Severe Aortic Root Dilatation Research Articles

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

Marfan syndrome (MFS), caused by pathogenic variants of FBN1 (fibrillin-1), is a systemic connective tissue disorder with variable phenotypes and treatment responsiveness depending on the variant. However, a significant number of individuals with MFS remain genetically unexplained. In this study, we report novel pathogenic intronic variants in FBN1 in two unrelated families with MFS. We evaluated subjects with suspected MFS from two unrelated families using Sanger sequencing or multiplex ligation-dependent probe amplification of FBN1 and/or panel-based next-generation sequencing. As no pathogenic variants were identified, whole-genome sequencing was performed. Identified variants were analyzed by reverse transcription-PCR and targeted sequencing of FBN1 mRNA harvested from peripheral blood or skin fibroblasts obtained from affected probands. We found causative deep intronic variants, c.6163+1484A>T and c.5788+36C>A, in FBN1. The splicing analysis revealed an insertion of in-frame or out-of-frame intronic sequences of the FBN1 transcript predicted to alter function of calcium-binding epidermal growth factor protein domain. Family members carrying c.6163+1484A>T had high systemic scores including prominent skeletal features and aortic dissection with lesser aortic dilatation. Family members carrying c.5788+36C>A had more severe aortic root dilatation without aortic dissection. Both families had ectopia lentis. Variable penetrance of the phenotype and negative genetic testing in MFS families should raise the possibility of deep intronic FBN1 variants and the need for additional molecular studies. This study expands the mutation spectrum of FBN1 and points out the importance of intronic sequence analysis and the need for integrative functional studies in MFS diagnosis.

Valve-sparing aortic root replacement: Long-term variables significantly associated with mortality and morbidity

ObjectivesIn aortic root surgery, valve-sparing aortic root replacement is an attractive alternative by mitigating the risks inherent to prosthetic valves; however, little is known about the variables that impact its durability. We review our mid- to long-term outcomes after valve-sparing aortic root replacement and describe factors that impact survival and valve reintervention and insufficiency. MethodsA retrospective review of 284 consecutive patients undergoing valve-sparing aortic root replacement between November 1999 and January 2022 at Austin Health, Melbourne, Australia, was undertaken, with a median follow-up of 6.43 ± 4.83 years, but up to 22.0 years. Freedom from mortality, aortic reintervention, and insufficiency was analyzed using Kaplan–Meier methods, Cox proportional hazard models, and Fine-Gray analysis. ResultsThe median age of patients at intervention was 60.0 years (interquartile range, 48.0-67.0), of whom 68 (23.9%) had bicuspid aortic valve disease, 27 (9.5%) had Marfan syndrome, 119 (41.9%) had severe aortic root dilation (>50 mm), and 155 had (54.6%) severe aortic insufficiency at the time of intervention. The 30-day mortality was 1.8%, with freedom from mortality of 96.0% (95% CI, 92.6-97.8) at 5 years and 88.2% (95% CI, 81.4-92.6) at 10 years. Freedom from aortic reintervention was 92.2% (95% CI, 87.7-95.2) at 5 years and 79.8% (95% CI, 71.8-85.8) at 10 years. Factors associated with reintervention were concomitant leaflet repair (hazard ratio, 8.13, 95% CI, 1.07-61.7) and bicuspid valvulopathy (hazard ratio, 2.23, 95% CI, 1.07-4.68), with reintervention in the bicuspid aortic valve being more likely due to aortic stenosis and in the tricuspid aortic valve due to aortic insufficiency (chi-square P = .05). The freedom from aortic insufficiency was 89.1% (95% CI, 83.5-92.9), 84.9% (95% CI, 77.8-89.9) at 5 and 10 years, respectively, and 80.7% (95% CI, 71.0-87.4). ConclusionsValve-sparing aortic root replacement has excellent long-term outcomes, with low mortality and reintervention rates. Concomitant leaflet repair and bicuspid valve disease are the only long-term factors associated with reintervention.

Aggressive Aortic Disease with Marfan-like Phenotype in Malaysian Patients with Loeys-Dietz Syndrome

Loeys- Dietz Syndrome (LDS, pronounced LOH-eez-DEETS) is a connective tissue disorder that was first described in 2005. In the past, many patients were misdiagnosed clinically as Marfan Syndrome (MFS) due to their overlapping phenotype. Distinguishing craniofacial features of LDS include hypertelorism, bifid uvula, cleft palate and absence of lens dislocation. Unlike MFS, aortic root dilatation with or without arterial tortuosity elsewhere are almost always present. Patient 1 was a 7-year- old boy, diagnosed with MFS at 4 years of age. Echocardiogram showed aortic root dilatation with no lens dislocation on eye assessment. He was initially started on β-blocker by the cardiologist, losartan was added on subsequently due to the increasing size of his aortic root diameter. Patient 2 was a 14-year-old boy, followed up for severe aortic root dilatation. He had a stormy neonatal period; diagnosed with tracheobronchomalacia, multiple joint dislocation, feeding intolerance, scoliosis and squint. He was followed up for many years as possible MFS. Genetic testing performed showed mutation at TGFBR2 gene, confirming a diagnosis of LDS in both patients. In addition to these families, another 6 families under our aortopathy clinic follow up have had their diagnosis of LDS confirmed molecularly. LDS is increasingly being described in patients with a more severe aortic disease and Marfan-like phenotype. The difference in disease severity highlights the importance of genetic testing in patients with suspected aortopathy, enabling timely implementation of therapeutic strategies.

Aortic Dissection in a Young Patient With Unsuspected Aortopathy.

Aortic dissection is often a fatal condition if not recognized and treated emergently. Fortunately, it is extremely rare in children and adolescents. We report a case of an adolescent boy who survived an aortic dissection due to severe aortic root dilation. A comprehensive history and physical examination, including family history, can facilitate an early diagnosis of connective tissue diseases, such as Loeys-Dietz syndrome (LDS).

Aortic Root Dilatation Measured by Cardiac Magnetic Resonance in Patients with Repaired Tetralogy of Fallot

Background: Aortic root dilatation (AoD) frequently occurs following repaired tetralogy of Fallot (rTOF). The objective of this study was to assess aortic dimensions, investigate the prevalence of AoD, and identify predictors of AoD in rTOF patients. Methods: A cross-sectional retrospective study was conducted in repaired TOF patients from 2009 to 2020. Aortic root diameters were measured by cardiac magnetic resonance (CMR). Severe AoD of the aortic sinus (AoS) was defined as a Z-score (z) of >4, reflecting a mean percentile ≥99.99%. Results: Two hundred forty-eight patients, with a median age of 28.2 years (10.2–65.3 years), were included in the study. The median age at the time of repair was 6.6 years (0.8–40.5 years) and the median interval between the repair and CMR study was 18.9 years (2.0–54.8 years). The prevalence of severe AoD was found to be 35.2% when defined by an AoS z greater than 4 and 27.6% when defined by a AoS diameter ≥40 mm, respectively. A total of 101 patients (40.7%) had aortic regurgitation (AR), with 7 patients (2.8%) having moderate AR. Multivariate analysis revealed that severe AoD was only associated with the left ventricular end diastolic volume index (LVEDVi) and a longer duration after repair. The age at the time of repair for TOF was found not to be correlated with the development of AoD. Conclusions: After repair of TOF, severe AoD was found to be prevalent, but no fatal complications were observed in our study. Mild AR was also commonly observed. Larger LVEDVi and a longer duration after repair were identified as factors associated with the development of severe AoD. Therefore, routine monitoring of AoD is recommended.

Abstract 11327: De Novo Heart Failure in a Young Adult: A Case of Severe Aortic Regurgitation Secondary to an Aortic Root Aneurysm in a Patient With Marfan's Syndrome

A 24-year-old male, with no past medical history, presented to the ER with a 15-day history of insidious abdominal pain and distention, associated with progressive dyspnea on exertion and bilateral lower extremity pitting edema. In the previous 48 hours before his hospital admission, patient began presenting orthopnea and paroxysmal nocturnal dyspnea.On presentation patient was normotensive and tachycardic, with low oxygen saturation on pulse oximetry. On auscultation a loud early diastolic decrescendo murmur was heard at the parasternal border, with and audible S3 gallop. Characteristic Marfanoid habitus was observed. Patient underwent TTE were there was a notable aortic root dilation, mainly at the level of the sinuses of Valsalva, which had a diameter of 85 mm and 62 mm at the sinotubular junction. Ascending and descending aorta had a normal diameter. An eccentric jet of severe aortic regurgitation was also noted, which collided with the anterior mitral valve leaflet causing an Austin Flint phenomenon. Left ventricular ejection fraction was estimated at 24%, severe dilation was noted on all chambers. There were no echocardiographic signs of aortic dissection. Patient underwent genetic testing and ophthalmic evaluation, confirming the diagnosis of Marfan’s syndrome. A contrast enhanced CT angiogram confirmed the presence of severe aortic root dilation without dissection. Patient underwent Bentall procedure and began treatment for HFrEF at discharge. Marfan Syndrome is an autosomal dominant connective tissue disorder, due to mutations mostly in the FBN1 gene. Most cardiovascular symptoms are related to dilation of the aortic root and subsequent aortic regurgitation due to aortic annulus dilation. In patients with Marfan’s syndrome, all aortic root aneurysms ≥5.0 mm should undergo surgical repair regardless of symptoms.

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes flattened malar region with convex nasal ridge. Alterations in the aspartate beta-hydroxylase (ASPH) gene are known to be the cause of the condition.We report seven further individuals from six unrelated families with characteristic ocular and facial features. Five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Interestingly, inguinal hernias were commonly reported. Although some skeletal features were seen, these were not consistent. One of the patients had mild deficiency of factor VII on clotting studies. The ASPH protein hydroxylates specific asparagine- and aspartate-residues in epidermal growth factor (EGF)-domain containing proteins including coagulation factors and associated genes including FBN1. We propose this as an explanation for the overlap in clinical features with Marfan syndrome and conclude that Traboulsi syndrome is an important differential diagnosis. We strongly recommend echocardiography surveillance for patients with Traboulsi syndrome.

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy.

Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients. Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. Results: Aortic root dilatation (z score >2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p < 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p < 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0–16.2 years), the mean aortic root diameter z score change was −0.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). Conclusions: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative chromosome 10 generated by a nonreciprocal (10;13) translocation inherited from his healthy mother who carried the translocation in a balanced and homogeneous state. FISH analyses showed interstitial telomeric sequences at the breakpoints. To our knowledge, this is the second report of a patient with trisomy 13 mosaicism displaying a severe aortic root dilatation. We also discuss the mechanisms which could explain the mosaic state, the most likely one being related to the instability of the interstitial telomere.

344 Giant Sinus of Valsalva Aneurysm Causing Tricuspid Inflow Obstruction With Associated Severe Aortic Root Dilatation and Functional Aortic Regurgitation

344 Giant Sinus of Valsalva Aneurysm Causing Tricuspid Inflow Obstruction With Associated Severe Aortic Root Dilatation and Functional Aortic Regurgitation

Patient Specific Diagnostics for cardiovascular diseases based on diagnostic imaging: an application to the aneurism of the ascending aorta

In the framework of a collaboration between clinicians and engineers (namely, the Department of Radiology of the Brotzu Hospital in Cagliari and the group of experimental hydraulics at DICAAR - University of Cagliari), methodologies for the application of the in vitro study of the cardiovascular fluid mechanics to the support of the physical interpretation of the diagnostic imaging data are being tested. To this aim, we set up a mock-loop able to reproduce the physiologic pulsatile flow and designed to host a replica of aortic root made of transparent silicon rubber. Then, we developed a procedure to obtain a transparent and compliant replica of a patient specific ascending aorta from diagnostic images. The patient specific aorta model can be inserted in the mock-loop to study the fluid dynamics by means of particle image velocimetry techniques. We compared the flow in three cases, corresponding to physiological conditions, mild and severe aortic root dilation, observing significant differences in the redirection of the transvalvular jet and vortex evolution in the aortic flow. The observed fluid dynamics differences may have relevant implications on the thromboembolism and vascular tissue damage potential.

P22-4 - Two Different Cause of Acute Heart Failure Due to Localized Aortic Dissection

Case 1: A 78-year-old man was admitted to our hospital with chest pain and dyspnea. Chest X ray showed congestive heart failure (CHF). Transthoracic echocardiography (TTE) and plain chest CT revealed severe aortic valve regurgitation (AR) and aortic root dilation without apparent flap. Despite treatment of heart failure CHF was worsened, in order to stabilize his respiratory status, mechanical ventilation was started. We diagnosed cause of his heart failure was acute AR, and then, performed surgical operation. Operation finding showed localized dissection of aortic root which was the cause of acute AR. Case 2: A 66-year-old man was admitted to our hospital with chest pain in a shock state. ECG showed ST elevation in II, III and aVf, and TEE showed severe dilation of right ventricular and severe asynergy of the left ventricular inferior wall. We diagnosed acute myocardial infarction (AMI) with right heart failure, coronary angiogram (CAG) was performed. However CAG did not showed occlusive coronary disease, enhance CT and TEE restudy revealed localized aortic dissection of the sinus of valsalva and dilation of ascending aorta. Operation was performed and the finding showed localized dissection of aortic root which was the cause of AMI and right heart failure. We report these rare cases, two different type of acute heart failure due to local dissection of aortic root.

Factors associated with severe aortic dilation in patients with Fontan palliation

ObjectiveTo describe the range of aortic dimensions and severity of aortic valve regurgitation (AR) in patients after the Fontan operation, examine rate of growth over time and identify risk factors...

Abstract 13643: Impact of Aortic Valve Repair and Valve-sparing Procedures on the Mitral Annular Geometry Assessed by 3-dimensional Transesophageal Echocardiography

Background: Annular non-planarity, the "saddle-shape" of the mitral valve (MV) annulus, plays a role in minimizing leaflet stress and preserving valve function. Aortic valve (AV) repair/sparing procedures are increasingly used to treat aortic regurgitation (AR). The impact of these procedures on MV geometry and function is unknown. Methods: 2D and 3D transesophageal echocardiography (TEE) of the MV was acquired pre-operatively and immediately after surgery in 30 patients with severe AR and/or aortic root dilatation (Group 1 (n=10): bicuspid AV undergoing AV repair and valve-sparing root replacement with AV reimplantation; Group 2 (n=10): tricuspid AV undergoing AV repair and AV reimplantation; Group 3 (n=10): isolated AV cusp repair) and in 10 controls (Group 4). MV morphology was assessed by dedicated quantification software (fig. 1). Results: Comorbidities were similar in all groups. Groups 1, 2 and 3 had increased LV end-diastolic volumes compared to group 4 (214±90, 193±56, 180±55 vs. 86± 28ml for groups 1, 2, 3 and 4, respectively; p&lt;0.001); LVEF was similar (59.5 ± 6.2%). The baseline dimensions of the ventriculo-aortic junction and sinuses of Valsalva were larger in groups 1 and 2 vs. groups 3 and 4 (p&lt;0.0001). AV and MV parameters are summarized (table). Pre-operative MV parameters did not differ from those of normal subjects. The annular height and annular height to commissural width ratio (AHCWR) significantly decreased after surgery in groups 1 and 2, as did the tenting area. Significant changes in the coaptation depth and mitro-aortic angle were only found in group 1. Conclusions: AV repair/sparing procedures alter the MV geometry, including the non-planarity of the annulus and the depth of coaptation of the leaflets, especially among patients with a bicuspid AV undergoing AV reimplantation. These alterations could have long-term implications on MV function.

IMPACT OF AORTIC VALVE REPAIR AND VALVE-SPARING PROCEDURES ON THE MITRAL ANNULAR GEOMETRY ASSESSED BY 3-DIMENSIONAL TRANSESOPHAGEAL ECHOCARDIOGRAPHY

Background: Annular non-planarity, the saddle-shape of the mitral valve (MV) annulus, plays a role in minimizing leaflet stress and preserving valve function. Aortic valve (AV) repair/sparing procedures are increasingly used to treat aortic regurgitation (AR). The impact of these procedures on MV geometry and function is unknown. Methods: 2D and 3D transesophageal echocardiography (TEE) of the MV was acquired pre-operatively and immediately after surgery in 30 patients with severe AR and/or aortic root dilatation (Group 1 (n=10): bicuspid AV undergoing AV repair and valve-sparing root replacement with AV reimplantation; Group 2 (n=10): tricuspid AV undergoing AV repair and AV reimplantation; Group 3 (n=10): isolated AV cusp repair) and in 10 controls (Group 4). MV morphology was assessed by dedicated quantification software (fig. 1). Results: Comorbidities were similar in all groups. Groups 1, 2 and 3 had increased LV end-diastolic volumes compared to group 4 (214±90, 193±56, 180±55 vs. 86± 28ml for groups 1, 2, 3 and 4, respectively; p<0.001); LVEF was similar (59.5 ± 6.2%). The baseline dimensions of the ventriculo-aortic junction and sinuses of Valsalva were larger in groups 1 and 2 vs. groups 3 and 4 (p<0.0001). AV and MV parameters are summarized (table). Pre-operative MV parameters did not differ from those of normal subjects. The annular height and annular height to commissural width ratio (AHCWR) significantly decreased after surgery in groups 1 and 2, as did the tenting area. Significant changes in the coaptation depth and mitro-aortic angle were only found in group 1. Conclusions: AV repair/sparing procedures alter the MV geometry, including the non-planarity of the annulus and the depth of coaptation of the leaflets, especially among patients with a bicuspid AV undergoing AV reimplantation. These alterations could have long-term implications on MV function.

Abstract 18947: What Can We Learn from Serial Echocardiographic Evaluation of the Aorta in Tetralogy of Fallot?

Introduction: Guidelines for management of aortic root (AoR) dilation with known aortopathies recommend surgical repair when the AoR exceeds 5 cm. Patients with tetralogy of Fallot (TOF) may have an associated aortopathy, though aortic dissection is rare. No guidelines exist regarding timing of surgical intervention. We hypothesized that the rate of AoR dilation in adults with repaired TOF would be low and that an AoR &gt; 5 cm would be associated with standard risk factors. Methods: We performed a retrospective study of all adult TOF patients who underwent a transthoracic echocardiogram (TTE) at our Center. Clinical variables and AoR dimension at the sinus of Valsalva were determined. AoR size was treated as an absolute value and as an observed-to-expected ratio based on standard nomograms. Results: 266 patients met inclusion criteria. On initial TTE, 91 (34%) patients had an AoR &gt; 4.0 cm, 9 (3%) patients had an AoR &gt; 5.0 cm, and 28 patients (11%) had an observed-to expected AoR &gt; 1.5. Male gender, hypertension, and TOF repair at &gt;5 years-old were associated with an AoR &gt; 5.0 cm while only TOF repair at &gt;5 years-old was associated with an observed-to-expected AoR &gt; 1.5. 4 patients had aortic valve (AV) surgery. One patient with an AoR of 5.8 cm had an aortic dissection following pulmonary valve replacement. 206 patients (77%) had serial TTEs. Mean age at first echo was 35.5 years. Mean time between studies was 5.5 years, and 106 patients had a &gt;5 year latency between TTEs. The mean rate of change for all patients was +0.4 mm/year. 72 patients (35%) had an increase in AoR size. 25 patients (12%) had an increase in AoR size ≥0.5cm. Only time &gt;5 years between TTEs was significantly associated with an increase in AoR ≥0.5 cm (p = 0.014). There was no significant association with either rate of AoR increase or AoR increase ≥0.5 cm and gender, hypertension, degree of AR, AV surgery, right-sided arch, AoR&gt; 5cm, time of repair, or prior pregnancy. Conclusions: In our cohort of adult patients, AoR dilatation &gt;5.0 cm was uncommon and associated with male gender, hypertension and late repair. The rate of AoR dilation was slow and without clear risk factor. In patients with severe AoR dilation, further study is required to identify significant risk factors for aortic events.

Laubry-Pezzi Syndrome With Aortic Root Dilatation Treated With a Bentall and De Bono Procedure

Laubry-Pezzi syndrome is a clinical entity in which prolapse of an aortic valve cusp into a subjacent ventricular septal defect (VSD) due to Venturi effect results in progressive aortic valve insufficiency. Aortic valve prolapse is found in over 5% of children with VSDs, most commonly in association with supracristal VSDs, and the risk of development of aortic regurgitation increases during childhood, peaking at 5 to 10 years of age. The VSD closure eliminates the low-pressure zone that is the cause of ongoing aortic valve cusp deformity and, if performed early, prevents the development of aortic regurgitation. However, the management of this rare pathology is still a matter of some debate with respect to indications, operative techniques, and timing. We report the case of a patient with Laubry-Pezzi syndrome, originally operated on at six years of age for VSD closure and plasty between the left and the right aortic cusps. However, in the follow-up the patient developed severe aortic regurgitation and aortic root dilatation. Eventually, a Bentall and De Bono procedure was performed.

Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4

Autosomal recessive cutis laxa (ARCL) is a clinically and genetically heterogeneous group of disorders characterized by loose, inelastic skin and variable systemic involvement and severity. Mutations in the FBLN4 gene are associated with ARCL1B. Fibulin-4 is important in elastic fiber formation and smooth muscle cell differentiation. We describe herein an 8-year-old boy who presented with severe aortic root dilatation and arterial tortuosity at 1 year of age which required surgical repair. His parents were consanguineous and there was a family history of three brothers who died early in life with an unknown type of connective tissue disorder in the 1960s. Both parents of the patient reported here were related to these three boys. We used a homozygosity mapping strategy with a 900K SNP array and identified FBLN4 as a candidate gene in an extended region of homozygosity. We sequenced this gene in the patient and identified a homozygous non-synonymous mutation at c.376G>A (p.Glu126Lys) in exon 5 that was predicted to be damaging. ARCL1B has most typically been associated with early demise but our report suggests that long-term survival is possible. With this longer term survival we are learning more about the natural history of this disorder, which includes baroreceptor reflex failure and low bone mineral density in this patient.

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects. Between 2007 and 2011, 21 clinical sites randomized 608 subjects, aged 6 months to 25 years who met the original Ghent criteria and had a body surface area-adjusted aortic root diameter z-score >3.0. The mean age at study entry was 11.2 years, 60% were male, and 25% were older teenagers and young adults. The median aortic root diameter z-score was 4.0. Aortic root diameter z-score did not vary with age. Mitral valve prolapse and mitral regurgitation were more common in females. Among those with a positive family history, 56% had a family member with aortic surgery, and 32% had a family member with a history of aortic dissection. Baseline demographic, clinical, and anthropometric characteristics of the randomized cohort are representative of patients in this population with moderate to severe aortic root dilation. The high percentage of young subjects with relatives who have had aortic dissection or surgery illustrates the need for more definitive therapy; we expect that the results of the study and the wealth of systematic data collected will make an important contribution to the management of individuals with Marfan syndrome.

Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection

Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation. We describe the anesthetic management of a patient with Marfan syndrome with severe aortic root dilation, who required major surgery like cholecystectomy with partial liver resection under general anesthesia. A 47-year-old female presented to pre-anesthetic clinic for cholecystectomy with partial hepatic resection for gall bladder carcinoma. Clinical features, transthoracic echocardiography and computed tomography of thorax supported a diagnosis of Marfan syndrome with severely dilated aortic root. Aortic dissection in patients with Marfan syndrome and severely dilated aortic root can be precipitated by major hemodynamic changes under anesthesia. Careful hemodynamic monitoring and avoidance of hemodynamic swings can prevent this life-threatening event.