Papiloflebitis como manifestación de poliarteritis nodosa / Papillophlebitis as manifestation of polyarteritis nodosa

Varón de 35 años de edad diagnosticado de poliarteritis nodosa que desarrolló una papiloflebitis de su ojo izquierdo. Presentó en su evolución edema macular que fue tratado con inyecciones intravítreas de aflibercept con buena evolución posterior y recuperación completa de la agudeza visual. En el curso de su enfermedad presentó también epiescleritis del ojo adelfo. La papiloflebitis consiste en una oclusión de la vena central de la retina no isquémica de origen inflamatorio. La poliarteritis nodosa es una vasculitis necrotizante sistémica caracterizada por la afectación de arterias musculares de pequeño y mediano calibre. La afectación ocular se produce en el 10-20% de los casos y típicamente afecta a las arterias coroideas. La afectación venosa es extremadamente rara y si se produce suele ser por extensión de la inflamación adyacente

A 35 year-old-man diagnosed with polyarteritis nodosa developed papillophlebitis on his left eye. Throughout the evolution of the disease, he had a macular oedema treated with intravitreal injections of aflibercept, with adequate recovery of visual acuity. He also had episcleritis on the other eye. Papillophlebitis is a non-ischaemic central retinal vein occlusion of inflammatory cause. Polyarteritis nodosa is a systemic necrotising vasculitis characterised by lesions of small and medium sized arteries. Ocular involvement occurs in 10-20% of patients, and typically affects the choroidal arteries. Only arteries are usually affected, but in very rare cases adjacent veins may be involved due to the adjacent inflammation

Papillophlebitis as manifestation of polyarteritis nodosa. / Papiloflebitis como manifestación de poliarteritis nodosa.

A 35 year-old-man diagnosed with polyarteritis nodosa developed papillophlebitis on his left eye. Throughout the evolution of the disease, he had a macular oedema treated with intravitreal injections of aflibercept, with adequate recovery of visual acuity. He also had episcleritis on the other eye. Papillophlebitis is a non-ischaemic central retinal vein occlusion of inflammatory cause. Polyarteritis nodosa is a systemic necrotising vasculitis characterised by lesions of small and medium sized arteries. Ocular involvement occurs in 10-20% of patients, and typically affects the choroidal arteries. Only arteries are usually affected, but in very rare cases adjacent veins may be involved due to the adjacent inflammation.

Cardiopatías congénitas y embarazo / Congenital heart disease and pregnancy

Las cardiopatías congénitas han ido aumentando entre las mujeres embarazadas de los países desarrollados debido a su mayor supervivencia, la tardía edad gestacional, las nuevas técnicas de fecundación y el aumento de los factores de riesgo cardiovascular. Los cambios fisiológicos del embarazo, parto y posparto conllevan un incremento en el volumen plasmático, la frecuencia cardiaca, el gasto cardiaco y un descenso de las resistencias vasculares periféricas. Aunque bien tolerados en las pacientes con corazones estructuralmente sanos, estos cambios pueden conllevar un mayor riesgo de morbimortalidad materno fetal entre pacientes con cardiopatía. De ahí que conocer la fisiopatología del embarazo, los fármacos que pueden ser utilizados, el riesgo de transmisión de la cardiopatía materna al feto o las cardiopatías congénitas que conllevan un mayor riesgo obstétrico resulte fundamental a la hora de realizar una adecuada valoración, seguimiento y tratamiento de la cardiópata gestante

Congenital heart disease has increased among pregnant women from developed countries due to their longer survival, later age at pregnancy, new fertilization techniques and increased cardiovascular risk factors. The physiological changes of pregnancy, childbirth and postpartum increase plasma volume, heart rate, and cardiac output and decrease peripheral vascular resistance. Although these changes are well tolerated in patients with structurally healthy hearts, these changes may lead to a greater risk of fetal and maternal morbidity and mortality among patients with heart disease. Therefore, knowledge of the pathophysiology of pregnancy, the drugs that can be used, the risk of maternal transmission of disease to the fetus, and of the congenital heart diseases that pose an increased obstetric risk is essential for the proper assessment, monitoring and treatment of pregnant women with heart disease

Encrucijada entre la cardiopatía isquémica, la miocardiopatía hipertrófica y el corazón de atleta / Crossroads between ischemic heart disease, hypertrophic cardiomyopathy and athlete’s heart

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A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.

Marfan syndrome is an autosomal dominant disorder of the connective tissue, characterized by early development of thoracic aortic aneurysms and/or dissections, accompanied by ocular and/or skeletal involvement, and is caused by mutations in the fibrillin 1 (FBN1) gene. We report on a patient with ectopia lentis and a nonprogressive aortic root dilatation who presented with a novel mutation affecting a conserved cysteine residue present in a calcium-binding epidermal growth factor-like domain of FBN1 (ENSP00000325527, p.Cys538Phe; Chr15:48,805,751 G>T), as revealed by complete sequencing of the FBN1 gene exons and flanking sequences. Identification of the mutation led to genetic screening of apparently asymptomatic family members, allowing the detection of characteristic ocular phenotypes in the absence of typical cardiac Marfan features. This finding stresses the importance of genetic screening of asymptomatic relatives for FBN1 gene mutation carriers.

Clinical features in adult patient with Wolf-Hirschhorn syndrome.

The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and ophthalmologic malformations. Pathogenesis of WHS is multigenic and many factors are involved in prediction of prognosis such as extent of deletion, the occurrence of severe chromosome anomalies, the severe of seizures, the existence of serious internal, mainly cardiac, abnormalities and the degree of mental retardation. The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and children. Avoid long-term complications and provide rehabilitation programs and genetic counseling may be essential in these patients.

Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.

CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations of the chromodomain helicase DNA-binding protein gene CHD7 are reported to be a major cause of CHARGE syndrome. Herein, we report the case of a 27-year-old patient presenting with typical symptoms who bears a novel heterozygous insertion in exon 2 of the CHD7 gene (c.327dupC) resulting in an amino acid substitution and a frameshift (p.Val110Argfs*22) that leads to a 131-amino-acid truncated polypeptide, likely representing a null allele. Parental genetic screening confirmed the sporadic origin of the mutation.

Mucopolysaccharidosis Type II and the G374sp Mutation.

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many organs and tissues. This accumulation favors the appearance of neurologic involvement, severe airway obstruction, skeletal deformities, and cardiomyopathy, especially mitral and aortic valve regurgitation. In severe cases, obstructive airway disease and cardiac failure due to valvular dysfunction are the most common causes of death within the second decade of life. However, in mild cases, intelligence remains normal, stature is almost normal and death usually occurs due to cardiac failure in the fourth decade of life. We report the presentation, diagnosis, management, and outcome of 2 siblings with MPS II and the G374sp mutation at the nucleotide c.1246 of the gene encoding for the iduronate-2-sulfatase.

LEOPARD Syndrome: Clinical Features and Gene Mutations.

The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations.

Síndrome de Holt Oram e hipertensión arterial pulmonar / No disponible

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LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.

LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young people, is the most common cardiovascular manifestation in LS patients and the major determinant of mortality and morbidity. In approximately 85% of the patients with a definite diagnosis of LS, a missense mutation is found in the protein-tyrosine phosphatase non-receptor type 11 (PTPN11) gene located on chromosome 12q24.1. We report the case of an asymptomatic 17-year-old male with a missense mutation (c.836A>G) in exon 7 (Tyr279Cys) of the PTPN11 gene and a non-obstructive asymmetric anteroseptal hypertrophic cardiomyopathy.

Síndrome de Leopard y miocardiopatía hipertrófica / Leopard syndrome and hypertrophic cardiomyopathy

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Respuesta hipertensiva severa al ejercicio en paciente concoartación de aorta corregida y presión arterial basal normal / Severe hypertensive response to exercise in patients with corrected coarctation of the aorta and normal baseline blood pressure

La coartación de aorta es una de las cardiopatías congénitas intervenidas más frecuentes en la edad adulta. En estos pacientes hay una mayor incidencia de hipertensión arterial durante las actividades diarias y el ejercicio a pesar de una correcta cirugía reparadora y de la existencia de presión arterial normal en reposo. Realizar controles ergométricos y monitorizar ambulatoriamente la presión arterial durante 24 h resulta fundamental para reconocer la hipertensión arterial y evitar sus complicaciones a largo plazo (AU)

Coarctation of the aorta is one of the most frequent operated adult congenital heart diseases. These patients have a higher incidence of high blood pressure during daily activities and exercise in spite of correct surgical repair and normal at rest blood pressure. Performing the treadmill test and monitoring 24-hour ambulatory blood pressure are fundamental to identify high blood pressure and avoid its long-term complications (AU)

Association of Taq 1B CETP polymorphism with insulin and HOMA levels in the population of the Canary Islands.

BACKGROUND AND AIMS: Cholesteryl ester transfer protein (CETP) is an enzyme with a key role in lipoprotein metabolism. A common genetic polymorphism, the Taq 1B, influences CETP activity and HDL-cholesterol levels, with individual homozygotes for the B1 allele exhibiting higher enzyme activity and lower HDL-cholesterol levels than carriers of at least one B2 allele. Our aim was to analyze the influence of Taq 1B CETP polymorphism on cardiovascular risk factors in a representative sample of adult subjects from Canary population. METHODS AND RESULT: A total of 518 adult subjects from the Canary Islands, enrolled in a nutritional survey (the ENCA study), were included. The Taq 1B polymorphism was analyzed by PCR-RFLP. Compared with individuals with at least one B2 allele, and after adjusting for age, sex, BMI, waist perimeter, smoking and alcohol intake, carriers of the B1B1 genotype showed lower HDL-cholesterol levels (geometric mean (95% CI): 46.6 (44.5-48.8) vs. 50.6 (49.1-52.9)mg/dl; P=0.003); and higher insulin (geometric mean (95% CI): 11.1 (10.5-11.9) vs. 10.0 (9.5-10.5µU/ml; P=0.008) and HOMA levels (geometric mean (95% CI): 2.3 (2.1-2.5) vs. 2.1 (1.9-2.1); P=0.009). In addition, the B1B1 genotype was more frequent in individuals who had low levels of HDL-cholesterol according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) criteria (Odds Ratio (OR): 1.563; 95% CI: 1.04-2.34; P=0.030), and in those included in the upper quartile of insulinemia (OR: 1.90; 95% CI: 1.20-3.03; P=0.007) and HOMA (OR: 1.61; 95% CI: 1.02-2.57; P=0.043). CONCLUSION: The observed influence of Taq 1B polymorphism on insulin levels and HOMA highlights the possible role of CETP in the regulation of glucose homeostasis.