Percutaneous management of prosthetic valve thrombosis.

BACKGROUND: Thrombosis of a prosthetic valve is a serious complication in patients with prosthetic heart valves. Thrombolysis is the initial choice of treatment. Patients who do not respond to thrombolysis are subjected to surgery which carries a high risk. We report a case series of 5 patients with prosthetic mitral valve thrombosis who did not respond to thrombolysis and were subjected to percutaneous manipulation of the prosthetic valves successfully and improved. METHODS: Five patients who were diagnosed to have prosthetic mitral valve thrombosis and failed to respond to a minimum of 36 h of thrombolysis (persistent symptoms with increased gradients, abnormal findings on fluoroscopy),were subjected to percutaneous treatment after receiving proper consent. None of them had a visible thrombus on transthoracic echocardiogram. All patients underwent transseptal puncture following which a 6F JR4 guiding catheter was passed into the left atrium. The valve leaflets were repeatedly hit gently under fluoroscopic guidance till they regained their normal mobility. RESULTS: Mean age was 38.8 years. Average peak and mean gradients prior to the procedure were 38 and 25 and after the procedure were 12 and 6 mm of Hg respectively. All patients had successful recovery of valve motion on fluoroscopy with normalization of gradients and complete resolution of symptoms. None of the patients had any focal neurological deficits, embolic manifestations or bleeding complications. CONCLUSIONS: Percutaneous manipulation of prosthetic valves in selected patients with prosthetic valve thrombosis who do not respond to thrombolytic therapy is feasible and can be used as an alternative to surgery.

Use of tenecteplase in recurrent prosthetic valve thrombosis.

Prosthetic valve thrombosis (PVT) is a serious complication of mechanical prosthetic heart valves, the available treatment options for which are either thrombolytic therapy or surgery. In patients who have already received streptokinase to treat a previous episode of PVT, the therapeutic options are limited. Herein, the case is reported of an elderly female patient with a second episode of PVT treated successfully with tenecteplase.

A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.

Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder affecting the cardiac muscle and exhibits varied clinical symptoms because of genetic heterogeneity. Several disease causing genes have been identified and most code for sarcomere proteins. In the current study, we have carried out clinical and molecular analysis of FHC patients from India. FHC was detected using echocardiography and by analysis of clinical symptoms and family history. Disease causing mutations in the ß-cardiac myosin heavy chain (MYH7) and Myosin binding protein C3 (MYBPC3) genes were identified using Polymerase Chain Reaction-Deoxyribose Nucleic Acid (PCR-DNA) sequencing. Of the 55 patient samples screened, mutations were detected in only nineteen in the two genes; MYBPC3 mutations were identified in 12 patients while MYH7 mutations were identified in five, two patients exhibited double heterozygosity. All four MYH7 mutations were missense mutations, whereas only 3/9 MYPBC3 mutations were missense mutations. Four novel mutations in MYBPC3 viz. c.456delC, c.2128G>A (p.E710K), c.3641G>A (p.W1214X), and c.3656T>C (p.L1219P) and one in MYH7 viz. c.965C>T (p.S322F) were identified. A majority of missense mutations affected conserved amino acid residues and were predicted to alter the structure of the corresponding mutant proteins. The study has revealed a greater frequency of occurrence of MYBPC3 mutations when compared to MYH7 mutations.

The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families.

BACKGROUND: Familial hypertrophic cardiomyopathy (FHC) is a Mendelian disorder usually caused by mutations in any one of more than 12 genes, most of which encode sarcomere proteins. The disease exhibits extensive genetic heterogeneity, and it is important to identify mutations that result in adverse symptoms and/or lethality in affected individuals. An analysis of disease-causing mutations has been initiated in the Indian population to determine prevalent mutations. METHODS: FHC was detected using echocardiography and by analysis of clinical symptoms and family history. The disease-causing mutation was identified using polymerase chain reaction DNA sequencing. RESULTS: The p.R787H mutation was identified in the MYH7 gene in two FHC families. Sequence and structure analysis suggested impaired binding of the mutant protein to the myosin essential light chain. CONCLUSIONS: Although the mutation results in variable clinical symptoms in the affected individuals, probably owing to the effect of modifier genes and/or environmental factors, it does not appear to be a lethal mutation.

Assessment of IVC filter efficacy in prevention of pulmonary thrombo-embolism by 99mTc-MAA lung perfusion scintigraphy--a case series and review of literature.

INTRODUCTION: Anticoagulant therapy is the standard treatment of venous thrombo-embolism (VTE). Permanent inferior vena cava (IVC) filter is an important adjunctive therapy in these patients to prevent the complications like potentially fatal pulmonary embolism and chronic thrombo-embolic pulmonary hypertension. We studied patients with proximal deep vein thrombosis (DVT) of lower limbs and recurrent pulmonary thrombo-embolism (PTE), who were put on permanent IVC filters for the prevention of further episodes of PTE. The efficacy of filters in prevention of PTE was assessed by clinical history and was supported by follow-up (99m)Tc-MAA lung perfusion scintigraphy. METHODS AND RESULTS: We prospectively enrolled 7 patients of PTE, who were put on IVC filter from July 2002-April 2005. All patients had (99m)Tc-MAA lung perfusion scan before filter implantation. Percutaneous IVC filter placement in infra-renal position was done. All patients were put on adequate oral anticoagulant treatment with target INR of 2.0-3.0. At follow-up two patients died - one died of intractable right heart failure at 6 months and other died of carcinoma colon metastasis after 16 months. The mean follow-up of rest of five patients was 3.5 years (range 20-54 months), and none of them had clinically evident further episode of DVT or PTE. Their repeat lung perfusion scan at 1 year of follow-up showed marked improvement in perfusion with no evidence of additional fresh/new defects. CONCLUSION: Follow-up (99m)Tc-MAA lung perfusion scan in PTE patients, who are on IVC filter, can demonstrate the significant improvement in lung perfusion secondary to prevention of further pulmonary embolism episodes and resolution of pulmonary thrombus by continued anticoagulant therapy.

Idiopathic spontaneous coronary artery dissection presenting as acute myocardial infarction in a young boy.

Spontaneous coronary artery dissection is a rare cause of acute myocardial infarction. It is more commonly seen in the younger age group particularly in women. We report a case of 14-year-old boy that presented with acute myocardial infarction (MI), with left ventricular (LV) dysfunction and was detected to have left main coronary artery dissection on coronary angiography. Myocardial perfusion imaging did not show any evidence of reversible ischemia. Patient was managed conservatively and was marginally improved. This case highlights one of the rare causes of myocardial infarction and the use of myocardial perfusion imaging in selecting treatment options for management of this rare entity.