If heart disease runs in your family, talk to your doctor about HCM

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When Kristen Criss was diagnosed with hypertrophic cardiomyopathy (HCM), it felt like the pieces of her family's health puzzle had finally fallen into place. 

"My mom passed at 40-years-old, and my sister passed at age 33, so we always knew there was heart disease in our family," she says. "When we finally got the genetic component figured out, we realized it all matched up to HCM." 

Kristen is far from alone. HCM is the most commonly inherited heart disease and is estimated to affect between 1 in 200* to 1 in 500[†] people in the U.S.[1]  However, it is estimated that only about 100,000 individuals in the U.S. currently have received an HCM diagnosis, suggesting approximately 85% may remain undiagnosed.[‡§] The condition can lead to serious health complications, including an increased risk of heart failure, atrial fibrillation (irregular heartbeat), stroke, and, in rare cases, sudden cardiac death.[2]

Last year, the New York State Assembly adopted Assembly Resolution 118 officially recognizing Hypertrophic Cardiomyopathy Awareness Day to raise awareness and encourage those who may be at risk to speak with their doctors. This resolution sponsored by Assemblywoman Amy Paulin recognizes the critical importance of raising public and policymakers' awareness of HCM to support heart health in patients and families in New York.  

Understanding HCM

HCM is a chronic and progressive disease that can affect the function of the heart. It can affect an individual at any age, but people are typically diagnosed in their 40s or 50s.[3] While HCM is often inherited, not all cases are genetic.[4]      

In HCM, the left ventricular wall of the heart becomes thicker than it should be.[4] This excessive thickening can cause the heart to become stiffer.[4] As a result, the heart works harder and may have difficulty pumping oxygen-rich blood to the rest of the body.[4]

There are two types of HCM - non-obstructive HCM and obstructive HCM (oHCM) - both of which result in thicker heart walls.[4] The majority of HCM cases are obstructive in nature, meaning the heart's thicker wall may block or reduce blood flow out of the heart.[5]

Becoming Aware of HCM Symptoms

HCM is sometimes described as a "hidden disease" because people who have it may not always experience symptoms, or the symptoms may be similar to that of other health conditions.[6] Common symptoms include shortness of breath, unexplained tiredness, a rapid heartbeat, chest pain, dizziness, and fainting.[4]

Symptoms can vary from person to person. In some, they come and go, and in others, symptoms are persistent. They can make everyday activities like walking, climbing stairs, exercising, getting dressed, shopping, and household chores more difficult. 

"I continue to face challenges from HCM," adds Kristen. "I can't work out, play games or sports with my kids, or go on the long walks and hikes that I used to enjoy." 

Your doctor may check you for HCM if someone in your family has the condition, you have symptoms such as a heart murmur, or your heart is functioning in an abnormal way, based on an electrocardiogram or echocardiogram.

Your doctor may also request an MRI of the heart, a stress test, and monitor your heart for any abnormal heart rhythms. Genetic testing can also be used to support a diagnosis. It's important to know if there is a genetic component to your HCM. If there is, other family members can be checked for the condition.    

Taking Charge of Your Heart Health 

Being aware of your family history of heart disease and your own unexplained or worsening symptoms is an important first step. People with HCM may think they have asthma, anxiety, or another heart-related condition.[6] It is easy to think, "It's nothing," or "I'm just out of shape or stressed," but a delayed or missed diagnosis can put your health at risk. It's important to understand that symptoms may be signs of other conditions and only your doctor can determine if you have HCM or another condition.

Ask yourself the following questions before you visit your doctor: 

• Do I have any symptoms that might be indicative of HCM?
• Have I changed any of my activities because they are too difficult to physically do?
• Does anybody in my family have HCM?
• Am I related to anybody who has died suddenly or unexpectedly before the age of 50? 

"Now that I'm working with my doctor on a management plan that works for me, I'm hopeful about living a more normal life - playing with my kids and going on hikes," says Kristen. 

If you are experiencing any of these symptoms or if someone in your family was diagnosed with HCM, it's important to talk to your healthcare provider to learn more. Symptoms can be representative of many health conditions. Only a doctor can determine whether these symptoms indicate HCM or another condition. 

To learn more, visit CouldItBeHCM.com.  

Footnotes:

* The 2015 Semsarian publication identified that the prevalence of HCM gene carriers could be as high as 1:200.

[†] The 1995 CARDIA study, a multicenter, US-population-based echocardiography study of 4111 subjects (aged 23-35), identified the prevalence of HCM as 1:500 people in the general population.

[‡] Based on 2013 ICD-9 claims data analysis (N=169,089,614): An estimated 700,000 overall US prevalence of HCM (1. ~100,000 patients with diagnosed HCM [based on 2013 US Census population], 2. ~600,000 patients with undiagnosed HCM [based on analysis' assumption that 1 in 500 prevalence represents clinically unrecognized cases]).

[§] Estimated undiagnosed range calculated using prevalence of 1:500, estimated US population (332,330,571 in May 2021), and estimated diagnosed population (~100,000).

References:

[1] Wolf CM. Hypertrophic cardiomyopathy: genetics and clinical perspectives. Cardiovasc Diagn Ther. 2019 Oct;9(Suppl 2):S388-S415. doi: 10.21037/cdt.2019.02.01.

[2] Jacobs C. Hypertrophic cardiomyopathy in adults: an overview. J Am Assoc Nurse Pract. 2014;26(9):465-470.

[3] Elsouri KN, Camacho Ramos J, Stepanek K, Turan A, Kesselman MM, Demory ML. Adult Onset Hypertrophic Cardiomyopathy (HCM) Not Detected by Echocardiogram: A Case Presentation. Cureus. 2023 Sep 25;15(9):e45932. doi: 10.7759/cureus.45932. PMID: 37885492; PMCID: PMC10599216.

[4] University of Maryland Medical Center. Hypertrophic cardiomyopathy types, symptoms and causes. https://www.umms.org/ummc/health-services/heart-vascular/services/hypertrophic-cardiomyopathy/types-symptoms-causes.

[5] Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2020;142(25):e558-e631.

[6] Argulian E, Sherrid MV, Messerli FH. Misconceptions and facts about hypertrophic cardiomyopathy. Am J Med. 2016;129(2):148-152.

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