysm in a premature newborn.

Congenital aortic aneurysms are a rare, life-threatening disorder that present complex treatment challenges. The authors describe a congenital thoracic aortic aneurysm treated by endovascular means with stent-assisted coil deployment. Because of rapid in utero aneurysm growth and cardiac dysfunction, a 2.6-kg male was delivered expeditiously by Cesarean section at 35(2)/(7) weeks' gestation. On day of life 1, bilateral femoral arterial access was used to deliver a balloon-expandable stent across the wide-necked aneurysm. Microcoil embolization of the aneurysm via a prepositioned microcatheter was then performed. The child had an uncomplicated hospital course and is asymptomatic 5 months later, with complete aneurysm thrombosis.

Repair of tetralogy of Fallot with ascending and proximal aortic arch aneurysm: case report.

Abnormalities in the aorta of patients with tetralogy of Fallot (TOF) can lead to aortic dilatation and aortic regurgitation. We report a six-year-old male with TOF with dysplastic aortic valve, severe aortic regurgitation, and aortic aneurysm involving the aortic root, ascending aorta, and the proximal aortic arch, who underwent TOF repair with aortic replacement up to the proximal aortic arch with a composite graft without circulatory arrest.

Outcomes of Repair of Kommerell Diverticulum.

BACKGROUND: Kommerell diverticulum (KD) is an uncommon congenital vascular anomaly. This study assessed outcomes of open and endovascular repair of this disorder. METHODS: Between 1997 and 2016, 152 adult patients presented with KD at Cleveland Clinic (Cleveland, OH), 87 had no intervention, and 65 underwent open repair (n = 55; 19 elephant trunk [ET] procedures [9 with aortic dissection], including 7 frozen ET, and completions with 5 thoracic endovascular aortic repairs, 2 open, and 5 lost to follow-up) or endovascular procedures (n = 10). Non-ET open KD repairs consisted of resection (n = 15), interposition graft (n = 16), patch (n = 4), or aortopexy (n = 1). Maximum KD diameter was 2.1 cm for nonsurgical patients and 3.2 cm for surgical patients. Among surgical patients, 51 of 65 had dysphagia or dyspnea. A total of 608 patient-years of follow-up were available. RESULTS: For patients who underwent open and endovascular procedures, after multivariable adjustment, symptoms of dysphagia and hypertension predicted the likelihood of surgery (P < .05, all). There was no operative mortality. Complications included nondisabling stroke (n = 5; 8%), tracheostomy (n = 3; 4.6%), vocal cord paralysis (n = 2; 3%), and reoperation for bleeding (n = 3; 4.6%). During follow-up, 3 of 10 patients treated with hybrid or endovascular procedures required reinterventions for endoleaks. One patient had residual symptoms after aortopexy. Among nonsurgical patients, 2 patients refused surgery, and 1 died of aortic rupture, with a 4.7-cm descending aorta and a 3.4-cm KD. Seven additional patients died of nonaortic comorbidities. The remaining patients were asymptomatic, with an aortic diameter smaller than 4.5 cm. CONCLUSIONS: Open and endovascular approaches have a high success rate and low mortality risk. Selection of the specific type of intervention should be based on patient anatomy, additional needed procedures, and comorbid conditions.

Bicuspid aortic valve: Basics and beyond.

Bicuspid aortic valve, one of the most common congenital cardiac malformations, is associated with other valvular abnormalities and aortopathies. It increases the risk of thoracic aortic aneurysm and dissection, infective endocarditis, and sudden cardiac death. Patients require regular surveillance for progressive valvular disease and aortopathy. Although bicuspid aortic valve may occur sporadically, many cases are inherited, so first-degree relatives should be evaluated and genetic counseling considered.

Single coronary ostium in a patient with quadricuspid aortic valve combined with aneurysmal ascending aortic dilatation.

BACKGROUND: The presence of a fourth aortic valve cusp (quadricupsid aortic valve) is a rare congenital malformation and is often accompanied by other anomalies of the adjacent cardiovascular structures. Among these concomitant anomalies, simultaneous association of both a single coronary ostium and aneurysmal ascending aortic dilation in combination with the quadricupsid aortic valve has not been reported yet. CASE PRESENTATION: We experienced the case of a 56-year-old female patient presenting as aortic regurgitation resulted from malcoaptation of quadricupsid aortic valve. The patient had also accompanying aneurysmal ascending aortic dilatation and coronary ostial anomaly. Surgical correction (aortic valve replacement with mechanical devices and supracoronary aortic replacement with prosthetic graft) was performed without any complications. CONCLUSIONS: The technological development of preoperative imaging studies enable the physician to encounter the quadricuspid aortic valve with other associated malformations more often unlike previous reports. With review on the quadricuspid aortic valve, we discussed a surgical considerations for the treatment of this anomaly.

Congenital aneurysm of the descending aorta in a neonate.

A large aneurysm of the descending aorta of unknown etiology was diagnosed in utero. Medical treatment with propranolol was continued after surgery which was performed at the age of 2 months.

Aneurysm of the ascending aorta in a neonate.

Aneurysms of the thoracic aorta rarely occur in children. We present a female neonate who was referred to our hospital due to a heart murmur associated with cough and fever at 22 days of age. Both the echocardiography and aortography displayed an aneurysm of the ascending aorta at the aortic root. A patent ductus arteriosus (PDA) flow was detected on admission but it was not detectable when she was 3 months old. Neither physical characteristics of Marfan nor Turner syndrome were found, but she has had a huge cutaneous hemangioma over the right trunk since birth. The aneurysm did not progress during one year of follow-up. The etiology might be idiopathic or medial agenesis. Surgery will be warranted only if the aneurysm enlarges.

Combined Rastelli and Bentall Procedures for Pulmonary Atresia With Ventricular Septal Defect and a Large Aortopulmonary Collateral Artery and Ascending Aorta Aneurysm.

We report a challenging case of a 32-year-old patient in New York Heart Association (NYHA) class IV with pulmonary atresia, ventricular septal defect, a left aortopulmonary collateral artery, a right modified Blalock-Taussing shunt, and a gigantic aneurysm of the ascending aorta with severe aortic valve insufficiency. A combined Rastelli and Bentall procedure was performed by a joint adult and pediatric cardiovascular surgery team. One year after the operation, the patient is in NYHA class I, working full time.

Innominate artery cannulation and antegrade cerebral perfusion for aortic arch reconstruction in infants and children.

PURPOSE: Innominate artery cannulation has been widely adopted as a means to perform aortic arch reconstruction with continuous cerebral perfusion in the newborn. Although this technique has been subsequently utilized in infants and children, there is currently no data regarding the safety or efficacy in these older children. The purpose of this study was to review our experience with innominate artery cannulation for aortic arch reconstruction in patients beyond the neonatal period. METHODS: This was a retrospective review of 42 infants and children who underwent aortic arch reconstruction using the technique of innominate artery cannulation with continuous cerebral perfusion. Of these procedures, 29 (69%) were primary arch reconstructions, while 13 (31%) were aortic arch reoperations. The median age at surgery was 8 months, and 22 patients underwent concomitant intracardiac repairs. RESULTS: There was no operative mortality in this cohort of 42 patients undergoing aortic arch reconstruction. There was also no overt evidence of neurologic injury. Specifically, none of the patients demonstrated a neurologic deficit, clinical seizure, or unexpected delay in regaining a normal state of consciousness. The median duration of antegrade cerebral perfusion was 34 minutes. The median duration of hospital stay was 11 days. No patient required reoperation on the aortic arch with a median of 45-month follow-up. CONCLUSIONS: Innominate artery cannulation is a safe and effective technique for aortic arch reconstruction in nonneonates. We conclude that antegrade cerebral perfusion is a useful technique for aortic arch reconstruction in this patient population.

A right-sided aortic arch and aberrant left subclavian artery with proximal segment hypoplasia.

The right-sided thoracic aortic arch is a rare congenital malformation occurring during embryologic development. A majority of the cases present with two anatomic variations, one of which is an aberrant left subclavian artery (LSA) originating off the distal descending aortic arch. This aberrant LSA courses across and compresses thoracic structures on its way to the left thoracic outlet. While this aberrant vessel causes mostly benign symptoms, patients may first present with rupture of a thoracic aneurysm. This thoracic aneurysm is commonly known as Kommerell's diverticulum. This paper presents a case of an aberrant LSA originating off Kommerell's diverticulum with a proximal long-segment hypoplasia, a very rare anatomic variation.

Eyes wide shut--unusual two stage repair of pectus excavatum and annuloaortic ectasia in a 37 year old marfan patient: case report.

We report about a 37 year old male patient with a pectus excavatum. The patient was in NYHA functional class III. After performed computed tomography the symptoms were thought to be related to the severity of chest deformation. A Ravitch-procedure had been accomplished in a district hospital in 2009. The crack of a metal bar led to a reevaluation 2010, in which surprisingly the presence of an annuloaortic ectasia (root 73×74 mm) in direct neighborhood of the formerly implanted metal-bars was diagnosed. Echocardiography revealed a severe aortic valve regurgitation, the left ventricle was massively dilated presenting a reduced ejection fraction of 45%. A marfan syndrome was suspected and the patient underwent a valve sparing aortic root replacement (David procedure) in our institution with an uneventful postoperative course. A review of the literature in combination with discussion of our case suggests the application of stronger recommendations towards preoperative cardiovascular assessment in patients with pectus excavatum.

Actual management of patients with familial ascending aortic aneurysms and type-A aortic dissections.

BACKGROUND: There are few families with the diagnosis of ascending aortic aneurysm and acute type-A aortic dissection inherited as an autosomal-dominant disorder in the absence of a known genetic syndrome. METHODS: We investigated a family with 26 members in whom ascending aortic aneurysms and acute type-A aortic dissections occurred over three generations. Examinations were performed to identify family members at specific risk. RESULTS: Six members presented with acute type-A aortic dissections and three relatives had ascending aortic aneurysms. Clinical examinations showed no characteristics of a known genetic syndrome. Molecular genetic analysis revealed no mutations known to cause a form of autosomal-dominant inherited aortic disease. CONCLUSION: Adequate diagnostic measures are mandatory in families with ascending aortic aneurysms or type-A aortic dissections to identify or exclude family members at risk for aortic diseases. Even in the absence of identifiable mutations causing isolated aortic aneurysms or aortic dissections, we recommend standardised examinations of all first-degree relatives of affected families. An indication for prophylactic aortic root replacement should be considered for patients at risk.