Genetically Established Familial Amyloidotic Polyneuropathy from India: Narrating the Diagnostic "Odyssey" and a Mini Review.

CONTEXT: Familial amyloidotic polyneuropathy (FAP) is often misdiagnosed as other neuropathic illnesses. AIM: To highlight the diagnostic "odyssey" in three families of Indian origin with FAP. SETTINGS AND DESIGN: Cross-sectional, hospital-based study. SUBJECTS AND METHODS: Clinical, radiological, and histological features as well as causes for delayed diagnosis were analyzed in genetically confirmed patients with FAP. STATISTICAL ANALYSIS: Descriptive. RESULTS: Age at evaluation ranged from 24 to 42 years and symptom duration from 1 to 10 years. Referral diagnoses included: (i) in patients 1 and 2-familial dysautonomia, Shy-Drager syndrome, and spino-cerebellar ataxia with seizures, (ii) in patient 3-chronic inflammatory demyelinating polyradiculoneuropathy, and (iii) in patient 4-porphyria. In addition, patients 1 and 2 developed leptomeningeal involvement that was mistaken for tubercular meningitis. Reasons for missed diagnosis included: clinician's lack of awareness, not paying sufficient attention to family history, presence of laboratory distractors such as elevated urinary porphyrins, lack of meticulous search for amyloid in the biopsy, and not performing specific stain for amyloid viz. Congo red. Evidence of amyloid in histological studies of nerve and skin supported by genetic variations in transthyretin gene clinched the diagnosis. The variants identified in our cohort included p.Gly73Glu, p.Val71Ala, and p.Val50Met. CONCLUSION: Lack of awareness and meticulous work-up by clinicians and pathologists contributed to delayed diagnosis of FAP. It is important to establish an accurate diagnosis as these patients may be candidates for upcoming therapies.

A tale of four valves: outcome of Brucella endocarditis: a case series.

BACKGROUND: Brucellosis is a zoonotic infection. Humans contract brucellosis through inhalation of aerosolized infected particles, or when they come in direct contact with infected animal parts, or on consuming unpasteurised dairy products. It can affect multiple organs and systems. Endocarditis is diagnosed late in the course of the disease with mostly aortic valve involvement with serious morbidity and mortality. CASE SUMMARY: We report a case series of four patients with Brucella endocarditis. The first patient presented with fever, malaise, and exertional breathlessness. He underwent aortic valve replacement for refractory heart failure and bulky vegetations after failed medical therapy. The second patient presented with fever, breathlessness New York Heart Association (NYHA) III, with arthralgia, myalgia, anorexia, and weight loss. In view of aortic abscess with impending rupture and compression of left main coronary artery, aortic valve replacement was performed on the 4th day of antibiotic treatment. The third patient presented with fever, fatigue, NYHA II, and developed peripheral embolization but responded to medical treatment alone. The fourth patient presented with intermittent fever for 7 months. During hospitalization, he suffered acute limb ischaemia and stroke with absence of left dorsalis pedis and posterior tibial pulsation. Brucella IgG ELISA was positive. Mitral valve replacement was done subsequently with unremarkable hospital course. DISCUSSION: Brucellosis is a challenging diagnosis to make. The diagnosis and treatment is often delayed as it presents with non-specific symptoms and signs. Cardiac involvement occurs in only 2% of the cases, but accounts for 80% of the mortality due to brucellosis. Brucella endocarditis should be suspected in cases of endocarditis with negative blood cultures and a risk of exposure. The most accepted treatment for Brucella endocarditis is a combination of antimicrobial therapy with surgery.

A rare complication of acute myocardial infarction: Intra-myocardial dissecting hematoma.

A rare and unusual form of myocardial rupture that can complicate acute myocardial infarction is intra-myocardial dissecting hematoma (IDH). Reports in the literature describing this entity are limited to case reports or series. The diagnosis prior to the advent of noninvasive imaging was at autopsy. We present a case of IDH occurring after acute anterior wall myocardial infarction that terminated fatally preceded by a hemodynamically unstable incessant ventricular tachycardia.

Anomalous mitral arcade variant with accessory mitral leaflet and chordae presenting for the first time with acute decompensated heart failure in an adult.

The anomalous mitral arcade is a rare congenital malformation of the mitral valve and its tensor apparatus. It is characterized by enlarged papillary muscles connected to each other and to the free edge of the anterior mitral leaflet by a bridge of fibrous tissue. We report a rare variant of anomalous mitral arcade that was associated with accessory mitral leaflet in subaortic area and accessory chordae. Our patient was asymptomatic till the age of 18 years, when he presented for the first time in acute decompensated heart failure secondary to severe mitral regurgitation and left ventricular dysfunction. The patient had rapid deterioration with fatal outcome.

Incidence and predictors of atrial septal defect after percutaneous transvenous mitral commissurotomy - a transesophageal echocardiographic study of 209 cases.

BACKGROUND: The incidence of atrial septal defect (ASD) after percutaneous transvenous mitral commissurotomy (PTMC) ranges from 15.2% to 92% in small studies. AIM: To estimate the incidence of atrial septal defect (ASD) following PTMC and to determine the factors contributing to its development. METHODS: We studied 209 patients with mitral stenosis (MS) undergoing PTMC. Transesophageal echocardiography (TEE) with color Doppler examination was performed to detect ASD. RESULTS: TEE demonstrated ASD in 139 (66.5%) of 209 patients. The mean diameter of the interatrial septal defect detected by TEE was 4.47 ± 1.7 mm. The most common site of septal puncture was the inferior vena caval side of the interatrial septum followed by fossa ovalis. Color flow imaging across the defect showed left to right shunting in all the patients (100%). We examined the relationship of age, Wilkins score, left atrial volumes, the mitral valve orifice area, mitral valve gradient, and the degree of mitral and tricuspid regurgitation between the group that developed ASD and the group without ASD and found that none of these factors predicted the development of ASD. A residual ASD was seen in 11 patients (8.7%) at 6-month follow-up. CONCLUSION: Incidence of residual atrial septal defect immediately following PTMC by TEE color flow Doppler imaging is 66.5%. Surrogate markers of elevated left atrial pressures do not determine the development of atrial septal defect after PTMC. The majority of the defects close spontaneously and a residual defect is observed in 8.7% patients at 6 months.

Endothelial Function and Carotid Intimal Medial Thickness in Asymptomatic Subjects With and Without Cardiovascular Risk Factors.

BACKGROUND: The study was performed to assess endothelial function and carotid intimal-medial thickness (IMT) in asymptomatic patients, with and without risk factors for cardiovascular disease. METHODS: A cross sectional survey of asymptomatic patients, aged 21 - 60 years, with and without risk factors for cardiovascular disease was recruited from the outpatient department of Cardiology. Endothelial function was evaluated by flow mediated dilatation (FMD) of the brachial artery and carotid IMT was determined using a high resolution B mode ultrasonography system. RESULTS: A total of 104 patients were included in the study. The mean carotid IMT was 0.67 ± 0.05 mm in the group without risk factors and 0.78 ± 0.12 mm in the group with risk factors (P value < 0.05). Endothelial dysfunction (ED) and increased carotid IMT were more significant in the group with risk factors (P value < 0.001). Age, total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, blood pressure, body mass index and HbA1c had a significant correlation with both IMT and FMD response. A higher proportion of subjects with diabetes mellitus (87%), metabolic syndrome (86%) and family history of premature coronary artery disease (78%) had ED. In subjects with normal coronary angiogram, 71% had abnormal FMD response and 36% had increased carotid IMT. CONCLUSION: In asymptomatic subjects, risk factors for cardiovascular disease are significantly associated with objective evidence of ED and increased carotid IMT. FMD response and carotid IMT values are likely to yield additional information beyond traditional risk factors for classifying patients in regard to the likelihood of cardiovascular event. Therapeutic measures with the aim of improving endothelial function and reducing carotid IMT may reduce the burden of cardiovascular disease.

Incidence and predictors of left atrial thrombus in patients with rheumatic mitral stenosis and sinus rhythm: a transesophageal echocardiographic study.

BACKGROUND: Rheumatic mitral stenosis (MS) predisposes to left atrial (LA) thrombus formation. The reported incidence of LA clot formation in sinus rhythm (SR) is 2.4-13.5% in small studies. AIM: To determine the incidence of LA thrombus in MS in SR in a large cohort of patients and to determine the factors that predict its development. METHODS: Total of 848 consecutive patients with MS in SR who were being evaluated for percutaneous transvenous mitral commisurotomy were included in the study. Both transthoracic (TTE) and transesophageal echocardiograms (TEE) were performed to identify clot and other hemodynamic parameters. RESULTS: The mean age of the study population was 34 ± 9 years and the mean mitral orifice area was 0.78 ± 0.18 cm(2). Out of 848 patients 56 (6.6%) had LA thrombus on TEE. On univariate analysis there was a trend toward thrombus formation in individuals with age >44 years, LA inferosuperior dimension >6.9 cm, mean mitral gradient >18 mmHg and dense spontaneous echo contrast (SEC). On multivariate analysis none of the factors predicted clot formation. CONCLUSION: The incidence of LA thrombus in MS in SR is 6.6%. TEE is warranted in MS patients in SR when they are >44 years, LA inferosuperior dimension >6.9 cm and mean mitral gradient >18 mmHg. When SEC is absent on TEE, thrombus formation is unlikely.

Intraoperative pulmonary artery stenting in aortoarteritis: a hybrid procedure.

A 40-year old male presented with history of dyspnea and recurrent syncope. Preliminary evaluation revealed findings suggestive of severe pulmonary hypertension. His echocardiogram revealed severe stenosis of the right pulmonary artery (RPA) with severe pulmonary hypertension, which was confirmed on 64-slice MSCT. On cardiac catheterization, the stenotic segment could not be crossed. Hence he underwent surgical reconstruction of the RPA. Post-operatively, he developed arterial desaturation and hypotension due to compression of the reconstructed segment by the ascending aorta. Subsequently, intraoperative direct stenting of the RPA was performed on a beating heart. Post-procedure there was a significant drop in right heart pressures which was sustained on 3-month follow up. The patient also had occlusion of the Coeliac and Superior Mesenteric arteries which was demonstrated on MSCT and angiography, suggesting Aortoarteritis as the etiology. This case illustrates an unusual presentation of Aortoarteritis and the role of hybrid procedures in situations where percutaneous intervention may not be technically feasible.