¿Qué es la miocardiopatía hipertrófica?
Hypertrophic cardiomyopathy is most often caused by abnormal genes in the heart muscle. These genes cause the walls of the heart chamber (left ventricle) to become thicker than normal.
The thickened walls may become stiff and this can reduce the amount of blood taken in and pumped out to the body with each heartbeat.
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HCM obstructiva y no obstructiva
In obstructive HCM, the thickened part of the heart muscle, usually the wall (septum) between the two bottom chambers (ventricles), blocks or reduces the blood flow from the left ventricle to the aorta. Most people with HCM have this type.
In nonobstructive HCM, the heart muscle is thickened but doesn’t block blood flow out of the heart.
Signos, síntomas y riesgos
Some people with hypertrophic cardiomyopathy don’t have symptoms while others may only feel symptoms with exercise or exertion. Some people may not have signs or symptoms in the early stages of the disease but may develop them over time.
Knowing the signs and symptoms of HCM is important. It can help with getting an early diagnosis when treatment may be most effective.
Signs and symptoms of HCM include:
- Dolor torácico, especialmente al realizar esfuerzo físico
- Respiración entrecortada, especialmente al realizar esfuerzo físico
- Arritmias (ritmos cardíacos anormales)
- Sensación de mareo
- Desmayos (síncopes)
- Swelling in the ankles, feet, legs, abdomen
La HCM es una enfermedad crónica que puede empeorar con el tiempo. Esto puede generar un funcionamiento deficiente y empeorar la calidad de vida, provocar complicaciones a largo plazo y una mayor carga financiera y social.
People with HCM may need to make lifestyle changes, such as limiting their activity, to adjust for their disease.
As HCM progresses, it can cause other health problems. People with HCM are at higher risk for developing atrial fibrillation, which can lead to blood clots, stroke and other heart-related complications. HCM may also lead to heart failure. It can also lead to sudden cardiac arrest, but this is rare.
HCM has been regarded as the most common cause of sudden cardiac death in young people and competitive athletes in North America, although it is rare.
Getting a Diagnosis
Hypertrophic cardiomyopathy is most often inherited and is the most common form of genetic heart disease. It can happen at any age, but most receive a diagnosis in middle age.
Se estima que 1 de cada 500 personas padecen HCM, pero un gran porcentaje de los pacientes no se han diagnosticado. De los pacientes diagnosticados, dos tercios sufren de HCM obstructiva y un tercio de HCM no obstructiva.
A menudo, un cardiólogo o un cardiólogo pediátrico es quien diagnostica y trata la HCM. Es posible que también la deriven a un centro de miocardiopatía, donde el equipo del cuidado de la salud cuenta con entrenamiento especializado.
La HCM se diagnostica a partir de la historia clínica, los antecedentes familiares, una exploración física y los resultados de las pruebas diagnósticas.
Antecedentes familiares y médicos
Knowing your medical history and any signs and symptoms you may have is an important first step. Because HCM can be passed from parents to children, your physician will also want to know if anyone in your family has been diagnosed with HCM, heart failure or cardiac arrest. If someone has been diagnosed with HCM, first degree relatives which include siblings and parents, should also be checked.
Your doctor will listen to your heart and lungs with a stethoscope. If they hear a swishing or whooshing sound called a murmur, that could mean there is problem with blood flow through the heart which may suggest HCM.
Diagnosis is typically done by echocardiogram. It checks the thickness of the heart muscle and blood flow through the heart. In some cases, another type of echocardiogram, transesophageal echo (or TEE), may be performed. A TEE is done using a probe inserted in the throat while the patient is under sedation.
Other diagnostic tests may include:
- Electrocardiograma (ECG)
- Cardiac magnetic resonance imaging (MRI)
- Pruebas de esfuerzo
- Holter and event monitors to detect abnormal heart rhythms (arrhythmias)
- Pruebas genéticas
Procedimientos de diagnóstico
Confirming diagnosis or preparing for surgery may also involve one or more medical procedures during cardiac catheterization.
Tratamiento y manejo de la HCM
There is currently only one disease-specific medication to treat hypertrophic cardiomyopathy. Mavacamten, a medication that was approved by the FDA in April 2022, is used to treat the obstructive form of HCM in people who have symptoms.
For people with HCM who don’t have symptoms, a heart healthy lifestyle which includes staying active, eating a healthy diet, maintaining a normal weight, getting good quality sleep and not smoking is recommended. If you have other medical conditions like high blood pressure or diabetes, it’s important that these are managed to avoid heart complications which can develop if left unchecked.
For those with symptoms, the focus is on symptom management using medications and procedures.
Medications called beta-blockers, calcium channel blockers, antiarrhythmics and diuretics offer limited and varying relief of symptoms. They may help with function but can have side effects.
Se pueden utilizar diversos procedimientos quirúrgicos y no quirúrgicos para tratar la HCM:
- Septal myectomy – Septal myectomy, also called septal reduction therapy, is open-heart surgery. It’s considered for people with obstructive HCM who, despite taking HCM medications, continue to have severe symptoms. A surgeon removes part of the thickened septum that’s bulging into the left ventricle. This eliminates the obstruction and restores blood flow within the heart and out to the body.
- Alcohol septal ablation (nonsurgical procedure) – Also called nonsurgical septal reduction therapy, alcohol septal ablation is a procedure where ethanol (a type of alcohol) is injected through a tube into the small artery that supplies blood to the area of heart muscle thickened by HCM. The alcohol causes these cells to die. The thickened tissue shrinks to a more normal size. The risks and complications of heart surgery increase with age. For this reason, ablation may be preferred to septal myectomy in older patients with other medical conditions.
- Cardiac implantable electronic devices (CIEDs) – Several types of devices can be implanted in the body to help the heart work better, including:
- Desfibrilador cardioversor implantable (DCI): para ayudar a mantener un latido cardíaco normal, el DCI envía una descarga eléctrica al corazón cuando se detecta un latido cardíaco irregular. Esto reduce el riesgo de muerte súbita cardíaca.
- Pacemaker – This small device uses electrical pulses to prompt the heart to beat at a normal rate. This is used for people with a heart rate that is too slow.
- Dispositivo de terapia de resincronización cardíaca (TRC): este dispositivo coordina las contracciones entre los ventrículos izquierdo y derecho del corazón.
- Trasplante cardíaco: se puede considerar realizar un trasplante cardíaco a pacientes que padecen miocardiopatía hipertrófica (HCM, del inglés hypertrophic cardiomyopathy) o una enfermedad terminal. En este procedimiento, el corazón enfermo de una persona se reemplaza por el corazón sano de un donante.
The long-term outcome for people with HCM is very good and most patients with HCM have normal life expectancy without significant limitations or complications.
A small number of people with HCM, however, are at risk for complications including heart failure and sudden death. The risk of heart complications can vary between families and among different members of the same family, so it’s important that your health care team identifies people who are most at risk for these complications so preventative treatment can be provided.
Apoyo que lo eleva
Nuestra comunidad en línea de sobrevivientes y cuidadores está aquí para apoyarlo en su avance sin importar cuáles sean los obstáculos. Hemos estado allí y no lo dejaremos solo.