Transcatheter mitral valve implantation: Implications of interventional technique and 3D echocardiography for complex valve-in-valve paravalvular leak.

Transcatheter mitral valve replacement (TMVR) has emerged as a feasible alternative to surgical reoperation in failed bioprostheses and rings. Residual mitral regurgitation following TMVR can present as a valve-in-valve paravalvular leak (PVL) and is associated with increased morbidity and mortality. Current therapies for valve-in-valve PVL are limited. We present a case of a symptomatic patient with severe valve-in-valve PVL after TMVR for a previous surgical bioprosthesis leak, who then underwent a second TMVR as a valve-in-valve-in-valve implantation with a 29 mm Edwards® SAPIEN 3 valve via transseptal approach using three-dimensional (3D) echocardiography. This unique case highlights the complexity of this clinical entity and recognizes 3D transesophageal echocardiography as a valuable tool to guide valve-in-valve PVL closures.

Cardiovascular genetics: the role of genetic testing in diagnosis and management of patients with hypertrophic cardiomyopathy.

Genetic testing in hypertrophic cardiomyopathy (HCM) is a valuable tool to manage patients and their families. Genetic testing can help inform diagnosis and differentiate HCM from other disorders that also result in increased left ventricular wall thickness, thereby directly impacting treatment. Moreover, genetic testing can definitively identify at-risk relatives and focus family management. Pathogenic variants in sarcomere and sarcomere-related genes have been implicated in causing HCM, and targeted gene panel testing is recommended for patients once a clinical diagnosis has been established. If a pathogenic or likely pathogenic variant is identified in a patient with HCM, predictive genetic testing is recommended for their at-risk relatives to determine who is at risk and to guide longitudinal screening and risk stratification. However, there are important challenges and considerations to implementing genetic testing in clinical practice. Genetic testing results can have psychological and other implications for patients and their families, emphasising the importance of genetic counselling before and after genetic testing. Determining the clinical relevance of genetic testing results is also complex and requires expertise in understanding of human genetic variation and clinical manifestations of the disease. In this review, we discuss the genetics of HCM and how to integrate genetic testing in clinical practice.

A proposed strategy for management of immunosuppression in heart transplant patients with COVID-19.

There is limited experience in management of orthotopic heart transplant (OHT) patients with COVID-19. In this study, we present our initial experience using a standardized management algorithm. Data collection was performed on OHT patients with COVID-19 after March 10, 2020 (declaration of state of emergency in Massachusetts). Among the 358 OHT patients currently followed at our program, 5 patients (1.4%) tested positive for COVID-19 (median age 50 years [IQR, 49-58], duration post-OHT 21 years [IQR, 6-25], and 4 of 5 [80%] were men). Among the 5 OHT patients, 2 of 5 (20%) had mild disease and had no change in baseline immunosuppression therapy. Two of 5 (20%) had moderate disease and received remdesivir as part of a clinical trial and reduced immunosuppression therapy. One patient (20%) died prior to presenting to the hospital, consistent with 20% case fatality rate. Four patients (80%) are doing well 4 weeks post-discharge. In this small cohort of OHT patients with COVID-19, we report a 1.4% COVID-19 infection rate and 20% case fatality rate. All OHT patients managed under our clinical management algorithm had good short-term outcomes. Further study to estimate the true risk profile of OHT patients and validate the proposed management strategy is warranted.

A case of nonvalvular endocarditis with biventricular apical infected thrombi.

We report what appears to be the first case of biopsy-proven nonvalvular endocarditis with biventricular apical infected thrombi. A 47-year-old man presented with hypoxic respiratory failure from a multilobar pneumonia due to methicillin-resistant Staphylococcus aureus (MRSA). Transthoracic echocardiography and cardiac magnetic resonance imaging revealed biventricular apical masses suggestive of nonvalvular endocarditis with infected thrombi. Given concern for ongoing septic embolization to the lungs and brain despite appropriate antimicrobial therapy, the masses were surgically resected. Culture and histopathology confirmed MRSA-positive infected thrombi. In this case report, we highlight the differential diagnosis of apical masses and the role of multimodality imaging.

Cardiac AA amyloidosis in a patient with obstructive hypertrophic cardiomyopathy.

Cardiac amyloid A (AA) amyloidosis is rare. We present the case of a 72-year-old woman with obstructive hypertrophic cardiomyopathy (HCM) and biopsy-proven renal AA amyloidosis whose dyspnea and exercise intolerance had worsened over the previous year. Her AA amyloidosis was suspected to be secondary to chronic diverticulitis for which she had undergone hemicolectomy and sigmoidectomy 3 years prior. Echocardiographic findings were consistent with worsening left ventricular outflow tract obstruction at rest. Cardiac magnetic resonance imaging revealed patchy areas of midwall late gadolinium enhancement. Right ventricular endomyocardial biopsy did not reveal amyloid deposition, and cardiac technetium-99m pyrophosphate scintigraphy did not suggest transthyretin amyloidosis. The patient underwent septal myectomy with resection of an accessory papillary muscle. Pathological examination of the myectomy specimen was consistent with HCM. In addition, there was a thick layer of diffuse endocardial and vascular amyloid deposition that was identified as AA type by laser-microdissection with liquid chromatography-coupled tandem-mass spectrometry. This case report highlights the presence of 2 distinct disease processes occurring simultaneously and the importance of tissue diagnosis of AA amyloidosis, a condition that is not commonly associated with HCM.

Distinctive Hypertrophic Cardiomyopathy Anatomy and Obstructive Physiology in Patients Admitted With Takotsubo Syndrome.

Clinical spectrum of hypertrophic cardiomyopathy (HC) has been expanded to include patients with mild or no thickening of the left ventricle (LV), who nevertheless have outflow tract obstruction at rest or after exercise, due to systolic anterior motion (SAM) and ventricular septal contact, with mitral valve elongation and papillary muscles anomalies. Apical ballooning mimicking a takotsubo syndrome (TS) wall motion pattern can occur in HC with mild septal thickening when latent obstruction becomes unrelenting. To define the prevalence of anatomic abnormalities characteristic of HC in patients diagnosed with TS, we analyzed echocardiograms of 44 unselected TS patients, age 67±12 years, 95% women including studies performed before the event (n = 11, median 515 days) and after recovery of left ventricular function (n = 33, median 92 days, interquartile range = 29 to 327) and compared the findings to 60 age and sexed matched controls. Analysis of echocardiograms was blinded to event timing, and patient vs. control status. During the ballooning event, 13 patients (30%) had SAM including 9 with LV outflow obstruction, peak gradients 71±40 mmHg, as well as: ventricular septal thickening (16 ± 4 mm), elongated anterior leaflets (30 ± 3mm), and increased mitral coaptation to posterior wall distance (17 ± 5 mm), consistent with diagnosis of the HC phenotype. Compared to 31 TS patients without SAM, study patients with SAM had longer anterior leaflets (30 ± 3 vs 26 ± 4 mm, p = 0.006), thicker septum (16 ± 4 vs 12 ± 3 mm), increased coaptation to posterior wall distance (17 ± 5 vs 14 ± 4 mm, p < 0.04) and reduced distance from coaptation to septum (19 ± 5 vs 27 ± 5, p < 0.001). In the 13 patients with SAM, morphologic characteristics of HC persisted after normalization of LV function. In conclusion, a subset of patients experiencing TS events demonstrates a constellation of morphologic abnormalities characteristic of HC that persist after recovery of LV wall motion. These findings suggest that dynamic outflow obstruction may cause apical ballooning in susceptible patients.

Clinical utility of surveillance and clinically prompted right heart catheterization in patients listed for heart transplantation.

BACKGROUND AND OBJECTIVES: The 2016 ISHLT guidelines recommend that patients listed for orthotopic heart transplantation (OHT) undergo periodic surveillance right heart catheterization (RHC) to re-assess hemodynamics (Class I, level of evidence C). However, the impact of RHC on management remains unclear. The aim of this study was to determine the utility of both surveillance and clinically prompted RHCs in patients listed for OHT. METHODS: A retrospective study was conducted in adult patients listed for OHT at our hospital from 2006 through 2014. Each patient included had at least one RHC after being listed for OHT. The primary outcome was management change: hospitalization, surgery (OHT or mechanical circulatory support [MCS]), change in United Network for Organ Sharing (UNOS) status, or initiation/modification of vasoactive drugs, diuretics or neurohormonal blockade. RESULTS: Of the 194 patients included, 85 (43%) patients had more than one RHC. The median time between listing and transplantation was 115 days. Of the 376 RHCs performed, 187 (50%) were prompted by a clinical change; 189 (50%) were performed for surveillance. In 90.4% of clinically prompted RHCs and 42.9% of surveillance RHCs, a clinically important management change was implemented. Initiation/modification of vasoactive drugs, placement of MCS and/or change in UNOS transplant status occurred in 61 (33%) of the clinically prompted RHCs and 26 (14%) of the surveillance RHCs. Patients who underwent management change were more likely to receive a heart transplant (HR 1.58; CI 1.15-2.18) without an increased rate of death over the study period compared to those who did not have a management change. Multivariable analysis revealed that a hemoglobin level <12.2 g/dL (OR 2.96; CI 1.36-6.42) and a total bilirubin level >0.9 mg/dL (OR 5.07; CI 2.09-12.3) were predictors of management change. CONCLUSIONS: In patients awaiting OHT, RHCs prompted by clinical instability or routine surveillance resulted in frequent management changes, including earlier heart transplant and MCS implant. Our study supports the Class I recommendation to perform surveillance RHC in patients listed for OHT and suggests that centers should consider maintaining a low threshold for repeat RHC during the formal waiting time.

Klippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging.

A 51-year-old man with Klippel-Feil syndrome (KFS) and immunodeficiency syndrome, status postintravenous immunoglobulin therapy, presented with shortness of breath. He was found to have severe aortic regurgitation in the setting of a trileaflet aortic valve with thickened leaflets and mild prolapse of the right coronary cusp with left ventricular dilation and borderline left ventricular ejection fraction. Although various cardiac anomalies have been described in KPS, otherwise unexplained severe aortic regurgitation has not been previously reported to the best of our knowledge. The patient underwent an uncomplicated surgical aortic valve replacement with a 25-mm Medtronic Avalus pericardial tissue valve resulting in symptomatic improvement. Intra-operative management and transesophageal echocardiography can be particularly challenging in KFS patients. We describe the first reported case of severe aortic regurgitation in KPS, review the cardiac anomalies associated with the syndrome, and highlight the clinical challenges in intra-operative management of these patients.

Hypertrophic cardiomyopathy with dynamic obstruction and high left ventricular outflow gradients associated with paradoxical apical ballooning.

BACKGROUND: Acute left ventricular (LV) apical ballooning with normal coronary angiography occurs rarely in obstructive hypertrophic cardiomyopathy (OHCM); it may be associated with severe hemodynamic instability. METHODS, RESULTS: We searched for acute LV ballooning with apical hypokinesia/akinesia in databases of two HCM treatment programs. Diagnosis of OHCM was made by conventional criteria of LV hypertrophy in the absence of a clinical cause for hypertrophy and mitral-septal contact. Among 1519 patients, we observed acute LV ballooning in 13 (0.9%), associated with dynamic left ventricular outflow tract (LVOT) obstruction and high gradients, 92 ± 37 mm Hg, 10 female (77%), age 64 ± 7 years, LVEF 31.6 ± 10%. Septal hypertrophy was mild compared to that of the rest of our HCM cohort, 15 vs 20 mm (P < 0.00001). An elongated anterior mitral leaflet or anteriorly displaced papillary muscles occurred in 77%. Course was complicated by cardiogenic shock and heart failure in 5, and refractory heart failure in 1. High-dose beta-blockade was the mainstay of therapy. Three patients required urgent surgical relief of LVOT obstruction, 2 for refractory cardiogenic shock, and one for refractory heart failure. In the three patients, surgery immediately normalized refractory severe LV dysfunction, and immediately reversed cardiogenic shock and heart failure. All have normal LV systolic function at 45-month follow-up, and all have survived. CONCLUSIONS: Acute LV apical ballooning, associated with high dynamic LVOT gradients, may punctuate the course of obstructive HCM. The syndrome is important to recognize on echocardiography because it may be associated with profound reversible LV decompensation.

Successful MitraClip Transcatheter Mitral Valve Repair in the Setting of an Interatrial Mass.

MitraClip procedure is an emerging minimally invasive technique for patients with severe mitral regurgitation (MR) who are at high risk for surgery. Transseptal puncture is a key step in MitraClip procedure that is usually performed superiorly and posteriorly in the interatrial septum for optimal MitraClip placement. The presence of interatrial masses such as patent foramen ovale closure device or thrombus makes transeptal puncture more challenging. Safety and efficacy of MitraClip transcatheter mitral valve repair in the presence of intracardiac masses have not been described in the literature. This case describes a 65-year-old woman deemed high-risk for surgery, with symptomatic, severe primary MR and an unusual interatrial mass who underwent a successful MitraClip procedure with the use of three-dimensional (3-D) transesophageal echocardiography (TEE).

Management of hypertension in 2017: targets and therapies.

PURPOSE OF REVIEW: Approximately one-fourth of the adult population is diagnosed with hypertension, which has been associated with increased cardiovascular morbidity and mortality including cardiovascular death, myocardial infarction, heart failure and stroke. Early detection and treatment is key and can lead to a significant reduction in cardiovascular morbidity and mortality. RECENT FINDINGS: In this review, we discuss the management and treatment strategies in patients with hypertension in the current era. Blood pressure (BP) targets will be reviewed in accordance with the recent literature and current guidelines. There is a controversy about lower BP target in patients with coronary artery disease with some studies showing a J-curve relationship but a recent randomized trial (SPRINT) showing a benefit, albeit with controversy as to how BP was measured in the trial. Nevertheless, lower BP targets come with a price of needing more medication (thus impacting cost and compliance) and increases in medication-related adverse effects. There is a growing recognition that angiotensin-converting enzyme inhibitors or angiotensin receptor blockers, calcium antagonists or thiazide diuretics can be used a first-line therapy for hypertension. Evidence also supports the use of combination drug therapy as opposed to monotherapy for more synergistic effect on lowering of BP, offsetting side effects and for improved adherence to a drug regimen. SUMMARY: Overall, we aim to review BP targets and medical therapies for hypertension in the current era, recognizing varying clinical characteristics such as comorbidities and patient-risk profile.

Cystic fibrosis and pregnancy in the modern era: a case control study.

BACKGROUND: Increasingly, women with cystic fibrosis become pregnant. Outcomes of these women need further study particularly in the setting of improved survival in CF. METHODS: We performed a case-control study of pregnant CF women including 22 matched pairs with an average follow-up of 4.5 years. Nutritional outcomes, changes in lung function, and exacerbation rates were compared. RESULTS: Matched pairs were similar in age, sweat chloride, FEV1 and FVC % predicted, BMI, and diabetes status. Change in BMI, FEV1 and FVC % predicted at the end of pregnancy and at last follow-up were similar between groups. Moreover, rates of exacerbation before, during and after pregnancy were similar. On multivariable analysis pregnancy had no effect on change in lung function over the study period. Significant predictors of decline included higher pre-pregnancy lung function and pancreatic insufficiency. CONCLUSIONS: Pregnancy does not lead to immediate or medium-term adverse effects for CF patients.

Transitional cell carcinoma of the endometrium: a case report and review of the literature.

We report a case of primary transitional cell carcinoma of the endometrium and review the literature which reveals only 12 cases described to date. The patient presented with postmenopausal bleeding, and there were no distinctive clinical features. An endometrial sample taken at hysteroscopy was reported as a poorly differentiated, papillary, nonserous carcinoma with probable squamous metaplasia. The tumor removed at hysterectomy and bilateral salpingo-oophorectomy was almost all transitional cell with small areas of endometrioid, glandular differentiation. Immunohistochemistry demonstrated a similar immunoprofile to endometrioid carcinoma of the endometrium and different from reported cases of transitional cell carcinoma of the ovary and of the urinary tract.

Trichinosis of psoas muscle.

There are isolated case reports of Trichinella spiralis infestation in animals from India. We report the first case in man from India. The nematode was discovered incidentally during drainage of psoas abscess.