Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome.

BACKGROUND: It has been suggested that collagen abnormalities of the mitral valve are present in patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP). Genetic factors determining collagen synthesis and degradation have not been well defined in these patients. This study was undertaken to determine whether selective polymorphisms of matrix metalloproteinase-2 (MMP2) or transforming growth factor-ß (TGFß), with known or putative effects on collagen turnover, are more frequent in FMV/MVP. METHODS: Single nucleotide polymorphisms (SNPs) in select genes related to collagen turnover, including MMP2 rs2285053, MMP2 rs243865, TGFß1 rs1800469, and TGFß2 rs900, were determined in 98 patients with FMV/MVP who had severe mitral regurgitation and compared to 99 controls. RESULTS: MMP2 rs243865 was the only SNP significantly associated with FMV/MVP as compared to the control (odds ratio 2.07, 95% CI 1.23-3.50, p = 0.006). MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032). CONCLUSION: The frequency of certain MMP2 polymorphisms is higher in patients with the FMV/MVP syndrome and patients with FMV/MVP without the syndrome. The data suggest that a genetic predisposition that alters collagen turnover may play a role in the pathogenesis and development of FMV/MVP.

Minimally invasive transapical aortic valve implantation and simultaneous major pulmonary resection.

We report a 71-year-old male who underwent successful minimally invasive transapical aortic valve implantation to treat severe aortic stenosis, with simultaneous pulmonary resection for the treatment of lung cancer. At five-year follow-up the patient remains free of symptoms (NYHA I) and recurrence.

Diverticulum of the left ventricle: etiology and surgical treatment.

Congenital left ventricular (LV) diverticula are rare findings, particularly when first diagnosed in adulthood. We describe successful surgical repair of an isolated congenital apical LV diverticulum associated with an abnormal submitral apparatus in a young adult who received his diagnosis following a peripheral embolism. We intraoperatively identified an abnormally originating belly of the posteromedial papillary muscle, which arose from the interventricular septum, causing partition of the LV cavity and forming an apical aneurysmal communicating chamber. This anatomy of abnormal papillary muscle bifurcation was possibly the mechanism for the development of the apical diverticulum and to the best of our knowledge has not previously been described. Reattachment of the abnormal belly to its normal position preserved mitral valve competence, and an endoventricular patch repair restored LV volume and geometry.

Floppy mitral valve/mitral valve prolapse syndrome: Beta-adrenergic receptor polymorphism may contribute to the pathogenesis of symptoms.

BACKGROUND: Certain patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP) may have symptoms that cannot be explained on the severity of mitral valvular regurgitation (MVR) alone; hypersensitivity to adrenergic stimulation has been suggested in this group defined as the FMV/MVP syndrome. METHODS: Ninety-eight patients (75 men, 23 women) with mitral valve surgery for FMV/MVP were studied. Of those 41 (42%) had symptoms consistent with FMV/MVP syndrome [29 men (39%), 12 women (52%)]; median age of symptom onset was 30 years (range 10-63 years) and median duration of symptoms prior to valve surgery was 16 years (range 3-50 years). Ninety-nine individuals (70 men, 29 women) without clinical evidence of any disease were used as controls. Genotyping of ß1 and ß2 adrenergic receptors was performed. RESULTS: ß-Adrenergic receptor genotypes (ß1 and ß2) were similar between control and overall FMV/MVP patients. Subgroup analysis of patients, however, demonstrated that the genotype C/C at position 1165 resulting in 389 Arg/Arg of the ß1 receptor was more frequent in women compared to those without FMV/MVP syndrome and to normal control women (p<0.025). This polymorphism may be related to hypersensitivity to adrenergic stimulation as reported previously in these patients. CONCLUSION: This study shows a large proportion of patients with FMV/MVP, predominantly women, had symptoms consistent with the FMV/MVP syndrome for many years prior to the development of significant MVR, and thus symptoms cannot be attributed to the severity of MVR alone. Further, women with FMV/MVP syndrome, symptoms at least partially may be related to ß1-adrenergic receptor polymorphism, which has been shown previously to be associated with a hyperresponse to adrenergic stimulation.

Prevalence of "distressed" personality in patients with coronary artery disease and its correlation with morbidity after coronary surgery.

INTRODUCTION: The "distressed" (Type-D) personality is an emerging risk factor in cardiovascular diseases and is associated with an increased risk of impaired quality of life, morbidity and mortality. The purpose of this study was to explore the prevalence of Type-D personality among patients with coronary artery disease (CAD) and its association with the development of complications following coronary artery bypass grafting surgery. METHODS: A Greek version of the Type-D Personality Scale-14 (DS14), along with the Hospital Anxiety and Depression Scale (HADS) as well as the Ways of Coping Questionnaire (WCQ), were used. A cohort of 323 patients with CAD was examined. RESULTS: The prevalence of Type-D personality among Greek patients with CAD was found to be 18.24%. Type-D patients showed a higher rate of anxiety and depression compared to non Type-D patients. Type-D was also associated with passive coping and negatively correlated with active coping. Regarding postoperative morbidity, type-D patients were at an increased risk of developing postoperative atrial fibrillation, while no significant differences were found in the development of any other complication. CONCLUSIONS: The impact of Type-D personality on health outcomes should be studied further, both in clinical samples and in the general population.

"Asthma": an unusual presentation of cor triatriatum.

We discuss an extremely unusual presentation of a 19-month-old child with cor triatriatum and an intact interatrial septum, who presented for the first time at the age of 16 months with wheezing and repeated lower respiratory tract infections. At surgery, a thick fibromuscular membrane with a 2-3 mm eccentrically placed orifice was identified, and following surgical resection of the membrane the child made an uneventful recovery. This case demonstrates the need for investigating children with "asthma" who do not respond to conventional medical management. A rare but potentially correctable underlying cause may be found.

Modified (Valsalva graft) aortic root reimplantation for successful repair of pulmonary autograft aneurysm after Ross procedure.

Dilatation of the pulmonary autograft after the Ross procedure is a possible complication, necessitating aortic valve replacement. We present a case of a patient who developed pulmonary autograft dilatation and was treated successfully with valve-sparing aortic root reimplantation with a Valsalva graft.

Ross procedure: medium-term results.

INTRODUCTION: The Ross procedure is a safe alternative option for aortic valve replacement in selected patients. Here we present the medium-term results of our experience with this procedure. METHODS: Between December 1998 and January 2004, 21 patients (16 male, 5 female, mean age 42 years) underwent aortic valve replacement using the Ross operation. Indications for operation were aortic stenosis in 5 patients, aortic regurgitation in 5 patients, aortic stenosis and regurgitation in 9 patients, acute septic endocarditis of a native aortic valve in 1 patient and of a mechanical aortic valve in 1 patient. The root replacement technique was used in 17 patients (81%) and the subcoronary insertion technique in 4 patients (19%). RESULTS: Hospital mortality was 4.7% (1 patient) and late mortality is zero. Mean follow up duration was 4 years (range 1-6 years). On follow up all of the patients were in New York Heart Association class I. One patient developed neo-aortic root dilatation (5.1 cm) with mild neo-aortic valve regurgitation and underwent a modified David I procedure using a Valsalva graft. None of the patients had a gradient of more than 10 mmHg through the pulmonary autograft. Sixteen patients had no aortic insufficiency, while mild aortic regurgitation developed in three patients. Pulmonary valve regurgitation developed in 11 patients (range 8-75 mmHg) but only one patient (75 mmHg) developed significant asymptomatic stenosis. CONCLUSIONS: Our experience with the Ross procedure suggests that aortic root replacement with a pulmonary autograft can be performed safely in adult patients. Pulmonary homograft degeneration requiring reintervention might be a rare complication.