Current barriers and recommendations on the diagnosis of transthyretin amyloid cardiomyopathy: a Delphi study.

Objectives: This study has been conducted to investigate the non-invasive diagnostic journey of patients with a transthyretin amyloid cardiomyopathy (aTTR-CM) in Turkey, identify the challenges and uncertainties encountered on the path to diagnosis from the perspectives of expert physicians, and develop recommendations that can be applied in such cases. Methods: This study employed a three-round modified Delphi method and included 10 cardiologists and five nuclear medicine specialists. Two hematologists also shared their expert opinions on the survey results related to hematological tests during a final face-to-face discussion. A consensus was reached when 80% or more of the panel members marked the "agree/strongly agree" or "disagree/strongly disagree" option. Results: The panelists unanimously agreed that the aTTR-CM diagnosis could be established through scintigraphy (using either 99mTc-PYP, 99mTc-DPD, or 99mTc-HMPD) in a patient with suspected cardiac amyloidosis (CA) without a further investigation if AL amyloidosis is ruled out (by sFLC, SPIE and UPIE). In addition, scintigraphy imaging performed by SPECT or SPECT-CT should reveal a myocardial uptake of Grade ≥2 with a heart-to-contralateral (H/CL) ratio of ≥1.5. The cardiology panelists recommended using cardiovascular magnetic resonance (CMR) and a detailed echocardiographic scoring as a last resort before considering an endomyocardial biopsy in patients with suspected CA whose scintigraphy results were discordant/inconclusive or negative but still carried a high clinical suspicion of aTTR-CM. Conclusion: The diagnostic approach for aTTR-CM should be customized based on the availability of diagnostic tools/methods in each expert clinic to achieve a timely and definitive diagnosis.

Unusual Case of Pulmonary Hypertension due to Acquired Arteriovenous Fistula.

Pulmonary hypertension is a disease process affecting pulmonary circulation and is defined by an increase in pulmonary artery pressure subsequently causing right ventricular failure. Vascular complications, including arteriovenous (AV) fistula, are recognized, but are uncommon complications of spinal surgery. AV fistula increases venous return to the right heart and can promote a volume overload related high-output cardiac state, pulmonary hypertension, and right heart failure. Hereby, we describe a rare pulmonary hypertension case with severe right heart failure, lower leg edema, and progressive dyspnea caused by an AV fistula between the left common iliac artery and vein as a complication of a lumbar spinal/disk surgery. Pulmonary hypertension was confirmed by hemodynamic assessments and the etiology was established by both abdominal computed tomography and conventional peripheric angiography. After closure of the AV-fistula by stent-graft implantation, the right heart failure resolved completely.

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

BACKGROUND: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. METHODS: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. RESULTS: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. CONCLUSIONS: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.

Evaluation of cardiac autonomic functions in myasthenia gravis.

OBJECTIVE: We aimed to comprehensively evaluate cardiac autonomic function in patients with MG and to investigate the relationship between this disorder and disease duration, thymoma and acetylcholine receptor antibody positivity in cases of cardiac autonomic disorder. METHODS: The study included 30 patients with MG and 30 age-matched healthy control subjects. Haemodynamic parameters (heart rate, systolic and diastolic blood pressure) and autonomic parameters (low frequency [LF], high-frequency [HF], sympathovagal balance [LF/HF], baroreceptor reflex sensitivity [BRS]) of the patients were automatically measured at rest and in a tilted position with the Task Force Monitor. RESULTS: The mean systolic and diastolic blood pressure measurements obtained at rest and during the tilt test were higher in patients with MG. Sympathovagal balance has been disturbed in favour of sympathetic tone, and parasympathetic insufficiency has become more prominent. When baroreceptor sensitivity was used as the second parameter to evaluate autonomic heart functions, BRS at rest and during the tilt test was lower in the MG group compared with the control group. DISCUSSION: These results suggest that sympathovagal balance has been disturbed in favour of sympathetic tone and that parasympathetic insufficiency has become more prominent. The current findings support the presence of cardiac autonomic involvement in patients with MG. The determination of cardiac autonomic function via noninvasive methods among patients with MG has high predictive value. The identification of autonomic dysfunction at an early stage and the early treatment of cardiovascular diseases can reduce morbidity and mortality.

Right atrial thrombus associated with subclavian catheter developed due to total parenteral nutrition application.

Central venous catheterization as a frequent routine clinical procedure may have significant complications. Mechanical complications may occur during catheter placement, whereas thromboembolic and infectious complications can be seen during follow-up. Total parenteral nutrition (TPN) associated central venous catheterizations may result in early mechanical complications and thrombotic and infectious complications in the long term. This paper describes a patient diagnosed as mitochondrial neurogastrointestinal encephalomyopathy requiring long-term central venous catheterization for TPN implementation, who had an infected thrombus on the catheter tip resected by cardiac surgery.

Tricuspid valve thrombus: a case report associated with gonadotropin-releasing hormone analogue therapy and review of the literature.

A 35-year-old woman with a previously repaired atrial septal defect was referred for preoperative evaluation before laparoscopic surgery. The patient was asymptomatic, and a transesophageal echocardiographic examination revealed a probable thrombus attached to the tricuspid valve. The patient's history included therapy with a gonadotropin-releasing hormone analogue and deep venous thrombosis five months earlier. The tricuspid valve thrombus disappeared after anticoagulant therapy. Warfarin was initiated for prophylaxis. During the follow-up, the patient was event-free during laparoscopic surgery and pregnancy (when warfarin was switched to acetylsalicylic acid) and gave birth to a healthy term baby. Because etiological investigations revealed no reason for the tricuspid valve thrombus, it was considered to be related to the procoagulant state induced by hormonal treatment. The patient was scheduled for close follow-up.

Obstructive metastatic malignant melanoma of the heart: Imminent pulmonary arterial occlusion caused by right ventricular metastasis with unknown origin of the primary tumor.

Whether primary or metastatic, cardiac neoplastic diseases are relatively uncommon disorders. Although any malignancy may involve the heart, malignant melanoma (MM) has a significant tendency to metastasize to the heart. Cardiac involvement may occur during the course of MM or years after surgical therapy, but rarely metastasis may be the initial manifestation of the disease. This article reports a metastatic MM case that was initially manifested by heart failure symptoms because of right ventricle outflow obstruction and for which the primary focus could not be determined.

Imminent pulmonary embolism: a fatal mobile right atrial thrombus.

Right sided heart thrombi are infrequent and if they are mobile they may cause serious morbidity and mortality due to massive pulmonary embolism or paradoxical embolism. Malignancies are one of the important etiological factors for right heart thrombi. A patient with operated but recurrent ovarian carcinoma, presented with symptoms of heart failure was admitted to oncology department. Rapidly progressing dyspnea and a pre-syncope attack required consultation of a cardiologist and echocardiography revealed a mobile thrombus in the right atrium. Urgent open heart surgery was decided but imminent massive pulmonary embolism complicated the case leading to irreversible cardiogenic shock. By means of the presented case this paper overviews etiological factors and treatment options for right sided heart thrombi.

Pericardial tamponade and large pericardial effusions: causal factors and efficacy of percutaneous catheter drainage in 50 patients.

In 50 patients treated from January 1998 through March 2002 for pericardial effusion and tamponade, we retrospectively investigated the efficacy of percutaneous placement of an indwelling pericardial catheter guided by 2-dimensional echocardiography and fluoroscopy. We also investigated causation. In 80% of the patients, we were able to determine specific causes through clinical, serologic, and cytologic investigation: cancer in 15 patients, chronic renal failure in 11, systemic lupus erythematosus in 2 rheumatoid arthritis in 2, Dressler syndrome in 2, tuberculosis in 1, blunt chest trauma in 1, purulent pericarditis in 1, and probably viral pericarditis in 5. No specific cause could be determined in 10 patients (20%). We did not observe any complication due to the procedure. Two patients died during hospitalization. After hospitalization, 9 patients with metastatic cancer died within 3 months. A 2nd percutaneous drainage procedure was required in 2 cancer patients. Recurrence of pericardial effusion and tamponade and the requirement of pericardiectomy occurred in 2 patients with perfusion of unknown cause and in 1 patient with perfusion due to rheumatoid arthritis. Histologic examination of pericardial tissue in patients with idiopathic disease showed fibrinous pericarditis but no causal factor. In the group with idiopathic pericardial effusion, 2 patients with multiple mediastinal lymphadenopathy underwent mediastinal exploration; biopsy revealed nonspecific lymphadenitis and fibrinous pericarditis. In patients with large pericardial effusions and tamponade, the specific cause was in most cases already known or obtained by initial clinical and laboratory investigation. Sufficient cardiac decompression was achieved by percutaneous pigtail catheter drainage.

[Noninvasive methods for the diagnosis of rejection after heart transplantation]. / Kalp Transplantasyonu Yapilan Olgularda Akut Rejeksiyon Tanisinda Kullanilan Noninvazif Yöntemler.

Acute rejection is a major complication after heart transplantation. Prognosis depends on early detection and effective treatment. Currently, the most reliable technique for the detection of acute cardiac rejection is endomyocardial biopsy (EMB). Because of invasive procedure, it is not suitable for daily monitoring. If the pattern of rejection shows a focal distribution, false-negative results can be expected. So far, many studies were performed to evaluate diagnostic value of noninvasive procedures in acute rejection, but none of them was found to be superior to EMB. Value of different noninvasive procedures in the diagnosis of acute rejection after heart transplantation is discussed in this review.

Primary percutaneous coronary interventions in acute myocardial infarction in diabetic versus non-diabetic patients. In-hospital and long-term results.

BACKGROUND: It has been well established that in the pre-thrombolytic era diabetic patients had poorer clinical outcome after acute myocardial infarction (AMI) compared to non-diabetic patients. Less is known about the impact of diabetes on early and late clinical outcomes in patients with AMI undergoing primary percutaneous coronary interventions (PCI). AIM: To compare the in-hospital and long-term clinical outcomes of AMI patients with and without diabetes. METHODS: Seven hundred seventy-four patients who underwent primary PCI for AMI in our institution between 1997 and 2001 were included in the study. We compared the angiographic and clinical outcomes of 633 (81.8%) non-diabetic (aged 55.9+/-10.6 years; 82.6% male) and 141 (18.2%) diabetic (aged 56.8+/-11.7 years; 63.1% male) patients. RESULTS: Diabetic patients had a higher incidence of hypertension, hyperlipidemia, and unstable hemodynamic status compared to non-diabetic patients (p=0.001, 0.003, 0.001, respectively). Smoking and male gender rates were significantly more frequent in non-diabetic patients (p=0.001, 0.001, respectively). Angiographic success and prominent clinical improvement were achieved in 96.4% and 90.7% of diabetics vs 96.7% and 95.1% of non-diabetics (p=NS and 0.04, respectively). Diabetic patients had a higher incidence of in-hospital deaths and overall events (p=0.028). At one-month follow-up, diabetic patients required more target vessel revascularisation (5.6% vs 1.6%; p=0.006), which accounted for the majority of major cardiac events at one month (20.6% vs 7.4%; p=0.003). At a mean follow-up of 7.2+/-2.7 months, 92.9% of non-diabetic and 88% of diabetic patients were still alive (p=0.05). Overall survival without any major cardiac event (death, new MI or target vessel revascularisation) at 7.2+/-2.7 month follow-up was 75.8% for non-diabetics and 58.1% for diabetic patients (p<0.01). In the multivariate analysis age, diabetes, shock, hemodynamic instability and female gender were the most important predictors for the development of early and late major cardiovascular events. CONCLUSIONS: Primary PCI in acute MI is effective in restoring TIMI 3 coronary flow both in diabetic and non-diabetic patients. This procedure may reduce mortality in both groups, particularly in diabetic patients in whom this benefit is more prominent compared to thrombolytic therapy. Nevertheless, early and long-term event rates are significantly higher in diabetics than in non-diabetic patients.

[Prognostic factors of mitral stenosis during pregnancy]. / Gebelikte mitral darliginin prognostik faktörleri.

OBJECTIVE: To identify characteristics associated with complications during pregnancy in patients with mitral stenosis. METHODS: Thirty-seven pregnant women with mitral stenosis, followed-up from 1998 to 2001 were evaluated. Predictor variables were the mitral valve area (MVA) measured by echocardiogram and functional class (FC) before pregnancy according to NYHA criteria. Progression of functional class, thromboembolism, death, need in medical abortion, cardiac surgery or balloon mitral valvulotomy were accepted as maternal events. Fetal/neonatal events were determined as abortion, fetal or neonatal death, prematurity or low birth weight (p<2.500 g), and extended stay in the nursery or hospitalization in newborn intensive care unit. RESULTS: The mean +/- SD of age of the patients was 24.7+/-5.8 years. The eventful and uneventful patients were similar in age and percentage of first pregnancies. Of patients with an events occuring during gestational period, 37. 5% had class I functional capacity whereas 62.5% had class II/III (p=0.001). A clinical event was noted in 34 % of the patients with sinus rhythm and in all of patients with atrial fibrillation (p=0.007). The mean mitral valve area was 1.11+/-0.23 cm2 in the group with clinical event and 1.6+/-0.27 cm2 in the group without an event (p<0.001). The most frequently observed maternal complication was the worsening of the functional capacity and the most frequent fetal/neonatal complications were prematurity and low birth weight. Mitral valve area and functional capacity were found to be significantly related with maternal complications but not with the fetal/neonatal complications. CONCLUSION: In pregnant women with mitral stenosis, the MVA and the FC are strongly associated with maternal complications but not related to fetal/neonatal events.