Miocardiopatías y trasplante cardíaco / Cardiomyopathies and heart transplants

Se ha publicado un nuevo documento de consenso de la American Heart Association (AJHA) que define las miocardiopatías como el conjunto de enfermedades del miocardio asociadas a alteración mecánica y/o eléctrica del corazón que normalmente se acompaña de hipertrofía o dilatación secundaria a una serie de causas frecuentemente genéticas. Este nuevo documento hace un enfoque etiológico clasificándolas en primarias (con afectación fundamentalmente del corazón) y secundarias a enfermedades sistémicas. Las primarias se clasifican según su etiología en genéticas, adquiridas y mixtas. A efectos prácticos-didácticos se sigue hablando de miocardiopatías hipertrófica, dilatada o restrictiva. Se exponen su clínica, los estudios complementarios necesarios para su diagnóstico y los tratamientos médicos y quirúrgicos, con especial referencia a las indicaciones del trasplante cardíaco (AU)

A new consensus document of the AHA has been recetly published and it defines cardiomyopathies as a group of diseases of the myocardium that causes mechanic or electrical dysfuntion. They are usually associated with hypertrophy or dilatation and are more often secondary to different causes, frequently of genetic origin. This new document addfresses an etiological approach and classifies diseases as primary (involvement of the heart) and secondary to systemic diseases. Primary cardiomyopathies are further classified as genetic, acquired or mixed. Symptoms, complementary studies for diagnosis and medical and surgical treatments are explained, with special reference to the indications of heart transplantation (AU)

Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple / An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies

Las anomalías endocrinológicas son frecuentes en los pacientes con deleción22q11.2 e incluyen, por orden de frecuencia, hipocalcemia por hipoparatiroidismo primario, talla baja y disfunción tiroidea. Presentamos un caso de deleción 22q11.2 de diagnóstico tardío con afectación endocrina múltiple y diabetes mellitus tipo 1, y se revisan los conocimientos actuales de las manifestaciones endocrinológicas descritas en los pacientes con esta anomalía genética (AU)

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion (AU)

[An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies]. / Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple.

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion.

[Congenital brachial palsy: its epidemiology and sequelae. A retrospective study of our case mix]. / Parálisis braquial obstétrica: epidemiología y secuelas. Estudio retrospectivo de nuestra casuística.

AIM: To conduct a retrospective study of cases of congenital brachial palsy, focusing on its incidence, clinical manifestations and long-term course. PATIENTS AND METHODS: A systematized study of all the cases of congenital brachial palsy detected in the Hospital La Paz between January 1994 and December 2003 was carried out with the aim of recording data on the pregnancy, gestational age, type of delivery, presentation, sex and weight at birth, Apgar test and the arterial pH of the umbilical cord. It also sought to estimate the type of brachial palsy, the side that was affected, electromyographic findings, associated insults, treatment and progress. RESULTS: Congenital brachial palsy was diagnosed in 48 patients. All the children, except one, were born full term and in over half the cases (54.1%) weight at birth was above average. In 43 cases presentation was cephalic and in the other 5 it was footling. Twenty-nine cases (60.5%) were classified as mild, 12 were moderate (25%) and 7 were severe (14.5%). Electromyogram studies were carried out in 19 patients (39.5%) and the following insults were found: severe axonotmesis in the 7 severe patients, moderate axonotmesis in the 10 moderate patients, and neuroapraxia and mild axonotmesis in the 2 mild patients. CONCLUSIONS: The incidence of congenital brachial palsy in our hospital was 0.6 cases/1000 births/year. Proximal brachial palsy was the commonest disorder, although in most cases patients were only mildly affected and were free of sequelae when discharged. Functional limitations persisted, however, in 36.6% of the cases despite treatment being established at an early stage.

Parálisis braquial obstétrica: epidemiología y secuelas. Estudio retrospectivo de nuestra casuística / Congenital Brachial palsy: Its epidemiology and sequalae. A retrospective study of our case mix

Objetivo. Realizar un estudio retrospectivo de casos de parálisis braquial obstétrica, con su incidencia, manifestaciones clínicas y evolución a largo plazo. Pacientes y métodos. Estudio sistematizado de todos los casos de parálisis braquial obstétrica detectados en el Hospital La Paz entre enero de 1994 y diciembre de 2003, con registro de los datos relacionados con el embarazo, edad gestacional, tipo de parto, presentación, sexo y peso al nacimiento, test de Apgar, pH arterial de cordón umbilical, así como estimación del tipo de parálisis braquial, lado afectado, hallazgos electromiográficos, lesiones asociadas, tratamiento y evolución. Resultados. Se diagnosticó parálisis braquial obstétrica en 48 pacientes. Salvo un niño, todos los demás nacieron a término, y en más de la mitad de los casos (54,1%) el peso al nacer fue elevado. En 43 casos la presentación fue cefálica y en los otros cinco fue podálica. Se clasificaron como leves 29 casos (60,5%), 12 como moderados (25%) y siete como graves (14,5%). Se realizó electromiograma a 19 pacientes (39,5%); las lesiones encontradas fueron: axonotmesis grave en los siete pacientes graves, axonotmesis moderada en los 10 pacientes moderados, y neuroapraxia y axonotmesis leve para los dos pacientes leves. Conclusiones. La incidencia de parálisis braquial obstétrica en nuestro hospital fue de 0,6 casos/1.000 nacidos/año. La parálisis braquial proximal fue la afectación preferente, con predominio de los casos leves, a los que se les dio de alta sin secuelas. Sin embargo, persistieron limitaciones funcionales en el 36,6% de los casos a pesar de la instauración precoz del tratamiento (AU)

Aim. To conduct a retrospective study of cases of congenital brachial palsy, focusing on its incidence, clinical manifestations and long-term course. Patients and methods. A systematised study of all the cases of congenital brachial palsy detected in the Hospital La Paz between January 1994 and December 2003 was carried out with the aim of recording data on the pregnancy, gestational age, type of delivery, presentation, sex and weight at birth, Apgar test and the arterial pH of the umbilical cord. It also sought to estimate the type of brachial palsy, the side that was affected, electromyographic findings, associated insults, treatment and progress. Results. Congenital brachial palsy was diagnosed in 48 patients. All the children, except one, were born full term and in over half the cases (54.1%) weight at birth was above average. In 43 cases presentation was cephalic and in the other 5 it was footling. Twenty-nine cases (60.5%) were classified as mild, 12 were moderate (25%) and 7 were severe (14.5%). Electromyogram studies were carried out in 19 patients (39.5%) and the following insults were found: severe axonotmesis in the 7 severe patients, moderate axonotmesis in the 10 moderate patients, and neuroapraxia and mild axonotmesis in the 2 mild patients. Conclusions. The incidence of congenital brachial palsy in our hospital was 0.6 cases/1000 births/year. Proximal brachial palsy was the commonest disorder, although in most cases patients were only mildly affected and were free of sequelae when discharged. Functional limitations persisted, however, in 36.6% of the cases despite treatment being established at an early stage (AU)