Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

BACKGROUND: Mitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease gene in a cross-sectional analysis of 2014-2023 data in the Montalcino Aortic Consortium registry. METHODS AND RESULTS: MAD was determined by direct measurement of echocardiographic images. MR and MVP were defined according to current clinical guidelines. Associations were evaluated using χ2 or Fisher exact tests. MR and MVP were enriched in Montalcino Aortic Consortium participants (672) with pathogenic variants (PV) in transforming growth factor-ß pathway genes. The combination of MR and MVP was associated with mitral surgery and arrhythmias. In the subgroup with available images, MAD was enriched in SMAD3 PV compared with other transforming growth factor-ß PV (prevalence ratio 1.8 [1.1-2.8], P <0.02). Severe disjunction (>10 mm) was only observed in the transforming growth factor-ß subgroup and was further enriched in participants with SMAD3 PV (prevalence ratio 3.1 [1.1-8.6]). MVP (prevalence ratio 5.2 [3.0-9.0]) and MR (PR 2.7 [1.8-3.9]) were increased in participants with MAD, but MAD was not independently associated with adverse cardiac or aortic events. CONCLUSIONS: Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor-ß pathway genes, particularly SMAD3. MR and MVP but not MAD are associated with adverse aortic and cardiac events. Because congenital mitral disease may be the primary presenting feature of SMAD3 PV, genetic testing for heritable thoracic aortic disease should be considered for such individuals, especially if they also have a family history of heritable thoracic aortic disease.

Bicuspid Aortic Valve Disease With Early Onset Complications: Characteristics And Aortic Outcomes.

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults but can also cause childhood-onset complications. In multicenter study, we found that adults who experience significant complications of BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early onset BAV complications.

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Heterozygous missense variants in TGFBR1, encoding one subunit of the transforming growth factor-beta receptor, are a well-established cause of Loeys-Dietz syndrome (LDS)-an autosomal dominant disorder with variable phenotypic expression. Patients with LDS have compromised connective tissues that can result in life-threatening arterial aneurysms, craniosynostosis, characteristic craniofacial and skeletal anomalies, skin translucency, and abnormal wound healing. We report a full sibship with a biallelic type of TGFBR1-related disease. Each born at 38 weeks had aortic root dilation, congenital diaphragmatic hernia (CDH), skin translucency, and profound joint laxity at birth. Both had progressive dilation of the aorta and recurrence of a diaphragmatic defect after plication early in infancy. Patient 1 died at 66 days of age and Patient 2 is alive at 4 years and 4 months of age with multiple morbidities including cystic lung disease complicated by recurrent pneumothoraces and ventilator dependence, craniosynostosis, cervical spine instability, progressive dilation of the aorta, worsening pectus excavatum, large lateral abdominal wall hernia, and diffuse aortic ectasia. Fibroblasts cultured from Patient 2 showed decreased TGF-ß responsiveness when compared to control fibroblasts, consistent with previous observations in cells from individuals with autosomal dominant LDS. Whole genome copy number evaluation and sequencing for both patients including their parents as reference revealed compound heterozygous variants of uncertain clinical significance in exon 2 of TGFBR1 (c.239G>A; p.Arg80Gln paternal and c.313C>G; p.His105Asp maternal) in both siblings in trans. Each parent with their respective variant has no apparent medical issues and specifically no LDS characteristics. Neither of these variants have been previously reported. Thousands of patients have been diagnosed with LDS-an established autosomal dominant disease. These siblings represent the first reports of biallelic TGFBR1-related LDS and expand the differential diagnosis of CDH.

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.

BACKGROUND: Pathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available to stratify the risk for aortic events associated with these genes. OBJECTIVES: This study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic dissection, among 7 HTAD genes and variant types within each gene. METHODS: A retrospective cohort of probands and relatives with rare variants in 7 genes for HTAD (n = 1,028) was assessed for the risk of first aortic events based on the gene altered, pathogenic variant type, sex, proband status, and location of recruitment. RESULTS: Significant differences in aortic event risk were identified among the smooth muscle contraction genes (ACTA2, MYLK, and PRKG1; P = 0.002) and among the genes for Loeys-Dietz syndrome, which encode proteins in the transforming growth factor (TGF)-ß pathway (SMAD3, TGFB2, TGFBR1, and TGFBR2;P < 0.0001). Cumulative incidence of type A aortic dissection was higher than elective aneurysm surgery in patients with variants in ACTA2, MYLK, PRKG1, and SMAD3; in contrast, patients with TGFBR2 variants had lower cumulative incidence of type A aortic dissection than elective aneurysm surgery. Cumulative incidence of type B aortic dissection was higher for ACTA2, PRKG1, and TGFBR2 than other genes. After adjusting for proband status, sex, and recruitment location, specific variants in ACTA2 and TGFBR2 were associated with substantially higher risk of aortic event with childhood onset. CONCLUSIONS: Gene- and variant-specific data on aortic events in individuals with HTAD support personalized aortic surveillance and clinical management.

Vascular dissection in women with Turner syndrome.

BACKGROUND: The frequency of ascending aortic dissection in patients with Turner syndrome in the United States remains largely unknown with data surmised from published case reports or case series. Dissection of other vascular structures has only rarely been reported in this patient cohort. Recent European data identified aortic dissection to be a relatively rare event in a group of adult women with Turner syndrome. We sought to evaluate the prevalence of, and risk factors for, vascular dissection in women with Turner syndrome followed in the United States. METHOD: Retrospective review of all adult patients (age > 18 years) with Turner syndrome seen by any medical care provider within 2 medical systems covering a 5 state referral base was performed. Demographic, clinical, surgical and imaging variables of interest were recorded. RESULTS: Vascular dissection occurred in 16 (4.1%) of the 393 adult women and prophylactic aortic replacement occurred in 14 (3.5%). Only 35% of patients were under the care of a cardiologist with the remainder followed exclusively by other care providers. Vascular dissections occurred in the ascending & descending aorta as well as pulmonary artery and cerebral vessels. In addition to bicuspid aortic valve, and prior cardiac surgery, risk factors for vascular dissection included rural residence and lack of ongoing care by a cardiologist. CONCLUSION: Transition to adult cardiology subspecialty care is lacking in patients with Turner syndrome. Aortic dissection is not uncommon. Ongoing interaction with a cardiologist is essential to optimize cardiac outcomes in those with cardiac risk factors and may best be accomplished with centralized multidisciplinary clinics.

Low-Molecular-Weight Heparin vs Warfarin for Thromboprophylaxis in Children With Coronary Artery Aneurysms After Kawasaki Disease: A Pragmatic Registry Trial.

BACKGROUND: The substantial risk of thrombosis in large coronary artery aneurysms (CAAs) (maximum z-score ≥ 10) after Kawasaki disease (KD) mandates effective thromboprophylaxis. We sought to determine the effectiveness of anticoagulation (low-molecular-weight heparin [LMWH] or warfarin) for thromboprophylaxis in large CAAs. METHODS: Data from 383 patients enrolled in the International KD Registry (IKDR) were used. Time-to-event analysis was used to account for differences in treatment duration and follow-up. RESULTS: From diagnosis onward (96% received acetylsalicylic acid concomitantly), 114 patients received LMWH (median duration 6.2 months, interquartile range [IQR] 2.5-12.7), 80 warfarin (median duration 2.2 years, IQR 0.9-7.1), and 189 no anticoagulation. Cumulative incidence of coronary artery thrombosis with LMWH was 5.7 ± 3.0%, with warfarin 6.7 ± 3.7%, and with no anticoagulation 20.6 ± 3.0% (P < 0.001) at 2.5 years after the start of thromboprophylaxis (LMWH vs warfarin HR 1.5, 95% confidence interval [CI] 0.4-5.1; P = 0.56). A total of 51/63 patients with coronary artery thrombosis received secondary thromboprophylaxis (ie, thromboprophylaxis after a previous thrombus): 27 LMWH, 24 warfarin. There were no differences in incidence of further coronary artery thrombosis between strategies (HR 2.9, 95% CI 0.6-13.5; P = 0.19). Severe bleeding complications were generally rare (1.6 events per 100 patient-years) and were noted equally for patients on LMWH and warfarin (HR 2.3, 95% CI 0.6-8.9; P = 0.25). CONCLUSIONS: LMWH and warfarin appear to have equivalent effectiveness for preventing thrombosis in large CAAs after KD, although event rates for secondary thromboprophylaxis and safety outcomes were low. Based on our findings, all patients with CAA z-score ≥ 10 should receive anticoagulation, but the choice of agent might be informed by secondary risk factors and patient preferences.

Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle.

Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe double-outlet right ventricle with mitral atresia and aortic arch hypoplasia in an infant with WS. This case demonstrates the difficulty in managing patients with WS with complex cardiac defects. To our knowledge, this is the first reported single-ventricle physiology in a patient with WS. (Level of Difficulty: Advanced.).

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.

PIGQ (OMIM *605754) encodes phosphatidylinositol glycan biosynthesis class Q (PIGQ) and is required for proper functioning of an N-acetylglucosamine transferase complex in a similar manner to the more established PIGA, PIGC, and PIGH. There are two previous patients reported with homozygous and apparently deleterious PIGQ mutations. Here, we provide the first detailed clinical report of a patient with heterozygous deleterious mutations associated with glycosylphosphatidylinositol-anchored protein (GPI-AP) biosynthesis deficiency. Our patient died at 10 months of age. The rare skeletal findings in this disorder expand the differential diagnosis of long bone radiolucent lesions and sphenoid wing dysplasia. This clinical report describes a new and rare disorder-PIGQ GPI-AP biosynthesis deficiency syndrome.

Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.

Aortic aneurysms requiring surgery in early childhood are rare. Herein we describe the case of a three-year-old with massive aneurysmal aortic dilation secondary to the rare and often lethal genetic disorder, cutis laxa. Initial thoracic aortic aneurysm gene panel was negative. Parents of the child were not known to be consanguineous, but high-density SNP array revealed several regions of homozygosity. This prompted targeted sequence analysis that identified a novel homozygous missense mutation in the gene for cutis laxa, EFEMP2. The patient underwent aortic valve-sparing aortic root and ascending aorta replacement and total aortic arch replacement, with continuous, moderately hypothermic cardiopulmonary bypass, using a dual cannulation technique. He was discharged well on the third postoperative day and remains free of aneurysmal disease at two-year follow-up.

Cardiovascular and general health status of adults with Trisomy 21.

BACKGROUND: Patients with Trisomy 21 are now living well into adulthood. Little data exists to assist the cardiologist in the care of these patients. We sought to examine the cardiac and general health status of adults with Trisomy 21 undergoing cardiac evaluation. METHODS & RESULTS: A retrospective review of all affected adults >21years followed at 2 tertiary care institutions was performed. Of 193 patients identified, median age was 31 (range 21.1-60.5) years. Cardiac surgery was performed in childhood in 127 with 30 patients who did not undergo surgery developing Eisenmenger syndrome. The remaining 36 patients did not warrant early surgical intervention. Six patients were lost to follow-up. Significant cardiac residua were present in 117 (62%). Arrhythmias were present in 53 (28%) with 15 having atrial fibrillation (8%). Non-cardiac comorbidities were common and included sleep apnea, pulmonary hypertension, thyroid dysfunction, thromboses and recurrent infections. Hospitalization in adulthood occurred in 58 patients (51%); pneumonia and cardiac related surgeries being the most common reasons for hospitalization. Average age of death (n=23) was 39.8±8.5years. Transition of care to an adult provider was uncommon occurring in 54 (27%) patients. On multivariate analysis, presence of younger age and absence of pulmonary hypertension were the sole predictors of survival for the group as a whole, as well as those patients without Eisenmenger syndrome. CONCLUSIONS: Adults with Trisomy 21 have frequent cardiac and non-cardiac co-morbidities. Cardiologists caring for these patients should be familiar with the adult acquired medical problems these patients encounter.

Impact of liver disease after the fontan operation.

Liver disease is being reported with increased frequency in survivors of the Fontan operation. The clinical impact of structural hepatic abnormalities in these patients remains largely unknown. We sought to assess if, and how, cardiologists are screening for hepatic disease in these patients to evaluate for clinical or laboratory correlates of structural hepatic disease and determine the prevalence and clinical impact of such disease. Retrospective data analysis from tertiary institutions was performed. Hepatic imaging studies and serology performed over the last decade were reviewed and clinical and laboratory correlates of structural hepatic alterations on liver imaging or biopsy were sought. Outcomes were determined. In this cohort study, 53 of 60 adult survivors (88%) underwent hepatic imaging with computed tomography, magnetic resonance imaging, or ultrasound with a median number of 2 (0 to 10) studies over the past decade. The frequency of hepatic imaging varied widely with 70% of patients undergoing serial studies. Cirrhosis with or without abnormal hepatic nodules was seen in 29 of 53 patients (55%) at 18.4 ± 5.6 years after the Fontan procedure. Adverse hepatic-related outcome occurred in 22% of the entire patient cohort and was unrelated to time from Fontan operation. In conclusion, there exists significant variability in the type and timing of testing for hepatic complications after the Fontan procedure. Structural hepatic alterations are common and can be associated with significant morbidity and mortality. Routine imaging, and serologic evaluation, is recommended in all Fontan survivors.

Lifetime cardiac reinterventions following the Fontan procedure.

Patients with single ventricle physiology face significant morbidity and mortality following the Fontan procedure resulting in the need for additional cardiac reinterventions. Online patient education resources provide limited information on the reinterventions performed in single ventricle patients following the Fontan procedure. We sought to determine cardiac surgical and percutaneous reintervention rates and factors affecting reinterventions following the Fontan procedure. Databases from a single tertiary care center were retrospectively reviewed for all patients who underwent a Fontan procedure between 1978 and 2002. The number and type of cardiac surgical and percutaneous interventions following the Fontan procedure were determined, and relationships between need for reintervention and clinical variables were sought. A total of 91 patients (55 males) underwent the Fontan procedure at a median age of 5.50 years (IQR: 3.33-9.50 years). Median age at last follow-up, death, or transplant was 21.89 years (IQR: 10.87-25.51 years). Following the Fontan procedure, 60 (66%) patients required an additional 144 median sternotomies and 61 (67%) required 139 percutaneous cardiac interventions. Pacemaker system placement/replacement was the most common intervention following the Fontan procedure. The median time to first cardiac surgery following the Fontan was 1.96 years (IQR: 0.06-8.42 years) while the median time to the first percutaneous intervention was 7.63 years (IQR: 0.65-15.89 years). Families of single ventricle patients should be counseled on the likelihood of requiring additional cardiac interventions following the Fontan procedure.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

BACKGROUND: Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, the current standard therapy in most centers. METHODS: We conducted a randomized trial comparing losartan with atenolol in children and young adults with Marfan's syndrome. The primary outcome was the rate of aortic-root enlargement, expressed as the change in the maximum aortic-root-diameter z score indexed to body-surface area (hereafter, aortic-root z score) over a 3-year period. Secondary outcomes included the rate of change in the absolute diameter of the aortic root; the rate of change in aortic regurgitation; the time to aortic dissection, aortic-root surgery, or death; somatic growth; and the incidence of adverse events. RESULTS: From January 2007 through February 2011, a total of 21 clinical centers enrolled 608 participants, 6 months to 25 years of age (mean [±SD] age, 11.5±6.5 years in the atenolol group and 11.0±6.2 years in the losartan group), who had an aortic-root z score greater than 3.0. The baseline-adjusted rate of change in the mean (±SE) aortic-root z score did not differ significantly between the atenolol group and the losartan group (-0.139±0.013 and -0.107±0.013 standard-deviation units per year, respectively; P=0.08). Both slopes were significantly less than zero, indicating a decrease in the aortic-root diameter relative to body-surface area with either treatment. The 3-year rates of aortic-root surgery, aortic dissection, death, and a composite of these events did not differ significantly between the two treatment groups. CONCLUSIONS: Among children and young adults with Marfan's syndrome who were randomly assigned to losartan or atenolol, we found no significant difference in the rate of aortic-root dilatation between the two treatment groups over a 3-year period. (Funded by the National Heart, Lung, and Blood Institute and others; ClinicalTrials.gov number, NCT00429364.).

Impact of pregnancy on the cardiac health of women with prior surgeries for pulmonary valve anomalies.

OBJECTIVE: We assessed the impact of pregnancy on long-term cardiac outcomes in women with prior surgery for congenital pulmonary valve anomalies. STUDY DESIGN: Data on all reproductive age women with prior pulmonary valve repair or replacement, cared for at a tertiary institution over a 10-year period, were analyzed. Kaplan-Meier curves and proportional hazards models were estimated to assess the impact of pregnancy and multiparity on a composite long-term adverse outcome defined as death, heart failure, or unanticipated cardiac surgery. Peripartum cardiac complications were also assessed. RESULTS: Thirty-three parous and 20 nulliparous, nonpregnant controls with primary pulmonary valve replacement or repair were identified. Among the parous women, there were 95 pregnancies (median, 3.0; 1-10) resulting in 81 live births. Peripartum cardiac complications occurred in 28 (29.8%; 95% confidence interval, 20.4-39.2) of the pregnancies. A composite adverse long-term cardiac outcome occurred in 17 of 33 parous women, over 417 person-years (4 per 100 person-years) and 1 of 20 nulliparous women over 258 person-years (0.4 per 100 person-years); women with pregnancies were more likely at any point in time to have a composite long-term adverse cardiac outcome compared with nulliparous controls. Women with 2 or more pregnancies were more likely to have a composite adverse cardiac outcome than those with less than 2 pregnancies (hazard ratio, 8.8; 95% confidence interval, 1.5-50.3). CONCLUSION: Peripartum cardiac complications are common in women with prior pulmonary valve repair or replacement. Pregnancy appears to increase the risk of long-term adverse cardiac outcomes in these patients when compared with nulliparous controls.

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

BACKGROUND: 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. METHODS AND RESULTS: 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. CONCLUSIONS: 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.

The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome.

OBJECTIVES: The study sought to assess the impact of pregnancy on the rate of aortic growth as well as on short- and long-term clinical outcomes in women with Marfan syndrome. BACKGROUND: There is a paucity of data on peripartum and long-term clinical outcomes in women with Marfan syndrome who are followed prospectively during pregnancy. METHODS: Echocardiographic, demographic, and surgical data review of all adult females with a confirmed diagnosis of Marfan syndrome was performed. RESULTS: Of the 98 women identified, 69 (72%) experienced a total of 199 pregnancies resulting in 170 (86%) live births. The median number of pregnancies per women was 3 (interquartile range: 1 to 12). Obstetrical complications occurred in 17 (10%) and adverse fetal outcomes in 22 (13%). No woman experienced aortic dissection or required cardiac surgery during pregnancy. Aortic growth rate increased during pregnancy and did not return to baseline following pregnancy completion. Despite the lack of catastrophic peripartum complications, the prevalence of both aortic dissection and elective aortic surgery during long-term follow-up was higher in those women who had a prior pregnancy. Risk factors for adverse cardiac outcome included greater aortic diameter, greater rate of aortic growth during pregnancy, increased number of pregnancies, lack of beta-blocker use during pregnancy, and lack of prospective pregnancy follow-up. CONCLUSIONS: There is a low incidence of aortic complications during pregnancy in women with Marfan syndrome and an aortic diameter <4.5 cm. However, pregnancy does increase the risk of aortic complications in the long-term in this group of patients.

Moving on up: is it safe for patients to relocate to higher altitude following the fontan procedure?

The change in clinical status of patients status post-Fontan surgery who relocated from low (<1,500 feet) to moderate (>4,000 feet) altitude was assessed. Cardiology databases were queried for patients meeting inclusion criteria. The clinical records of these patients for the 6 months before and 6 months after relocation were then reviewed. Between 1990 and 2010, 16 patients relocated to moderate altitude. All patients developed a new cardiac-related adverse event within 6 months of relocation. A decrease in New York Heart Association functional classification occurred in 15 (94 %) patients, and 11 (69 %) of these required hospitalization. Clinical deterioration at higher altitude is common in patients who have undergone Fontan surgery. Physicians at lower altitudes should caution these patients about the potential risks of relocation to moderate altitude.

The role of iron deficiency in protein-losing enteropathy following the Fontan procedure.

We describe the case of an adult who developed protein-losing enteropathy 21 years after having undergone a Fontan procedure. Investigations revealed iron deficiency anemia which was treated with intravenous iron sucrose leading to resolution of both the anemia as well as symptoms of protein-losing enteropathy.

Would access to device therapies improve transplant outcomes for adults with congenital heart disease? Analysis of the United Network for Organ Sharing (UNOS).

BACKGROUND: Patients with congenital heart disease (CHD) now survive into adulthood and often present with end-stage heart failure (HF). HF management and approach to orthotopic heart transplant (OHT) may differ from adults without CHD. We sought to compare OHT waitlist characteristics and outcomes for these 2 groups. METHODS: The Organ Procurement and Transplantation Network (OPTN)/United Network for Organ Sharing (UNOS) database was used to identify adults (≥18 years) listed for OHT from 2005 to 2009. The cohort was divided into those with or without CHD. RESULTS: Of 9,722 adults included, 314 (3%) had CHD. Adults with CHD were younger (35 ± 13 vs 52 ± 12 years, p < 0.01) and more often had undergone prior cardiac surgery (85% vs. 34%, p < 0.01). Patients with CHD were less likely to have a defibrillator (44% vs 75%, p < 0.01) or ventricular assist device (5% vs 14%, p < 0.01) and were more likely to be listed at the lowest urgency status than patients without CHD (64% vs 44%, p < 0.01). Fewer CHD patients achieved OHT (53% vs 65%, p < 0.001). Although overall waitlist mortality did not differ between groups (10% vs 8%, p = 0.15), patients with CHD were more likely to experience cardiovascular death (60% vs 40%, p = 0.03), including sudden in 44% and due to HF in 16%. CONCLUSIONS: Despite lower urgency status, patients with CHD have greater cardiovascular mortality awaiting OHT than those without. Increased defibrillator use could improve survival to OHT, because sudden death is common. VAD support may benefit select patients, but experience in CHD is limited. Referral to specialized adult congenital heart centers can enhance utilization of device therapies and potentially improve waitlist outcomes.

The prevalence and clinical impact of obesity in adults with Marfan syndrome.

BACKGROUND: Patients with Marfan syndrome characteristically have an asthenic body habitus and are considered to be exempt from the obesity epidemic. OBJECTIVE: To examine the prevalence and clinical impact of obesity in a cohort of adults with Marfan syndrome. METHODS: Fifty outpatients (30 female) with a mean (+/- SD) age of 38+/-13 years were studied. Demographic variables including previously identified risk factors for aortic dissection were recorded. Body mass index (BMI) was determined and patients were classified as normal (BMI less than 25 kgm2), overweight (BMI 25 kgm2 to 29.9 kgm2) or obese (BMI 30 kgm2 or greater). Other cardiovascular risk factors were examined. An adverse clinical outcome was defined as either the attainment of surgical criteria for aortic root replacement or the presence of aortic dissection. RESULTS: A family history of aortic dissection was present in 13 (26%) patients. In 23 (46%) patients, there was no known family history of Marfan syndrome. Mean BMI was 25.4+/-7.4 kgm2, with 18 (36%) patients having an elevated BMI. Positive smoking status was present in 15 (30%), hypertension in 13 (26%) and hyperlipidemia in 19 (38%) patients. Adverse clinical outcome was present in 27 (54%) patients. Logistic regression analysis revealed only index case (OR 44; P<0.001) and higher BMI (OR 1.2; P=0.04) to be significantly and independently associated with increased risk of adverse clinical outcome. CONCLUSIONS: Obesity is common in adults with Marfan syndrome and is associated with an increased risk of aortic complications.